General Information of Disease (ID: DISUPZRG)

Disease Name Cardiomyopathy
Synonyms Cardiomyopathies; cardiomyopathy
Disease Class BC43: Cardiomyopathy
Definition
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Disease Hierarchy
DISXAP3G: Muscle tissue disorder
DISVO1I5: Cardiac disease
DISUPZRG: Cardiomyopathy
ICD Code
ICD-11
ICD-11: BC43
Expand ICD-11
'BC43
Expand ICD-10
'I42; 'I42.5; 'I42.8; 'I42.9; 'I43; 'I43.0; 'I43.1; 'I43.2; 'I43.8
Disease Identifiers
MONDO ID
MONDO_0004994
MESH ID
D009202
UMLS CUI
C0878544
MedGen ID
209232
HPO ID
HP:0001638
Orphanet ID
167848
SNOMED CT ID
57809008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Milrinone DM8TUPF Approved Small molecular drug [1]
------------------------------------------------------------------------------------
This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
ALN-TTRsc DMFUOM7 Phase 3 NA [2]
PB1046 DM8MJ3F Phase 2 Recombinant protein [3]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 166 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAM8 TTQWYMD Limited Biomarker [4]
ADRA1D TT34BHT Limited Biomarker [5]
ATP2A2 TTE6THL Limited Altered Expression [6]
AVPR1A TT4TFGN Limited Altered Expression [7]
BPI TTXCSDR Limited Genetic Variation [8]
C5 TTKANGO Limited Biomarker [9]
CSNK2A2 TT7GR5W Limited Altered Expression [10]
DYSF TTA7MXQ Limited Altered Expression [11]
FABP3 TT3TGLR Limited Biomarker [12]
FAS TT7LTUJ Limited Biomarker [13]
FHL1 TTI7ENL Limited Genetic Variation [14]
GADD45B TTMDW9L Limited Genetic Variation [15]
GATA4 TT1VDN2 Limited Genetic Variation [16]
GRK5 TTTCXO0 Limited Biomarker [17]
GSK3A TTQWAU1 Limited Biomarker [18]
HDAC5 TTUELN5 Limited Altered Expression [19]
HTT TTIWZ0O Limited Genetic Variation [20]
ITGB6 TTKQSXZ Limited Genetic Variation [8]
KCNJ2 TTH7UO3 Limited Altered Expression [21]
KCNN3 TT9JH25 Limited Altered Expression [21]
MGAT1 TTYJRN5 Limited Altered Expression [22]
OXTR TTSCIUP Limited Altered Expression [23]
PAH TTGSVH2 Limited Biomarker [24]
PDE2A TTJGW1Z Limited Biomarker [25]
PGC TT7K6AD Limited Biomarker [26]
PIKFYVE TTA4M1N Limited Biomarker [27]
PPID TTNAFOU Limited Biomarker [28]
PPIF TTRFQTB Limited Biomarker [28]
RBCK1 TTIKUVC Limited Genetic Variation [29]
RGS6 TTJ96M8 Limited Biomarker [30]
SCARB1 TTRE324 Limited Genetic Variation [31]
SDHD TTVH9W8 Limited CausalMutation [32]
SENP1 TTW9HY5 Limited Biomarker [33]
SGCA TTS9Q5V Limited Genetic Variation [34]
SGSH TTPJ2SH Limited Biomarker [35]
SLC18A3 TTV8KWS Limited Biomarker [36]
SLC5A1 TT2UE56 Limited Biomarker [37]
SLC8A1 TTCF82X Limited Biomarker [38]
SLCO1B1 TTFGXEB Limited Genetic Variation [39]
SOD2 TT9O4C5 Limited Autosomal recessive [40]
STK38 TT27XFN Limited Altered Expression [41]
TNFSF12 TTBTDM1 Limited Biomarker [42]
TRPC3 TTNVC34 Limited Biomarker [43]
TRPM4 TTJ2HKA Limited Biomarker [44]
UBE3A TTUZX6V Limited Biomarker [45]
VCP TTHNLSB Limited Altered Expression [46]
KCNQ1 TT846HF Disputed Biomarker [47]
MAPK3 TT1MG9E Disputed Biomarker [48]
TNNC1 TT8RDXP Disputed Biomarker [49]
VEGFB TTPJQHE Disputed Biomarker [50]
C1QBP TTWTD7F moderate Biomarker [51]
FOSL2 TT689IR moderate Biomarker [52]
IL1A TTPM6HI moderate Biomarker [53]
ITGB1 TTBVIQC moderate Biomarker [54]
LPL TTOF3WZ moderate Altered Expression [55]
MAPK1 TT4TQBX moderate Biomarker [56]
MYBPC3 TT9WOBN moderate Genetic Variation [57]
SGCB TTEDCQ0 moderate Biomarker [58]
STAT3 TTHJT3X moderate Biomarker [59]
TNNT2 TTWAS18 moderate Altered Expression [60]
ABCC9 TTEF5MJ Strong Genetic Variation [61]
ABL2 TT1A6HL Strong Genetic Variation [62]
ACE2 TTUI5H7 Strong Altered Expression [63]
ADAM10 TTVXEGU Strong Biomarker [64]
ADCY5 TTN64VU Strong Biomarker [65]
ADCYAP1 TTW4LYC Strong Therapeutic [66]
ADORA2A TTM2AOE Strong Therapeutic [67]
ADRB1 TTR6W5O Strong Biomarker [68]
ADRB2 TTG8ZWP Strong Biomarker [69]
ADRB3 TTMXGCW Strong Biomarker [70]
AGK TTJETQC Strong Genetic Variation [71]
AKT1 TTWTSCV Strong Biomarker [72]
APLN TT87D3J Strong Biomarker [73]
APP TTE4KHA Strong Biomarker [74]
ATF3 TTCE793 Strong Biomarker [75]
AVP TTJ8EWH Strong Biomarker [76]
AVPR2 TTK8R02 Strong Biomarker [76]
BDKRB2 TTGY8IW Strong Biomarker [77]
CALCR TTLWS2O Strong Biomarker [78]
CALR TTUZ7OA Strong Biomarker [78]
CASR TTBUYHA Strong Biomarker [79]
CBR1 TTVG0SN Strong Genetic Variation [80]
CCR5 TTJIH8Q Strong Biomarker [81]
CR1 TTEA8OW Strong Biomarker [82]
CS TTZA6B3 Strong Biomarker [83]
CYP2C9 TTR40YJ Strong Biomarker [84]
DMPK TTZQTY2 Strong Biomarker [85]
EDN1 TTJR60Z Strong Biomarker [86]
EPO TTQG4NR Strong Therapeutic [87]
FANCF TTNZKFJ Strong Genetic Variation [88]
FASLG TTO7014 Strong Altered Expression [13]
GOT1 TTU507L Strong Biomarker [89]
GRK2 TTAZ3MN Strong Therapeutic [90]
HAMP TTRV5YJ Strong Genetic Variation [91]
HEXIM1 TTFOKAH Strong Altered Expression [92]
HGF TT4V2JM Strong Therapeutic [93]
HSPD1 TT9HL5R Strong Therapeutic [94]
HSPE1 TTWYMFE Strong Therapeutic [94]
IDUA TT0IUKX Strong Biomarker [95]
IGF1R TTQFBMY Strong Biomarker [96]
IL1RL1 TT4GZA4 Strong Altered Expression [97]
IL4 TTLGTKB Strong Altered Expression [98]
JUP TTREN0G Strong Genetic Variation [99]
KLK1 TT5T3P6 Strong Biomarker [100]
LDHA TTW76JE Strong Biomarker [101]
MAP2K1 TTIDAPM Strong Biomarker [102]
MAP3K5 TTOQCD8 Strong Biomarker [103]
MAPK11 TT73U6C Strong Therapeutic [104]
MAPK14 TTQBR95 Strong Biomarker [105]
MAPT TTS87KH Strong Biomarker [74]
MBL2 TTMQDZ5 Strong Biomarker [106]
MIF TT6804T Strong Genetic Variation [107]
MLYCD TT9Z4YD Strong Genetic Variation [108]
MTTP TTUS1RD Strong Biomarker [109]
MYH2 TTBIL13 Strong Genetic Variation [110]
MYH7 TTNIMDP Strong Biomarker [111]
NNT TTKIH76 Strong Genetic Variation [112]
NOS1 TTZUFI5 Strong Genetic Variation [113]
NPPB TTY63XT Strong Biomarker [114]
NR3C2 TT26PHO Strong Genetic Variation [115]
OLR1 TTKSND3 Strong Biomarker [116]
PARP1 TTVDSZ0 Strong Biomarker [117]
PDE10A TTJW4LU Strong Biomarker [118]
PDE5A TTJ0IQB Strong Biomarker [119]
PDK2 TTJGCKM Strong Biomarker [120]
POMC TT21AKM Strong Biomarker [121]
PPARA TTJ584C Strong Posttranslational Modification [18]
PPARD TT2JWF6 Strong Biomarker [122]
PRKCE TT57MT2 Strong Biomarker [123]
PRKG1 TT7IZSA Strong Biomarker [124]
PSEN1 TTZ3S8C Strong Biomarker [74]
PSEN2 TTWN3F4 Strong Genetic Variation [125]
PTPN11 TT7WUAV Strong Genetic Variation [126]
RAD51 TTC0G1L Strong Therapeutic [127]
RAF1 TTAN5W2 Strong Biomarker [126]
RGS2 TTKB7T3 Strong Biomarker [128]
SCN5A TTZOVE0 Strong Genetic Variation [129]
SGCG TTSMT9W Strong Biomarker [130]
SLC25A4 TTU5A6Q Strong Genetic Variation [131]
SLC5A2 TTF8JAT Strong Biomarker [132]
SLC6A8 TTYUHB5 Strong Biomarker [78]
SOD2 TT9O4C5 Strong Biomarker [133]
SORD TTLSRBZ Strong Genetic Variation [134]
SPN TTOZAX0 Strong Biomarker [135]
TCL1A TTUKRDV Strong Altered Expression [136]
THPO TTCG5PE Strong Therapeutic [137]
TLR2 TTY7ZHS Strong Altered Expression [138]
TNF TTF8CQI Strong Biomarker [139]
TNNI3 TTNLDK6 Strong Biomarker [140]
TPCN2 TTHQJ2Y Strong Altered Expression [141]
TRPV2 TTBECWA Strong Biomarker [142]
TXN TTZJ5U9 Strong Biomarker [143]
UTRN TTNO1VA Strong Altered Expression [144]
UTS2 TTERU0T Strong Biomarker [145]
UTS2R TTW5UDX Strong Biomarker [145]
XDH TT7RJY8 Strong Therapeutic [146]
YWHAH TTADIOY Strong Therapeutic [103]
CYBB TT5T8MR Definitive Biomarker [147]
FGF21 TTQ916P Definitive Biomarker [148]
JMJD1C TTBISK4 Definitive Biomarker [149]
LAMP2 TTULDG7 Definitive Biomarker [150]
MASP2 TTR01E9 Definitive Biomarker [151]
PLN TTMCVJF Definitive Genetic Variation [152]
PPARGC1B TTKSQ3W Definitive Biomarker [153]
SIRT3 TTVZLIJ Definitive Altered Expression [154]
TLR3 TTD24Y0 Definitive Biomarker [155]
------------------------------------------------------------------------------------
⏷ Show the Full List of 166 DTT(s)
This Disease Is Related to 7 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC5 DTYVM24 Limited Altered Expression [156]
SLC22A5 DT3HUVD Limited Biomarker [157]
SLC25A3 DTCRIWV Limited Biomarker [158]
SLC28A3 DT4YL5R Limited Biomarker [159]
SLC2A6 DTS4MKQ Limited Autosomal dominant [40]
SLC14A2 DT8QC7K Strong Genetic Variation [160]
SLC25A5 DTL1TRY Strong Biomarker [161]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DTP(s)
This Disease Is Related to 10 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CHDH DEAHED0 Limited Biomarker [162]
CHST3 DEQIZP2 Limited Biomarker [163]
FAAH DEUM1EX Limited Biomarker [164]
ALAS2 DE437BY Strong Biomarker [165]
CBR3 DEIVKZ8 Strong Genetic Variation [80]
CRMP1 DE0EUXB Strong Altered Expression [144]
EGLN3 DEMQTKH Strong Altered Expression [166]
NDUFS2 DEKX5CD Strong Genetic Variation [167]
NDUFS7 DEIW03B Strong Genetic Variation [168]
PGM1 DEA3VM1 Strong Biomarker [169]
------------------------------------------------------------------------------------
⏷ Show the Full List of 10 DME(s)
This Disease Is Related to 293 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AARS1 OTW8D813 Limited Biomarker [170]
ABR OTZQK8JF Limited Genetic Variation [171]
ACTC1 OTJU04B1 Limited Genetic Variation [172]
ACTR2 OT3C8U5T Limited Biomarker [173]
ADAMTS2 OTTK22NO Limited Biomarker [174]
ADPRH OTLJ5511 Limited Biomarker [175]
AGL OTWBM7WY Limited Altered Expression [176]
ALMS1 OTW66JKS Limited Genetic Variation [177]
ALS2 OT8BAM04 Limited Biomarker [178]
AMOTL1 OT40G45S Limited Altered Expression [179]
ANGPTL8 OTQFINCD Limited Biomarker [180]
ARSD OTAHW9M8 Limited Biomarker [181]
ASTE1 OT4NF5HN Limited Genetic Variation [182]
BCAP31 OTKSACR4 Limited Biomarker [56]
BOLA3 OTDEDY0S Limited Genetic Variation [183]
CACNG8 OTP6227G Limited Altered Expression [21]
CACYBP OTJMZD2T Limited Biomarker [184]
CALR3 OTO4WCU9 Limited Genetic Variation [185]
CAVIN1 OTFO915U Limited Biomarker [186]
CAVIN4 OTB1DM2C Limited Genetic Variation [187]
CCN5 OTADU8JJ Limited Biomarker [188]
CCNT1 OTDYVGCP Limited Biomarker [189]
CD300C OT4BSR7D Limited Biomarker [190]
CELF4 OT4FS4F5 Limited Genetic Variation [191]
CHCHD10 OTCDHAM6 Limited Genetic Variation [192]
CMYA5 OTYV0RME Limited Genetic Variation [193]
COQ4 OTIU7FAZ Limited Genetic Variation [194]
CREM OTJIJ5AL Limited Biomarker [195]
CSRP3 OTECBJMV Limited Genetic Variation [196]
DIO2 OTGPNSLH Limited Genetic Variation [197]
DNAJC19 OTLA1V91 Limited Biomarker [198]
DPM3 OTSB4XO0 Limited Genetic Variation [199]
DSC2 OTODVH8K Limited Genetic Variation [200]
DSG2 OTJPB2TO Limited Genetic Variation [201]
ECHS1 OTS0593S Limited Genetic Variation [202]
EHD1 OTDMEKLV Limited Biomarker [203]
EMB OT67E3Q1 Limited Biomarker [204]
ERBIN OTNWTUA8 Limited Biomarker [205]
FBXO32 OTUE978R Limited Biomarker [206]
FGA OTMIHY80 Limited Biomarker [207]
FIS1 OT2HL10J Limited Biomarker [208]
GFER OTVK43OK Limited Biomarker [35]
GNB3 OTA6HYBA Limited Genetic Variation [209]
GOLGA6A OTHU9MRX Limited Posttranslational Modification [210]
GYS1 OTJZJRWK Limited Biomarker [211]
HADHB OT4Y1I62 Limited Genetic Variation [212]
HAND1 OTN4IPVV Limited Biomarker [213]
HAND2 OTCXYW4Y Limited Altered Expression [213]
HAS3 OTPM8IL8 Limited Genetic Variation [214]
HSF2 OTXNJIJ9 Limited Biomarker [215]
IMMT OTBDSLE7 Limited Biomarker [216]
LAMP3 OTN0XL3W Limited Biomarker [217]
LDLRAP1 OT6QTX7R Limited Biomarker [175]
LIMS2 OTZ7IIPM Limited Biomarker [218]
LORICRIN OTFRPVEO Limited Biomarker [219]
LRRC10 OT9V0ZBY Limited Genetic Variation [220]
LRRC39 OTBXCS1L Limited Biomarker [221]
LSAMP OTYXVQX2 Limited Biomarker [217]
MAP2K6 OTK13JKC Limited Altered Expression [222]
MEF2C OTZGF1Y5 Limited Altered Expression [223]
MEIS1 OTH9DKAD Limited Biomarker [173]
MICU1 OTS7N0LE Limited Altered Expression [224]
MLF1 OTC5BKHU Limited Altered Expression [225]
MOCOS OT0TL3Q5 Limited Biomarker [226]
MPEG1 OT7DAO0F Limited Biomarker [95]
MPLKIP OTV7BX5A Limited Genetic Variation [227]
MT1B OTUA4FFH Limited Biomarker [109]
MYL2 OT78PC0C Limited Genetic Variation [228]
NAGA OTNUEUZY Limited Genetic Variation [229]
ND4 OT4RQVAA Limited Genetic Variation [230]
NDUFS6 OT9IOONQ Limited Biomarker [231]
NEB OT7P9IR3 Limited Genetic Variation [232]
NLRP6 OTEREN4W Limited Biomarker [233]
NPPA OTMQNTNX Limited Altered Expression [234]
PANK2 OTFBW889 Limited Biomarker [35]
PCNT OTW4Z65J Limited Genetic Variation [235]
PDK4 OTCMHMBZ Limited Altered Expression [236]
POMT1 OTGQSHL5 Limited Genetic Variation [237]
PPP1R13L OTNCPLWE Limited Genetic Variation [238]
PRH1 OTQZ6HX0 Limited Genetic Variation [239]
RAB1A OTKPHRD0 Limited Altered Expression [240]
RBM20 OTOQZNKS Limited Biomarker [241]
RCBTB1 OTAYELI8 Limited Posttranslational Modification [210]
RNASE4 OTA5SZLC Limited Altered Expression [240]
RND3 OTXMXPIH Limited Biomarker [242]
RPS27 OTFXKY7P Limited Biomarker [95]
RYR2 OT0PF19E Limited Biomarker [243]
SART3 OTC1AM7S Limited Biomarker [208]
SCO1 OTC45UGB Limited Genetic Variation [244]
SERPINA5 OTTZXPGD Limited Biomarker [245]
SH2D1A OTLU49I5 Limited Biomarker [246]
SLC2A6 OTVUZCLG Limited Autosomal dominant [40]
SMCP OTXKY794 Limited Biomarker [226]
SNRK OTX0OPHO Limited Biomarker [247]
SOD2 OTIWXGZ9 Limited Autosomal recessive [40]
SPAG9 OT45AHMB Limited Biomarker [35]
SPATA18 OTOEHTHU Limited Biomarker [248]
ST3GAL4 OTNENJZQ Limited Biomarker [249]
STAP2 OTEB1VVI Limited Genetic Variation [250]
STX17 OT8TUN64 Limited Biomarker [217]
SYNE2 OTBUXGQ0 Limited Biomarker [251]
TAX1BP3 OTQ6IB4T Limited Biomarker [252]
TBC1D1 OTI9V7B0 Limited Biomarker [253]
TBX20 OTMPU2XQ Limited Genetic Variation [254]
THBS3 OTDKMUBD Limited Biomarker [255]
THEMIS OTXODBXJ Limited Biomarker [256]
TMBIM1 OTE47B57 Limited Biomarker [257]
TMEM70 OTLTKYXG Limited Genetic Variation [258]
TMPO OTL68EL4 Limited Biomarker [205]
TOR1AIP1 OTTG8MAK Limited Biomarker [259]
TPM1 OTD73X6R Limited Genetic Variation [260]
TRIB3 OTG5OS7X Limited Autosomal dominant [40]
TSPOAP1 OTAM8SGF Limited Biomarker [178]
FNDC5 OT5CSK9X Disputed Biomarker [261]
GFI1 OT9HB9H8 Disputed Biomarker [262]
GYG2 OTAJ7YEW Disputed Biomarker [263]
MDFIC OTSRYBWZ Disputed Genetic Variation [264]
PPA1 OTHZK1QB Disputed Biomarker [265]
RIT1 OTVNOGOH Disputed Genetic Variation [266]
ANKRD1 OTHJ7JV9 moderate Genetic Variation [267]
BSCL2 OT73V6Y4 moderate Biomarker [268]
COX15 OTUIYHIW moderate Genetic Variation [269]
DCAF8 OT3VFSLG moderate Genetic Variation [270]
GBE1 OTK2N05B moderate Genetic Variation [271]
JPH2 OTL9YH7V moderate Altered Expression [272]
KARS1 OT0EU4SV moderate Biomarker [273]
MMUT OTBBBV70 moderate Biomarker [274]
MYPN OTHTOFDU moderate Genetic Variation [275]
ND1 OTCLGIXV moderate Genetic Variation [276]
NEXN OTKB0B0H moderate Biomarker [277]
POLG OTDUCT04 moderate Genetic Variation [278]
PPARGC1A OTHCDQ22 moderate Biomarker [279]
TIMM50 OTWJNUQL moderate Genetic Variation [280]
TMEM43 OTM9RS9G moderate Genetic Variation [281]
TSSK1B OTRATM7R moderate Biomarker [52]
ACADVL OT50L4XB Strong Genetic Variation [282]
ACTA2 OTEDLG8E Strong Genetic Variation [172]
ACTN2 OT9FOLD7 Strong Genetic Variation [283]
AK6 OT84OHHP Strong Genetic Variation [284]
ALPK3 OTLUYSMO Strong Genetic Variation [285]
APOO OTAHHRGZ Strong Biomarker [286]
AQP2 OTQLBKK6 Strong Biomarker [76]
ARFGEF2 OTM3CQZT Strong Genetic Variation [287]
ATAD3A OTWF6HBP Strong Genetic Variation [288]
ATP5F1B OTLFZUQK Strong Therapeutic [289]
ATP6 OTPHOGLX Strong Genetic Variation [290]
ATRN OTTCLOPV Strong Biomarker [291]
BEST1 OTWHE1ZC Strong Biomarker [292]
BEX1 OTBQIF0H Strong Biomarker [293]
BIN1 OTK8O0X8 Strong Altered Expression [294]
BTNL2 OTTTEMZA Strong Genetic Variation [295]
CASQ2 OT09MNQ8 Strong Genetic Variation [296]
CAV3 OTWSFDB4 Strong Genetic Variation [297]
CELF1 OT6JQ5RS Strong Biomarker [298]
CEP85L OTSHJFOT Strong CausalMutation [203]
CFL2 OTE2W0DH Strong Biomarker [299]
COA5 OTK12EG7 Strong Genetic Variation [300]
COA6 OTT52V2I Strong Biomarker [301]
COL3A1 OTT1EMLM Strong Genetic Variation [302]
COX1 OTG3O9BN Strong Biomarker [83]
COX6B1 OTNKXYQI Strong Genetic Variation [303]
CPT1A OTI862QH Strong Biomarker [109]
CPT2 OTIN6G20 Strong Altered Expression [304]
CTNNA3 OT9Z0P1E Strong Biomarker [305]
DAPK2 OTWODUQG Strong Altered Expression [144]
DCAF6 OT3EYK1J Strong Biomarker [306]
DECR1 OTCDIR6X Strong Biomarker [307]
DENR OTXP9HOY Strong Altered Expression [144]
DES OTI09KBW Strong Genetic Variation [171]
DNAH8 OTGES2OU Strong Biomarker [308]
DSG1 OT11HC3A Strong Genetic Variation [309]
DUSP4 OT6WAO12 Strong Biomarker [310]
EMC7 OTUQYY8Z Strong Altered Expression [311]
EPG5 OT3P5HQD Strong Biomarker [312]
EVA1A OTCY3Q2M Strong Biomarker [313]
EYA4 OTINGR3Z Strong Genetic Variation [10]
FANCC OTTIDM3P Strong Genetic Variation [314]
FBXL4 OTZECCIQ Strong Genetic Variation [315]
FHL2 OT0OAYWT Strong Genetic Variation [316]
FKBP1B OT8CMPB2 Strong Biomarker [317]
FKRP OTMUZ7GH Strong Biomarker [318]
FKTN OTQ9GCXL Strong Biomarker [319]
FLNC OT3F8J6Y Strong Biomarker [320]
FNIP1 OTB1CC41 Strong Biomarker [321]
GABPA OT9YB2SA Strong Biomarker [322]
GNPTAB OT2Z03OB Strong Altered Expression [323]
GYG1 OT9PU6I2 Strong Altered Expression [263]
HADHA OTO557N2 Strong Biomarker [109]
HARS1 OTHOEOTS Strong Biomarker [324]
HFE OTDD93KB Strong Biomarker [325]
HGS OTCYYCAC Strong Biomarker [324]
HSPB6 OTFPLGZI Strong Biomarker [326]
HSPB7 OTLATAOV Strong Genetic Variation [327]
IDH2 OTTQA4PB Strong Genetic Variation [328]
IRX4 OT0TV6WK Strong Biomarker [329]
ISM2 OT4K7KON Strong Altered Expression [330]
ITGA7 OTTBTAYW Strong Genetic Variation [331]
KIF20A OTXOQHE0 Strong Biomarker [332]
KLHL24 OTWZSX5C Strong Altered Expression [333]
LDB3 OTGQL1AM Strong Genetic Variation [334]
LIAS OTOSW67J Strong Genetic Variation [335]
MARCHF8 OTH7PNN2 Strong Genetic Variation [336]
MATN1 OTBRTCTQ Strong Biomarker [337]
MEF2A OTV2SF6E Strong Altered Expression [85]
MGA OTTLB216 Strong Genetic Variation [258]
MIPEP OTB2IHCT Strong CausalMutation [338]
MLIP OTMT7AII Strong Genetic Variation [284]
MLXIP OT30UNI7 Strong Genetic Variation [336]
MTFMT OT1OIVJL Strong Genetic Variation [339]
MTO1 OT7HCZ1D Strong Biomarker [340]
MYBPC2 OTCXSB6A Strong Genetic Variation [341]
MYH14 OT1TZEJK Strong Biomarker [342]
MYH6 OT3YNCH1 Strong Genetic Variation [171]
MYH7B OTCB2IJB Strong Altered Expression [343]
MYL12B OTXMLQOT Strong Genetic Variation [344]
MYL3 OTKD3RSX Strong Genetic Variation [345]
MYL9 OT6B22JB Strong Genetic Variation [344]
MYLIP OTL0PFGV Strong Genetic Variation [336]
MYO18B OTGYY4NK Strong Genetic Variation [346]
MYO6 OTJQYRC7 Strong Altered Expression [347]
MYOCD OTSJNHTH Strong Biomarker [348]
MYOT OTCEW5XW Strong Genetic Variation [349]
NDUFA5 OTR848KZ Strong Biomarker [350]
NDUFV2 OTSZF7D6 Strong Biomarker [167]
NOX3 OT0FFJH8 Strong Biomarker [351]
PCBP1 OTHN0TD7 Strong Altered Expression [352]
PCMT1 OTGYVSGU Strong Genetic Variation [353]
PKP1 OT9HSQ8F Strong Altered Expression [354]
PKP2 OTJOVF68 Strong Genetic Variation [355]
PLEC OTU4XDEG Strong Genetic Variation [356]
PNPLA2 OTR3ERMR Strong Genetic Variation [357]
POLR2A OTHJQ1DZ Strong Biomarker [358]
PPA2 OTRKV8WW Strong Biomarker [265]
PPP1R1A OTGTAGCV Strong Biomarker [359]
PRKAA2 OTU1KZPV Strong Genetic Variation [360]
RAB3GAP1 OT4DQ8F2 Strong Genetic Variation [361]
RAB6A OTLS86J5 Strong Altered Expression [362]
RBFOX1 OTFPKEL7 Strong Biomarker [363]
RBFOX2 OTXY1WVH Strong Biomarker [364]
RBM24 OTQI1AR1 Strong Biomarker [365]
REEP1 OTEMVFX7 Strong Biomarker [366]
RHOJ OTWI65OA Strong Biomarker [120]
RIPK3 OTL1D484 Strong Biomarker [367]
RLN2 OTY3OG71 Strong Altered Expression [368]
RMND1 OT7I6RBT Strong Biomarker [369]
RPL32 OTKRQJT4 Strong Biomarker [358]
S100A1 OT1F2G4J Strong Altered Expression [370]
SARDH OTQ49Q27 Strong Genetic Variation [134]
SCO2 OTJQQDRS Strong Genetic Variation [244]
SDHB OTRE1M1T Strong Genetic Variation [134]
SDS OT5WTJ2M Strong Genetic Variation [134]
SENP2 OTPQJXIR Strong Biomarker [371]
SENP5 OTN9Q07Y Strong Biomarker [372]
SESN2 OT889IXY Strong Biomarker [373]
SHROOM3 OTQKC5X2 Strong Biomarker [374]
SLN OTERIU75 Strong Altered Expression [375]
SOS1 OTTCWXC3 Strong Genetic Variation [126]
SRI OT4R3EAC Strong Altered Expression [376]
SRSF5 OTC5WP98 Strong Biomarker [324]
SSPN OTYG2SL7 Strong Biomarker [377]
STRN OTLOZL5I Strong Biomarker [378]
SUMO2 OT1Y5IKN Strong Biomarker [379]
SUMO3 OTTUJQJ1 Strong Biomarker [380]
TAB2 OTPZK76F Strong Genetic Variation [381]
TCAP OTQQMJ94 Strong Biomarker [382]
TFAM OTXXV5V7 Strong Genetic Variation [383]
TGS1 OTM79LML Strong Genetic Variation [353]
THBS4 OTA1T9KK Strong Biomarker [384]
TIMP2 OT8S1RRP Strong Biomarker [385]
TJP1 OTBDCUPK Strong Genetic Variation [386]
TMEM126B OT8JJ5TP Strong Genetic Variation [387]
TRIM63 OTUSWA74 Strong Therapeutic [388]
TRMU OTJ1KXM7 Strong Genetic Variation [369]
TRNT1 OTD57ILL Strong Genetic Variation [389]
TSFM OTP6OKPJ Strong Genetic Variation [390]
TTN OT0LZ058 Strong Genetic Variation [391]
AARS2 OTOB0KSG Definitive Biomarker [170]
ACAD9 OT4HITJ6 Definitive Biomarker [392]
DNM1L OTXK1Q1G Definitive Altered Expression [144]
ELMO1 OTY2ORXK Definitive Altered Expression [307]
HJV OT4235J2 Definitive Biomarker [91]
KL OTD4VWU6 Definitive Altered Expression [393]
MTMR14 OTUUEY6Q Definitive Biomarker [394]
MYOF OTRFC3IJ Definitive Genetic Variation [395]
NKX2-5 OTS1SAWM Definitive Genetic Variation [396]
PRDM16 OT0BGA27 Definitive Biomarker [151]
PRKAG2 OTHTAM54 Definitive Genetic Variation [397]
PRPF6 OT3U0ABN Definitive Genetic Variation [131]
RERE OT3G4GBZ Definitive Biomarker [151]
SDHA OTOJ8QFF Definitive Genetic Variation [134]
SDHAF1 OTDG5VW7 Definitive Genetic Variation [134]
SYNE1 OTSBSLUH Definitive Genetic Variation [398]
TRIP4 OTA8OASA Definitive Genetic Variation [399]
------------------------------------------------------------------------------------
⏷ Show the Full List of 293 DOT(s)

References

1 Milrinone FDA Label
2 ClinicalTrials.gov (NCT02319005) ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC). U.S. National Institutes of Health.
3 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
4 ADAMs family and relatives in cardiovascular physiology and pathology.J Mol Cell Cardiol. 2016 Apr;93:186-99. doi: 10.1016/j.yjmcc.2015.10.031. Epub 2015 Oct 29.
5 An Alpha-1A Adrenergic Receptor Agonist Prevents Acute Doxorubicin Cardiomyopathy in Male Mice.PLoS One. 2017 Jan 12;12(1):e0168409. doi: 10.1371/journal.pone.0168409. eCollection 2017.
6 Ca2+-ATPases in non-failing and failing heart: evidence for a novel cardiac sarco/endoplasmic reticulum Ca2+-ATPase 2 isoform (SERCA2c).Biochem J. 2006 Apr 15;395(2):249-58. doi: 10.1042/BJ20051427.
7 -adrenergic receptor-mediated cardiac contractility is inhibited via vasopressin type 1A-receptor-dependent signaling.Circulation. 2014 Nov 11;130(20):1800-11. doi: 10.1161/CIRCULATIONAHA.114.010434. Epub 2014 Sep 9.
8 Discovery of Genomic Characteristics and Selection Signatures in Korean Indigenous Goats Through Comparison of 10 Goat Breeds.Front Genet. 2019 Aug 8;10:699. doi: 10.3389/fgene.2019.00699. eCollection 2019.
9 Role of complement C5a and histones in septic cardiomyopathy.Mol Immunol. 2018 Oct;102:32-41. doi: 10.1016/j.molimm.2018.06.006. Epub 2018 Jun 18.
10 Eya4 Induces Hypertrophy via Regulation of p27kip1.Circ Cardiovasc Genet. 2015 Dec;8(6):752-64. doi: 10.1161/CIRCGENETICS.115.001134. Epub 2015 Oct 23.
11 Dysfunction of dysferlin-deficient hearts.J Mol Med (Berl). 2007 Nov;85(11):1203-14. doi: 10.1007/s00109-007-0253-7. Epub 2007 Sep 9.
12 Administration of Fenofibrate Markedly Elevates Fabp3 in Rat Liver and Plasma and Confounds Its Use as a Preclinical Biomarker of Cardiac and Muscle Toxicity.Lipids. 2018 Oct;53(10):947-960. doi: 10.1002/lipd.12110.
13 Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathy.Cardiovasc Toxicol. 2007;7(4):255-63. doi: 10.1007/s12012-007-9004-9. Epub 2007 Oct 18.
14 Muscle death participates in myofibrillar abnormalities in FHL1 knockout mice.Biochem Biophys Res Commun. 2020 Feb 26;523(1):105-111. doi: 10.1016/j.bbrc.2019.12.026. Epub 2019 Dec 10.
15 GADD45B inhibits MKK7-induced cardiac hypertrophy and the polymorphisms of GADD45B is associated with inter-ventricular septum hypertrophy.Biochem Biophys Res Commun. 2008 Aug 8;372(4):623-8. doi: 10.1016/j.bbrc.2008.05.122. Epub 2008 Jun 2.
16 Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.Cell. 2016 Dec 15;167(7):1734-1749.e22. doi: 10.1016/j.cell.2016.11.033.
17 A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure.Nat Med. 2008 May;14(5):510-7. doi: 10.1038/nm1750. Epub 2008 Apr 20.
18 Glycogen Synthase Kinase-3 Promotes Fatty Acid Uptake and Lipotoxic Cardiomyopathy.Cell Metab. 2019 May 7;29(5):1119-1134.e12. doi: 10.1016/j.cmet.2019.01.005. Epub 2019 Feb 7.
19 Inflammation leads through PGE/EP(3) signaling to HDAC5/MEF2-dependent transcription in cardiac myocytes.EMBO Mol Med. 2018 Jul;10(7):e8536. doi: 10.15252/emmm.201708536.
20 Dysfunction of the CNS-heart axis in mouse models of Huntington's disease.PLoS Genet. 2014 Aug 7;10(8):e1004550. doi: 10.1371/journal.pgen.1004550. eCollection 2014 Aug.
21 Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction.PLoS One. 2015 Dec 28;10(12):e0145518. doi: 10.1371/journal.pone.0145518. eCollection 2015.
22 Reduced myocyte complex N-glycosylation causes dilated cardiomyopathy.FASEB J. 2019 Jan;33(1):1248-1261. doi: 10.1096/fj.201801057R. Epub 2018 Aug 23.
23 Cardiac-Specific Overexpression of Oxytocin Receptor Leads to Cardiomyopathy in Mice.J Card Fail. 2018 Jul;24(7):470-478. doi: 10.1016/j.cardfail.2018.05.004. Epub 2018 May 23.
24 Clinical Characteristics and Outcome ofMethamphetamine-Associated Pulmonary Arterial Hypertension andDilated Cardiomyopathy.JACC Heart Fail. 2018 Mar;6(3):209-218. doi: 10.1016/j.jchf.2017.10.006.
25 An abnormal gene expression of the beta-adrenergic system contributes to the pathogenesis of cardiomyopathy in cirrhotic rats.Hepatology. 2008 Dec;48(6):1913-23. doi: 10.1002/hep.22533.
26 Endurance exercise resistance to lipotoxic cardiomyopathy is associated with cardiac NAD(+)/dSIR2/PGC-1 pathway activation in old Drosophila.Biol Open. 2019 Oct 17;8(10):bio044719. doi: 10.1242/bio.044719.
27 Inhibition of PIKfyve prevents myocardial apoptosis and hypertrophy through activation of SIRT3 in obese mice.EMBO Mol Med. 2017 Jun;9(6):770-785. doi: 10.15252/emmm.201607096.
28 Impaired NF-B signalling underlies cyclophilin D-mediated mitochondrial permeability transition pore opening in doxorubicin cardiomyopathy.Cardiovasc Res. 2020 May 1;116(6):1161-1174. doi: 10.1093/cvr/cvz240.
29 New insights in the field of muscle glycogenoses.Curr Opin Neurol. 2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc.
30 G-protein inactivator RGS6 mediates myocardial cell apoptosis and cardiomyopathy caused by doxorubicin.Cancer Res. 2013 Mar 15;73(6):1662-7. doi: 10.1158/0008-5472.CAN-12-3453. Epub 2013 Jan 21.
31 Hepatocyte-Specific SR-BI Gene Transfer Corrects Cardiac Dysfunction in Scarb1-Deficient Mice and Improves Pressure Overload-Induced Cardiomyopathy.Arterioscler Thromb Vasc Biol. 2018 Sep;38(9):2028-2040. doi: 10.1161/ATVBAHA.118.310946.
32 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.
33 Induction of SENP1 in myocardium contributes to abnormities of mitochondria and cardiomyopathy.J Mol Cell Cardiol. 2015 Feb;79:115-22. doi: 10.1016/j.yjmcc.2014.11.014. Epub 2014 Nov 21.
34 Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster.J Biol Chem. 1993 Jun 5;268(16):11496-9.
35 Impact of Compound Hypertonic Saline Solution on Decompensated Heart Failure.Int Heart J. 2017 Aug 3;58(4):601-607. doi: 10.1536/ihj.16-313. Epub 2017 Jul 13.
36 Inflammation, oxidative stress, and glial cell activation characterize stellate ganglia from humans with electrical storm.JCI Insight. 2017 Sep 21;2(18):e94715. doi: 10.1172/jci.insight.94715. eCollection 2017 Sep 21.
37 SGLT1 inhibition boon or bane for diabetes-associated cardiomyopathy.Fundam Clin Pharmacol. 2020 Apr;34(2):173-188. doi: 10.1111/fcp.12516. Epub 2019 Nov 19.
38 EGFR tyrosine kinase inhibition decreases cardiac remodeling and SERCA2a/NCX1 depletion in streptozotocin induced cardiomyopathy in C57/BL6 mice.Life Sci. 2018 Oct 1;210:29-39. doi: 10.1016/j.lfs.2018.08.018. Epub 2018 Aug 11.
39 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.PLoS One. 2013 Nov 20;8(11):e79629. doi: 10.1371/journal.pone.0079629. eCollection 2013.
40 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
41 Stk38 Modulates Rbm24 Protein Stability to Regulate Sarcomere Assembly in Cardiomyocytes.Sci Rep. 2017 Mar 21;7:44870. doi: 10.1038/srep44870.
42 TWEAK/Fn14 mediates atrial-derived HL-1 myocytes hypertrophy via JAK2/STAT3 signalling pathway.J Cell Mol Med. 2018 Sep;22(9):4344-4353. doi: 10.1111/jcmm.13724. Epub 2018 Jul 4.
43 TRPC3-Nox2 complex mediates doxorubicin-induced myocardial atrophy.JCI Insight. 2017 Aug 3;2(15):e93358. doi: 10.1172/jci.insight.93358. eCollection 2017 Aug 3.
44 Functional characterization of TRPM4 variants identified in sudden unexpected natural death.Forensic Sci Int. 2018 Dec;293:37-46. doi: 10.1016/j.forsciint.2018.10.006. Epub 2018 Oct 24.
45 Integration of microarray profiles associated with cardiomyopathy and the potential role of Ube3a in apoptosis.Mol Med Rep. 2014 Feb;9(2):621-5. doi: 10.3892/mmr.2013.1848. Epub 2013 Dec 9.
46 Disruption of valosin-containing protein activity causes cardiomyopathy and reveals pleiotropic functions in cardiac homeostasis.J Biol Chem. 2019 May 31;294(22):8918-8929. doi: 10.1074/jbc.RA119.007585. Epub 2019 Apr 21.
47 Arrhythmogenic cardiomyopathy in a patient with a rare loss-of-function KCNQ1 mutation.J Am Heart Assoc. 2015 Jan 23;4(1):e001526. doi: 10.1161/JAHA.114.001526.
48 ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy.Dev Cell. 2019 Dec 2;51(5):602-616.e12. doi: 10.1016/j.devcel.2019.10.023.
49 Mechanism of Cardiac Troponin C Calcium Sensitivity Modulation by Small Molecules Illuminated by Umbrella Sampling Simulations.J Chem Inf Model. 2019 Jun 24;59(6):2964-2972. doi: 10.1021/acs.jcim.9b00256. Epub 2019 May 29.
50 Loss of VEGFB and its signaling in the diabetic heart is associated with increased cell death signaling.Am J Physiol Heart Circ Physiol. 2017 Jun 1;312(6):H1163-H1175. doi: 10.1152/ajpheart.00659.2016. Epub 2017 Mar 17.
51 Cardiomyocyte-specific loss of mitochondrial p32/C1qbp causes cardiomyopathy and activates stress responses. Cardiovasc Res. 2017 Aug 1;113(10):1173-1185. doi: 10.1093/cvr/cvx095.
52 Cardiomyopathy in murine models of systemic sclerosis.Arthritis Rheumatol. 2015 Feb;67(2):508-16. doi: 10.1002/art.38942.
53 Cytokines in HIV-associated cardiomyopathy.Int J Cardiol. 2007 Aug 21;120(2):150-7. doi: 10.1016/j.ijcard.2006.11.143. Epub 2007 Mar 2.
54 Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.Circ Res. 2008 May 9;102(9):1109-17. doi: 10.1161/CIRCRESAHA.108.173153. Epub 2008 Mar 13.
55 Ceramide is a cardiotoxin in lipotoxic cardiomyopathy.J Lipid Res. 2008 Oct;49(10):2101-12. doi: 10.1194/jlr.M800147-JLR200. Epub 2008 May 30.
56 Melatonin attenuates ER stress and mitochondrial damage in septic cardiomyopathy: A new mechanism involving BAP31 upregulation and MAPK-ERK pathway.J Cell Physiol. 2020 Mar;235(3):2847-2856. doi: 10.1002/jcp.29190. Epub 2019 Sep 18.
57 ALU transposition induces familial hypertrophic cardiomyopathy.Mol Genet Genomic Med. 2020 Jan;8(1):e951. doi: 10.1002/mgg3.951. Epub 2019 Sep 30.
58 Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E.Muscle Nerve. 2018 Feb 24;58(1):133-44. doi: 10.1002/mus.26112. Online ahead of print.
59 Phasic change and apoptosis regulation of JAK2/STAT3 pathway in a type 2 diabetic rat model.Am J Transl Res. 2019 Feb 15;11(2):911-930. eCollection 2019.
60 Combinatorial genetic replenishments in myocardial and outflow tract tissues restore heart function in tnnt2 mutant zebrafish.Biol Open. 2019 Dec 9;8(12):bio046474. doi: 10.1242/bio.046474.
61 Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.Nature. 2012 Nov 15;491(7424):399-405. doi: 10.1038/nature11547. Epub 2012 Oct 24.
62 Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.J Biol Chem. 1994 Jul 22;269(29):19060-6.
63 Angiotensin-converting enzyme 2 overexpression protects against doxorubicin-induced cardiomyopathy by multiple mechanisms in rats.Oncotarget. 2017 Apr 11;8(15):24548-24563. doi: 10.18632/oncotarget.15595.
64 Interrelation between Expression of ADAM 10 and MMP 9 and Synthesis of Peroxynitrite in Doxorubicin Induced Cardiomyopathy.Biomol Ther (Seoul). 2013 Sep 30;21(5):371-80. doi: 10.4062/biomolther.2013.034.
65 Type 5 adenylyl cyclase increases oxidative stress by transcriptional regulation of manganese superoxide dismutase via the SIRT1/FoxO3a pathway.Circulation. 2013 Apr 23;127(16):1692-701. doi: 10.1161/CIRCULATIONAHA.112.001212. Epub 2013 Mar 27.
66 Cardioprotective effect of endogenous pituitary adenylate cyclase-activating polypeptide on Doxorubicin-induced cardiomyopathy in mice.Circ J. 2010 Jun;74(6):1183-90. doi: 10.1253/circj.cj-09-1024. Epub 2010 Apr 6.
67 Effects of cardiac-restricted overexpression of the A(2A) adenosine receptor on adriamycin-induced cardiotoxicity.Am J Physiol Heart Circ Physiol. 2010 Jun;298(6):H1738-47. doi: 10.1152/ajpheart.00688.2009. Epub 2010 Apr 2.
68 Doberman pinschers present autoimmunity associated with functional autoantibodies: A model to study the autoimmune background of human dilated cardiomyopathy.PLoS One. 2019 Jul 5;14(7):e0214263. doi: 10.1371/journal.pone.0214263. eCollection 2019.
69 Disruption of type 5 adenylyl cyclase prevents -adrenergic receptor cardiomyopathy: a novel approach to -adrenergic receptor blockade.Am J Physiol Heart Circ Physiol. 2014 Nov 15;307(10):H1521-8. doi: 10.1152/ajpheart.00491.2014. Epub 2014 Sep 5.
70 MRI Assessment of Cardiomyopathy Induced by 1-Adrenoreceptor Autoantibodies and Protection Through 3-Adrenoreceptor Overexpression.Sci Rep. 2017 Mar 9;7:43951. doi: 10.1038/srep43951.
71 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet. 2012 Feb 10;90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26.
72 Opposing roles of Akt and STAT3 in the protection of the maternal heart from peripartum stress.Cardiovasc Res. 2014 Mar 15;101(4):587-96. doi: 10.1093/cvr/cvu010. Epub 2014 Jan 20.
73 Comparative evaluation of cannabinoid receptors, apelin and S100A6 protein in the heart of women of different age groups.BMC Cardiovasc Disord. 2018 Oct 4;18(1):190. doi: 10.1186/s12872-018-0923-0.
74 The preventive effects of edible folic acid on cardiomyocyte apoptosis and survival in early onset triple-transgenic Alzheimer's disease model mice.Environ Toxicol. 2018 Jan;33(1):83-92. doi: 10.1002/tox.22498. Epub 2017 Oct 25.
75 Indoxyl sulfate upregulates the cannabinoid type 1 receptor gene via an ATF3/c-Jun complex-mediated signaling pathway in the model of uremic cardiomyopathy.Int J Cardiol. 2018 Feb 1;252:128-135. doi: 10.1016/j.ijcard.2017.11.086. Epub 2017 Dec 2.
76 Upregulation of vasopressin V2 and aquaporin 2 in the inner medullary collecting duct of cardiomyopathic hamsters is attenuated by enalapril treatment.Metabolism. 2002 Aug;51(8):970-5. doi: 10.1053/meta.2002.34015.
77 Altered baroreflex control of heart rate in bradykinin B2-receptor knockout mice.Immunopharmacology. 1999 Dec;45(1-3):21-7. doi: 10.1016/s0162-3109(99)00053-3.
78 Occurrence, mortality and predictors of complicated cardiac perforation in patients with CRT-D: Based on the National Inpatient Sample registry.Int J Cardiol. 2019 Oct 15;293:109-114. doi: 10.1016/j.ijcard.2019.05.018. Epub 2019 May 13.
79 Interstitial fibrosis and microvascular disease of the heart in uremia: amelioration by a calcimimetic.Lab Invest. 2009 May;89(5):520-30. doi: 10.1038/labinvest.2009.7. Epub 2009 Feb 2.
80 Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group.J Clin Oncol. 2012 May 1;30(13):1415-21. doi: 10.1200/JCO.2011.34.8987. Epub 2011 Nov 28.
81 CCR5del32 genotype in human enteroviral cardiomyopathy leads to spontaneous virus clearance and improved outcome compared to wildtype CCR5.J Transl Med. 2018 Sep 4;16(1):249. doi: 10.1186/s12967-018-1610-8.
82 Human complement receptor type 1 (CR1) protein levels and genetic variants in chronic Chagas Disease.Sci Rep. 2018 Jan 11;8(1):526. doi: 10.1038/s41598-017-18937-z.
83 Time-dependent and tissue-specific accumulation of mtDNA and respiratory chain defects in chronic doxorubicin cardiomyopathy.Circulation. 2003 Nov 11;108(19):2423-9. doi: 10.1161/01.CIR.0000093196.59829.DF. Epub 2003 Oct 20.
84 Left ventricular non-compaction associated with a genetic variant of the CYP2C9 gene.Heart Lung Circ. 2006 Aug;15(4):269-71. doi: 10.1016/j.hlc.2006.02.007. Epub 2006 Apr 3.
85 The MEF2 transcriptional target DMPK induces loss of sarcomere structure and cardiomyopathy.Cardiovasc Res. 2018 Sep 1;114(11):1474-1486. doi: 10.1093/cvr/cvy091.
86 Conditional cardiac overexpression of endothelin-1 induces inflammation and dilated cardiomyopathy in mice.Circulation. 2004 Jan 20;109(2):255-61. doi: 10.1161/01.CIR.0000105701.98663.D4. Epub 2004 Jan 12.
87 Erythropoietin protects against doxorubicin-induced cardiomyopathy via a phosphatidylinositol 3-kinase-dependent pathway.J Pharmacol Exp Ther. 2008 Jan;324(1):160-9. doi: 10.1124/jpet.107.125773. Epub 2007 Oct 10.
88 Familial atrial fibrillation is a genetically heterogeneous disorder.J Am Coll Cardiol. 2003 Jun 18;41(12):2185-92. doi: 10.1016/s0735-1097(03)00465-0.
89 Endogenous sulfur dioxide protects against isoproterenol-induced myocardial injury and increases myocardial antioxidant capacity in rats.Lab Invest. 2011 Jan;91(1):12-23. doi: 10.1038/labinvest.2010.156. Epub 2010 Aug 23.
90 Cardiac-specific ablation of G-protein receptor kinase 2 redefines its roles in heart development and beta-adrenergic signaling.Circ Res. 2006 Oct 27;99(9):996-1003. doi: 10.1161/01.RES.0000247932.71270.2c. Epub 2006 Sep 28.
91 Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.Blood. 2018 Jul 5;132(1):101-110. doi: 10.1182/blood-2018-02-830562. Epub 2018 May 9.
92 Rapidly progressive course of Trypanosoma cruzi infection in mice heterozygous for hexamethylene bis-acetamide inducible 1 (Hexim1) gene.Microbes Infect. 2018 Jan;20(1):25-36. doi: 10.1016/j.micinf.2017.09.001. Epub 2017 Sep 22.
93 Treatment with an adenoviral vector encoding hepatocyte growth factor mitigates established cardiac dysfunction in doxorubicin-induced cardiomyopathy.Am J Physiol Heart Circ Physiol. 2008 Feb;294(2):H1048-57. doi: 10.1152/ajpheart.01102.2007. Epub 2007 Dec 14.
94 Hsp10 and Hsp60 modulate Bcl-2 family and mitochondria apoptosis signaling induced by doxorubicin in cardiac muscle cells.J Mol Cell Cardiol. 2003 Sep;35(9):1135-43. doi: 10.1016/s0022-2828(03)00229-3.
95 Open issues in Mucopolysaccharidosis type I-Hurler.Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9.
96 [The relationship of blood glucose and the expression of insulin-like growth factor-1 receptor mRNA in diabetic cardiomyopathy: a preliminary study with rats].Zhonghua Yi Xue Za Zhi. 2007 May 15;87(18):1249-51.
97 Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy.Pediatr Cardiol. 2017 Dec;38(8):1606-1612. doi: 10.1007/s00246-017-1703-9. Epub 2017 Aug 18.
98 Expression of programmed cell death-1 and its ligand B7 homolog 1 in peripheral blood lymphocytes from patients with peripartum cardiomyopathy.Clin Cardiol. 2017 May;40(5):307-313. doi: 10.1002/clc.22661. Epub 2016 Dec 27.
99 Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.Br J Dermatol. 2011 Oct;165(4):917-21. doi: 10.1111/j.1365-2133.2011.10455.x. Epub 2011 Aug 9.
100 Kallikrein gene delivery improves serum glucose and lipid profiles and cardiac function in streptozotocin-induced diabetic rats.Diabetes. 2005 May;54(5):1573-80. doi: 10.2337/diabetes.54.5.1573.
101 Protection against doxorubicin cardiomyopathy in rats: role of phosphodiesterase inhibitors type 4.J Pharm Pharmacol. 2004 Jun;56(6):757-68. doi: 10.1211/0022357023565.
102 Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.Bioorg Med Chem. 2017 Feb 1;25(3):1004-1013. doi: 10.1016/j.bmc.2016.12.014. Epub 2016 Dec 9.
103 14-3-3 protein regulates Ask1 signaling and protects against diabetic cardiomyopathy.Biochem Pharmacol. 2008 May 1;75(9):1797-806. doi: 10.1016/j.bcp.2008.02.003. Epub 2008 Feb 12.
104 Cocaine and apoptosis in myocardial cells.Anat Rec. 1999 Dec 15;257(6):208-16. doi: 10.1002/(SICI)1097-0185(19991215)257:6<208::AID-AR6>3.0.CO;2-0.
105 Inhibition of p38 alpha MAPK rescues cardiomyopathy induced by overexpressed beta 2-adrenergic receptor, but not beta 1-adrenergic receptor.J Clin Invest. 2007 May;117(5):1335-43. doi: 10.1172/JCI29576. Epub 2007 Apr 19.
106 Case Report: High Mannose-Binding Lectin Serum Determined by MBL2 Genotype and Risk for Clinical Progression to Chagasic Cardiomyopathy: A Case Report of Three Patients.Am J Trop Med Hyg. 2019 Jan;100(1):93-96. doi: 10.4269/ajtmh.17-0701.
107 Mannose binding lectin and macrophage migration inhibitory factor gene polymorphisms in Turkish children with cardiomyopathy: no association with MBL2 codon 54 A/B genotype, but an association between MIF -173 CC genotype.Int J Med Sci. 2012;9(6):506-12. doi: 10.7150/ijms.4787. Epub 2012 Aug 22.
108 Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4.
109 Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.BMC Pediatr. 2018 Mar 8;18(1):103. doi: 10.1186/s12887-018-1069-z.
110 Two Drosophila myosin transducer mutants with distinct cardiomyopathies have divergent ADP and actin affinities.J Biol Chem. 2011 Aug 12;286(32):28435-43. doi: 10.1074/jbc.M111.258228. Epub 2011 Jun 16.
111 Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories.J Mol Diagn. 2019 Jul;21(4):602-611. doi: 10.1016/j.jmoldx.2019.02.009. Epub 2019 Apr 25.
112 Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.Circ Cardiovasc Genet. 2015 Aug;8(4):544-52. doi: 10.1161/CIRCGENETICS.115.001026. Epub 2015 May 29.
113 Partial restoration of cardiac function with PDZ nNOS in aged mdx model of Duchenne cardiomyopathy.Hum Mol Genet. 2014 Jun 15;23(12):3189-99. doi: 10.1093/hmg/ddu029. Epub 2014 Jan 25.
114 Plasma concentrations of NT-pro-BNP and cardiac troponin-I in relation to doxorubicin-induced cardiomyopathy and cardiac function in childhood malignancy.Saudi Med J. 2005 Aug;26(8):1197-202.
115 Stabilization of Early Duchenne Cardiomyopathy With Aldosterone Inhibition: Results of the Multicenter AIDMD Trial.J Am Heart Assoc. 2019 Oct;8(19):e013501. doi: 10.1161/JAHA.119.013501. Epub 2019 Sep 24.
116 Deletion of LOX-1 Protects against Heart Failure Induced by Doxorubicin.PLoS One. 2016 May 19;11(5):e0154994. doi: 10.1371/journal.pone.0154994. eCollection 2016.
117 PARP-1 inhibition protects the diabetic heart through activation of SIRT1-PGC-1 axis.Exp Cell Res. 2018 Dec 15;373(1-2):112-118. doi: 10.1016/j.yexcr.2018.10.003. Epub 2018 Oct 23.
118 A Novel Role of Cyclic Nucleotide Phosphodiesterase 10A in Pathological Cardiac Remodeling and Dysfunction.Circulation. 2020 Jan 21;141(3):217-233. doi: 10.1161/CIRCULATIONAHA.119.042178. Epub 2019 Dec 5.
119 Carbon-11 and Fluorine-18 Radiolabeled Pyridopyrazinone Derivatives for Positron Emission Tomography (PET) Imaging of Phosphodiesterase-5 (PDE5).J Med Chem. 2017 Jan 12;60(1):486-496. doi: 10.1021/acs.jmedchem.6b01666. Epub 2016 Dec 23.
120 Comparative phenotypic assessment of cardiac pathology, physiology, and gene expression in C3H/HeJ, C57BL/6J, and B6C3F1/J mice.Toxicol Pathol. 2010 Oct;38(6):923-42. doi: 10.1177/0192623310382864.
121 Renal and pancreatic calcification during treatment of infantile spasms with ACTH.Lancet. 1984 Apr 21;1(8382):901. doi: 10.1016/s0140-6736(84)91355-2.
122 Peroxisome proliferator-activated receptor {delta} is an essential transcriptional regulator for mitochondrial protection and biogenesis in adult heart.Circ Res. 2010 Mar 19;106(5):911-9. doi: 10.1161/CIRCRESAHA.109.206185. Epub 2010 Jan 14.
123 Protein kinase Cepsilon overexpression alters myofilament properties and composition during the progression of heart failure.Circ Res. 2004 Aug 20;95(4):424-32. doi: 10.1161/01.RES.0000138299.85648.92. Epub 2004 Jul 8.
124 Empagliflozin prevents cardiomyopathy via sGC-cGMP-PKG pathway in type 2 diabetes mice.Clin Sci (Lond). 2019 Aug 2;133(15):1705-1720. doi: 10.1042/CS20190585. Print 2019 Aug 15.
125 Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. doi: 10.1086/509900. Epub 2006 Oct 24.
126 SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1.
127 Disparate impact of butyroyloxymethyl diethylphosphate (AN-7), a histone deacetylase inhibitor, and doxorubicin in mice bearing a mammary tumor.PLoS One. 2012;7(2):e31393. doi: 10.1371/journal.pone.0031393. Epub 2012 Feb 23.
128 Expression of ten RGS proteins in human myocardium: functional characterization of an upregulation of RGS4 in heart failure.Cardiovasc Res. 2002 Sep;55(4):778-86. doi: 10.1016/s0008-6363(02)00459-5.
129 A common variant alters SCN5A-miR-24 interaction and associates with heart failure mortality.J Clin Invest. 2018 Mar 1;128(3):1154-1163. doi: 10.1172/JCI95710. Epub 2018 Feb 19.
130 Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.Hum Mol Genet. 2000 Aug 12;9(13):2019-27. doi: 10.1093/hmg/9.13.2019.
131 Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.Cell Metab. 2019 Jan 8;29(1):78-90.e5. doi: 10.1016/j.cmet.2018.08.002. Epub 2018 Aug 30.
132 Effect of ipragliflozin, an SGLT2 inhibitor, on cardiac histopathological changes in a non-diabetic rat model of cardiomyopathy.Life Sci. 2019 Aug 1;230:19-27. doi: 10.1016/j.lfs.2019.05.051. Epub 2019 May 21.
133 Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.J Med Genet. 2020 Jan;57(1):23-30. doi: 10.1136/jmedgenet-2019-106330. Epub 2019 Sep 7.
134 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.
135 CD43 sialoglycoprotein modulates cardiac inflammation and murine susceptibility to Trypanosoma cruzi infection.Sci Rep. 2019 Jun 13;9(1):8628. doi: 10.1038/s41598-019-45138-7.
136 Genomic profiling reveals the potential role of TCL1A and MDR1 deficiency in chemotherapy-induced cardiotoxicity.Int J Biol Sci. 2013 Apr 22;9(4):350-60. doi: 10.7150/ijbs.6058. Print 2013.
137 Thrombopoietin protects against in vitro and in vivo cardiotoxicity induced by doxorubicin.Circulation. 2006 May 9;113(18):2211-20. doi: 10.1161/CIRCULATIONAHA.105.560250. Epub 2006 May 1.
138 Customized laboratory TLR4 and TLR2 detection method from peripheral human blood for early detection of doxorubicin-induced cardiotoxicity.Cancer Gene Ther. 2017 May;24(5):203-207. doi: 10.1038/cgt.2017.4. Epub 2017 Mar 3.
139 MKP1 overexpression reduces TNF--induced cardiac injury via suppressing mitochondrial fragmentation and inhibiting the JNK-MIEF1 pathways.J Cell Physiol. 2019 Sep;234(9):16148-16159. doi: 10.1002/jcp.28273. Epub 2019 Feb 10.
140 Enoxaparin attenuates doxorubicin induced cardiotoxicity in rats via interfering with oxidative stress, inflammation and apoptosis.BMC Pharmacol Toxicol. 2018 Jan 10;19(1):3. doi: 10.1186/s40360-017-0184-z.
141 Increased expression of fatty-acid and calcium metabolism genes in failing human heart.PLoS One. 2012;7(6):e37505. doi: 10.1371/journal.pone.0037505. Epub 2012 Jun 6.
142 Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy.Int J Mol Sci. 2019 Aug 7;20(16):3844. doi: 10.3390/ijms20163844.
143 Ischemic Cardiomyopathy Affects the Thioredoxin System in the Human Myocardium.J Card Fail. 2019 Mar;25(3):204-212. doi: 10.1016/j.cardfail.2019.01.017. Epub 2019 Feb 2.
144 Irisin ameliorates septic cardiomyopathy via inhibiting DRP1-related mitochondrial fission and normalizing the JNK-LATS2 signaling pathway.Cell Stress Chaperones. 2019 May;24(3):595-608. doi: 10.1007/s12192-019-00992-2. Epub 2019 Apr 16.
145 Elevated expression of urotensin II and its receptor in diabetic cardiomyopathy.J Diabetes Complications. 2008 Mar-Apr;22(2):137-43. doi: 10.1016/j.jdiacomp.2006.10.008.
146 Xanthine oxidase inhibition alleviates the cardiac complications of insulin resistance: effect on low grade inflammation and the angiotensin system.J Transl Med. 2015 Mar 6;13:82. doi: 10.1186/s12967-015-0445-9.
147 Signalling mechanisms underlying doxorubicin and Nox2 NADPH oxidase-induced cardiomyopathy: involvement of mitofusin-2.Br J Pharmacol. 2017 Nov;174(21):3677-3695. doi: 10.1111/bph.13773. Epub 2017 Apr 22.
148 Autophagic control of cardiac steatosis through FGF21 in obesity-associated cardiomyopathy.Int J Cardiol. 2018 Jun 1;260:163-170. doi: 10.1016/j.ijcard.2018.02.109. Epub 2018 Mar 5.
149 A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.Congenit Anom (Kyoto). 2018 Jan;58(1):36-38. doi: 10.1111/cga.12221. Epub 2017 May 17.
150 Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy.J Mol Cell Cardiol. 2019 Aug;133:199-208. doi: 10.1016/j.yjmcc.2019.06.013. Epub 2019 Jun 20.
151 Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.PLoS One. 2014 Jan 15;9(1):e85600. doi: 10.1371/journal.pone.0085600. eCollection 2014.
152 Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.Cardiovasc Pathol. 2019 May-Jun;40:2-6. doi: 10.1016/j.carpath.2018.12.006. Epub 2018 Dec 21.
153 Adiponectin ameliorates iron-overload cardiomyopathy through the PPAR-PGC-1-dependent signaling pathway.Mol Pharmacol. 2013 Aug;84(2):275-85. doi: 10.1124/mol.112.083964. Epub 2013 May 30.
154 Impaired SIRT3 activity mediates cardiac dysfunction in endotoxemia by calpain-dependent disruption of ATP synthesis.J Mol Cell Cardiol. 2019 Aug;133:138-147. doi: 10.1016/j.yjmcc.2019.06.008. Epub 2019 Jun 13.
155 Harmful Roles of TLR3 and TLR9 in Cardiac Dysfunction Developing during Polymicrobial Sepsis.Biomed Res Int. 2018 Sep 30;2018:4302726. doi: 10.1155/2018/4302726. eCollection 2018.
156 Expression and localization of the multidrug resistance protein 5 (MRP5/ABCC5), a cellular export pump for cyclic nucleotides, in human heart.Am J Pathol. 2003 Oct;163(4):1567-77. doi: 10.1016/S0002-9440(10)63513-4.
157 Dilated Cardiomyopathy With Short QT Interval Suggests Primary Carnitine Deficiency.Rev Esp Cardiol (Engl Ed). 2018 Dec;71(12):1074-1075. doi: 10.1016/j.rec.2017.09.004. Epub 2017 Dec 2.
158 Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy.Cell Death Differ. 2014 Aug;21(8):1209-17. doi: 10.1038/cdd.2014.36. Epub 2014 Mar 21.
159 Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3.Genet Test Mol Biomarkers. 2018 Nov;22(11):652-655. doi: 10.1089/gtmb.2018.0194. Epub 2018 Oct 23.
160 Polymorphism in the 3' UTR of the IL12B gene is associated with Chagas' disease cardiomyopathy.Microbes Infect. 2007 Jul;9(9):1049-52. doi: 10.1016/j.micinf.2007.04.010. Epub 2007 May 3.
161 Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.Mol Biol Cell. 2015 Jun 1;26(11):1985-94. doi: 10.1091/mbc.E15-01-0030. Epub 2015 Apr 1.
162 Ventricular Assist Device Support as a Bridgeto Transplantation in PediatricPatients.J Am Coll Cardiol. 2018 Jul 24;72(4):402-415. doi: 10.1016/j.jacc.2018.04.072.
163 Deletion of protein kinase B2 preserves cardiac function by blocking interleukin-6-mediated injury and restores blood pressure during angiotensin II/high-salt-diet-induced hypertension.J Hypertens. 2018 Apr;36(4):834-846. doi: 10.1097/HJH.0000000000001613.
164 Fatty acid amide hydrolase is a key regulator of endocannabinoid-induced myocardial tissue injury.Free Radic Biol Med. 2011 Jan 1;50(1):179-95. doi: 10.1016/j.freeradbiomed.2010.11.002. Epub 2010 Nov 9.
165 Identification of differential gene expression related to epirubicin-induced cardiomyopathy in breast cancer patients.Hum Exp Toxicol. 2020 Apr;39(4):393-401. doi: 10.1177/0960327119893415. Epub 2019 Dec 11.
166 Targeted gene deletion of prolyl hydroxylase domain protein 3 triggers angiogenesis and preserves cardiac function by stabilizing hypoxia inducible factor 1 alpha following myocardial infarction.Curr Pharm Des. 2014;20(9):1305-10. doi: 10.2174/13816128113199990549.
167 Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316.
168 Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006.
169 The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.Forensic Sci Int Genet. 2019 Nov;43:102111. doi: 10.1016/j.fsigen.2019.06.012. Epub 2019 Jun 17.
170 Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.Hum Mol Genet. 2019 Jan 15;28(2):258-268. doi: 10.1093/hmg/ddy294.
171 Transcription Factor EB Activation Rescues Advanced B-Crystallin Mutation-Induced Cardiomyopathy by Normalizing Desmin Localization.J Am Heart Assoc. 2019 Feb 19;8(4):e010866. doi: 10.1161/JAHA.118.010866.
172 A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.PLoS One. 2015 Jun 10;10(6):e0127903. doi: 10.1371/journal.pone.0127903. eCollection 2015.
173 Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.Am J Med Genet A. 2017 Aug;173(8):2268-2274. doi: 10.1002/ajmg.a.38307. Epub 2017 Jun 9.
174 Systems Genetics Approach Identifies Gene Pathways and Adamts2 as Drivers of Isoproterenol-Induced Cardiac Hypertrophy and Cardiomyopathy in Mice.Cell Syst. 2017 Jan 25;4(1):121-128.e4. doi: 10.1016/j.cels.2016.10.016. Epub 2016 Nov 17.
175 Role of a TRIM72 ADP-ribosylation cycle in myocardial injury and membrane repair.JCI Insight. 2018 Nov 15;3(22):e97898. doi: 10.1172/jci.insight.97898.
176 Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.Endocrinol Metab Clin North Am. 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1.
177 Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.Eur J Med Genet. 2014 Sep;57(9):532-5. doi: 10.1016/j.ejmg.2014.06.004. Epub 2014 Jun 24.
178 Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun.
179 A Circular RNA Binds To and Activates AKT Phosphorylation and Nuclear Localization Reducing Apoptosis and Enhancing Cardiac Repair.Theranostics. 2017 Aug 29;7(16):3842-3855. doi: 10.7150/thno.19764. eCollection 2017.
180 ANGPTL8 reverses established adriamycin cardiomyopathy by stimulating adult cardiac progenitor cells.Oncotarget. 2016 Dec 6;7(49):80391-80403. doi: 10.18632/oncotarget.13061.
181 Clinical features in a girl with Duchenne muscular dystrophy with an X-autosome translocation; (X;4)(p21;q26).Brain Dev. 1986;8(6):619-23. doi: 10.1016/s0387-7604(86)80010-9.
182 Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.Cells. 2017 Nov 1;6(4):40. doi: 10.3390/cells6040040.
183 Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy.Am J Med Genet A. 2018 Dec;176(12):2787-2790. doi: 10.1002/ajmg.a.40490. Epub 2018 Oct 10.
184 Deletion of Siah-interacting protein gene in Drosophila causes cardiomyopathy.Mol Genet Genomics. 2012 Apr;287(4):351-60. doi: 10.1007/s00438-012-0684-x. Epub 2012 Mar 8.
185 Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9.
186 Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.J Clin Endocrinol Metab. 2019 Mar 1;104(3):957-960. doi: 10.1210/jc.2018-01331.
187 MURC/CAVIN-4 facilitates store-operated calcium entry in neonatal cardiomyocytes.Biochim Biophys Acta Mol Cell Res. 2019 Aug;1866(8):1249-1259. doi: 10.1016/j.bbamcr.2019.03.017. Epub 2019 Apr 2.
188 CCN5 knockout mice exhibit lipotoxic cardiomyopathy with mild obesity and diabetes.PLoS One. 2018 Nov 28;13(11):e0207228. doi: 10.1371/journal.pone.0207228. eCollection 2018.
189 Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.EMBO J. 2004 Sep 1;23(17):3559-69. doi: 10.1038/sj.emboj.7600351. Epub 2004 Aug 5.
190 Therapeutic Effects of Liraglutide, Oxytocin and Granulocyte Colony-Stimulating Factor in Doxorubicin-Induced Cardiomyopathy Model: An Experimental Animal Study.Cardiovasc Toxicol. 2019 Dec;19(6):510-517. doi: 10.1007/s12012-019-09524-x.
191 CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study.J Clin Oncol. 2016 Mar 10;34(8):863-70. doi: 10.1200/JCO.2015.63.4550. Epub 2016 Jan 25.
192 ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response.Acta Neuropathol. 2019 Jul;138(1):103-121. doi: 10.1007/s00401-019-01989-y. Epub 2019 Mar 14.
193 Ryanodine receptors are part of the myospryn complex in cardiac muscle.Sci Rep. 2017 Jul 24;7(1):6312. doi: 10.1038/s41598-017-06395-6.
194 Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ(10) deficiency: An underdiagnosed cause of mitochondriopathy.Clin Chim Acta. 2019 Oct;497:88-94. doi: 10.1016/j.cca.2019.07.016. Epub 2019 Jul 17.
195 Molecular aspects of adrenergic signal transduction in cardiac failure.J Mol Med (Berl). 1998 Oct;76(11):747-55. doi: 10.1007/s001090050276.
196 Zebrafish cysteine and glycine-rich protein 3 is essential for mechanical stability in skeletal muscles.Biochem Biophys Res Commun. 2019 Apr 9;511(3):604-611. doi: 10.1016/j.bbrc.2019.02.115. Epub 2019 Feb 28.
197 Type 2 deiodinase Thr92Ala polymorphism impact on clinical course and myocardial remodeling in patients with Graves' disease.Cell Cycle. 2009 Aug 15;8(16):2565-9. doi: 10.4161/cc.8.16.9250.
198 DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.Cell Metab. 2014 Jul 1;20(1):158-71. doi: 10.1016/j.cmet.2014.04.016. Epub 2014 May 22.
199 A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.Neuromuscul Disord. 2017 Nov;27(11):1043-1046. doi: 10.1016/j.nmd.2017.07.006. Epub 2017 Jul 17.
200 Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.Mod Pathol. 2019 Sep;32(9):1281-1290. doi: 10.1038/s41379-019-0274-0. Epub 2019 Apr 25.
201 In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.J Mol Cell Cardiol. 2019 Apr;129:303-313. doi: 10.1016/j.yjmcc.2019.03.014. Epub 2019 Mar 15.
202 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.Metab Brain Dis. 2016 Oct;31(5):1189-92. doi: 10.1007/s11011-016-9842-x. Epub 2016 May 25.
203 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19.
204 Feasibility of Performing Radiofrequency Catheter Ablation and Endomyocardial Biopsy in the Same Setting.Am J Cardiol. 2018 Jun 1;121(11):1373-1379. doi: 10.1016/j.amjcard.2018.02.020. Epub 2018 Mar 5.
205 Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins.Nucleus. 2018;9(1):410-430. doi: 10.1080/19491034.2018.1469351.
206 A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5.
207 Imaging of isoproterenol-induced myocardial injury with (18)F labeled fluoroglucaric acid in a rat model.Nucl Med Biol. 2018 Apr;59:9-15. doi: 10.1016/j.nucmedbio.2017.12.006. Epub 2017 Dec 27.
208 Drp1/Fis1 interaction mediates mitochondrial dysfunction in septic cardiomyopathy.J Mol Cell Cardiol. 2019 May;130:160-169. doi: 10.1016/j.yjmcc.2019.04.006. Epub 2019 Apr 11.
209 GNB3 C825T Polymorphism and Myocardial Recovery in Peripartum Cardiomyopathy: Results of the Multicenter Investigations of Pregnancy-Associated Cardiomyopathy Study.Circ Heart Fail. 2016 Mar;9(3):e002683. doi: 10.1161/CIRCHEARTFAILURE.115.002683.
210 Epigenetic response to environmental stress: Assembly of BRG1-G9a/GLP-DNMT3 repressive chromatin complex on Myh6 promoter in pathologically stressed hearts.Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1772-81. doi: 10.1016/j.bbamcr.2016.03.002. Epub 2016 Mar 4.
211 Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.Mol Genet Metab. 2009 Dec;98(4):378-82. doi: 10.1016/j.ymgme.2009.07.012. Epub 2009 Jul 26.
212 Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.Eur J Pediatr. 2015 Dec;174(12):1689-92. doi: 10.1007/s00431-015-2574-9. Epub 2015 Jun 13.
213 Human eHAND, but not dHAND, is down-regulated in cardiomyopathies.J Mol Cell Cardiol. 2001 Sep;33(9):1607-14. doi: 10.1006/jmcc.2001.1434.
214 Hyaluronan synthase 3 variant and anthracycline-related cardiomyopathy: a report from the children's oncology group.J Clin Oncol. 2014 Mar 1;32(7):647-53. doi: 10.1200/JCO.2013.50.3557. Epub 2014 Jan 27.
215 p53-mediated miR-18 repression activates HSF2 for IGF-IIR-dependent myocyte hypertrophy in hypertension-induced heart failure.Cell Death Dis. 2017 Aug 10;8(8):e2990. doi: 10.1038/cddis.2017.320.
216 Deciphering the super relaxed state of human -cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers.Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):E8143-E8152. doi: 10.1073/pnas.1809540115. Epub 2018 Aug 13.
217 LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.Proc Natl Acad Sci U S A. 2019 Jan 8;116(2):556-565. doi: 10.1073/pnas.1808618116. Epub 2018 Dec 24.
218 LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.
219 Low lead one ratio predicts clinical outcomes in left bundle branch block.J Cardiovasc Electrophysiol. 2019 May;30(5):709-716. doi: 10.1111/jce.13875. Epub 2019 Feb 19.
220 Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population.Int J Legal Med. 2017 May;131(3):621-628. doi: 10.1007/s00414-016-1516-z. Epub 2016 Dec 28.
221 Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel component of the sarcomeric M-band and is involved in stretch sensing.Circ Res. 2010 Nov 12;107(10):1253-64. doi: 10.1161/CIRCRESAHA.110.222372. Epub 2010 Sep 16.
222 Active kinase proteome screening reveals novel signal complexity in cardiomyopathy.Mol Cell Proteomics. 2005 May;4(5):673-82. doi: 10.1074/mcp.M400200-MCP200. Epub 2005 Feb 18.
223 Myocyte enhancer factors 2A and 2C induce dilated cardiomyopathy in transgenic mice.J Biol Chem. 2006 Apr 7;281(14):9152-62. doi: 10.1074/jbc.M510217200. Epub 2006 Feb 9.
224 MICU1 Alleviates Diabetic Cardiomyopathy Through Mitochondrial Ca(2+)-Dependent Antioxidant Response.Diabetes. 2017 Jun;66(6):1586-1600. doi: 10.2337/db16-1237. Epub 2017 Mar 14.
225 Myeloid leukemia factor-1 is a novel modulator of neonatal rat cardiomyocyte proliferation.Biochim Biophys Acta Mol Cell Res. 2017 Apr;1864(4):634-644. doi: 10.1016/j.bbamcr.2017.01.004. Epub 2017 Jan 10.
226 Polymerase chain reaction amplification of three different Trypanosoma cruzi DNA sequences from human chagasic cardiac tissue.Am J Trop Med Hyg. 1998 Oct;59(4):563-70. doi: 10.4269/ajtmh.1998.59.563.
227 Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.BMC Med Genet. 2016 Feb 16;17:13. doi: 10.1186/s12881-016-0275-5.
228 The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray.Mol Genet Genomics. 2019 Oct;294(5):1241-1249. doi: 10.1007/s00438-019-01578-4. Epub 2019 May 18.
229 A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.J Inherit Metab Dis. 2007 Feb;30(1):108. doi: 10.1007/s10545-006-0470-1. Epub 2006 Dec 14.
230 A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.J Hum Genet. 2003;48(1):47-50. doi: 10.1007/s100380300005.
231 Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.Proc Natl Acad Sci U S A. 2012 Apr 17;109(16):6165-70. doi: 10.1073/pnas.1113987109. Epub 2012 Apr 2.
232 A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.Mol Biol Cell. 2009 Feb;20(3):834-45. doi: 10.1091/mbc.e08-07-0753. Epub 2008 Nov 12.
233 Arterial Properties as Determinants of Left Ventricular Mass and Fibrosis in Severe Aortic Stenosis: Findings From ACRIN PA 4008.J Am Heart Assoc. 2019 Jan 8;8(1):e03742. doi: 10.1161/JAHA.118.010271.
234 Role of Cytochrome p450 and Soluble Epoxide Hydrolase Enzymes and Their Associated Metabolites in the Pathogenesis of Diabetic Cardiomyopathy.J Cardiovasc Pharmacol. 2019 Sep;74(3):235-245. doi: 10.1097/FJC.0000000000000707.
235 Pericentrin expression in Down's syndrome.Neurol Sci. 2013 Nov;34(11):2023-5. doi: 10.1007/s10072-013-1529-z. Epub 2013 Aug 27.
236 Overexpression of pyruvate dehydrogenase kinase 4 in heart perturbs metabolism and exacerbates calcineurin-induced cardiomyopathy.Am J Physiol Heart Circ Physiol. 2008 Feb;294(2):H936-43. doi: 10.1152/ajpheart.00870.2007. Epub 2007 Dec 14.
237 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
238 iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):E973-81. doi: 10.1073/pnas.1408111112. Epub 2015 Feb 17.
239 Altered interactions between cardiac myosin binding protein-C and -cardiac actin variants associated with cardiomyopathies.Arch Biochem Biophys. 2014 May 15;550-551:28-32. doi: 10.1016/j.abb.2014.04.003. Epub 2014 Apr 13.
240 Rab1 in cell signaling, cancer and other diseases.Oncogene. 2016 Nov 3;35(44):5699-5704. doi: 10.1038/onc.2016.81. Epub 2016 Apr 4.
241 Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371.
242 The Rho GTPase RND3 regulates adipocyte lipolysis.Metabolism. 2019 Dec;101:153999. doi: 10.1016/j.metabol.2019.153999. Epub 2019 Oct 28.
243 A cryo-EM-based model of phosphorylation- and FKBP12.6-mediated allosterism of the cardiac ryanodine receptor.Sci Signal. 2017 May 23;10(480):eaai8842. doi: 10.1126/scisignal.aai8842.
244 Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model.Hum Mol Genet. 2015 Jul 1;24(13):3608-22. doi: 10.1093/hmg/ddv106. Epub 2015 Mar 19.
245 Health Status Benefits of SuccessfulChronic Total Occlusion Revascularization Across the SpectrumofLeft Ventricular Function: Insights From the OPEN-CTO Registry.JACC Cardiovasc Interv. 2018 Nov 26;11(22):2276-2283. doi: 10.1016/j.jcin.2018.07.058.
246 Interferon-gamma induces chronic active myocarditis and cardiomyopathy in transgenic mice.Am J Pathol. 2007 Aug;171(2):463-72. doi: 10.2353/ajpath.2007.060906. Epub 2007 Jun 7.
247 Snf1-related kinase improves cardiac mitochondrial efficiency and decreases mitochondrial uncoupling.Nat Commun. 2017 Jan 24;8:14095. doi: 10.1038/ncomms14095.
248 Gene expression changes in human iPSC-derived cardiomyocytes after X-ray irradiation.Int J Radiat Biol. 2018 Dec;94(12):1095-1103. doi: 10.1080/09553002.2018.1516908. Epub 2018 Sep 24.
249 FGF21 ameliorates diabetic cardiomyopathy by activating the AMPK-paraoxonase 1 signaling axis in mice.Clin Sci (Lond). 2017 Jul 7;131(15):1877-1893. doi: 10.1042/CS20170271. Print 2017 Aug 1.
250 Cardioprotective effects of dietary rapamycin on adult female C57BLKS/J-Lepr(db) mice.Ann N Y Acad Sci. 2018 Apr;1418(1):106-117. doi: 10.1111/nyas.13557. Epub 2018 Jan 29.
251 Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.Nucleus. 2018;9(1):503-515. doi: 10.1080/19491034.2018.1523664.
252 Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.
253 Ablating the Rab-GTPase activating protein TBC1D1 predisposes rats to high-fat diet-induced cardiomyopathy.J Physiol. 2020 Feb;598(4):683-697. doi: 10.1113/JP279042. Epub 2020 Feb 4.
254 Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.Am J Hum Genet. 2007 Aug;81(2):280-91. doi: 10.1086/519530. Epub 2007 Jun 15.
255 Thrombospondin-3 augments injury-induced cardiomyopathy by intracellular integrin inhibition and sarcolemmal instability.Nat Commun. 2019 Jan 8;10(1):76. doi: 10.1038/s41467-018-08026-8.
256 A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1-b1 using RLGS spot-mapping.Nat Genet. 1996 May;13(1):87-90. doi: 10.1038/ng0596-87.
257 Up regulated Tmbim1 activation promotes high fat diet (HFD)-induced cardiomyopathy by enhancement of inflammation and oxidative stress.Biochem Biophys Res Commun. 2018 Oct 12;504(4):797-804. doi: 10.1016/j.bbrc.2018.08.059. Epub 2018 Sep 11.
258 Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15.
259 Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.Orphanet J Rare Dis. 2014 Nov 26;9:174. doi: 10.1186/s13023-014-0174-9.
260 The effects of cardiomyopathy-associated mutations in the head-to-tail overlap junction of -tropomyosin on its properties and interaction with actin.Int J Biol Macromol. 2019 Mar 15;125:1266-1274. doi: 10.1016/j.ijbiomac.2018.09.105. Epub 2018 Sep 18.
261 FNDC5 alleviates oxidative stress and cardiomyocyte apoptosis in doxorubicin-induced cardiotoxicity via activating AKT.Cell Death Differ. 2020 Feb;27(2):540-555. doi: 10.1038/s41418-019-0372-z. Epub 2019 Jun 17.
262 GFI-1 Protects Against Lipopolysaccharide-Induced Inflammatory Responses and Apoptosis by Inhibition of the NF-B/TNF- Pathway in H9c2 Cells.Inflammation. 2020 Feb;43(1):74-84. doi: 10.1007/s10753-019-01095-x.
263 Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.J Clin Endocrinol Metab. 2020 Feb 1;105(2):557-66. doi: 10.1210/clinem/dgz075.
264 Postmortem diagnosis of left dominant arrhythmogenic cardiomyopathy: the importance of a multidisciplinary network for sudden death victims. "HIC mors gaudet succurere vitae".Cardiovasc Pathol. 2020 Jan-Feb;44:107157. doi: 10.1016/j.carpath.2019.107157. Epub 2019 Oct 10.
265 Sudden unexpected death in asymptomatic infants due to PPA2 variants.Mol Genet Genomic Med. 2020 Jan;8(1):e1008. doi: 10.1002/mgg3.1008. Epub 2019 Nov 9.
266 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13.
267 Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.Cardiovasc Res. 2020 Jul 1;116(8):1458-1472. doi: 10.1093/cvr/cvz291.
268 Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.JCI Insight. 2019 Jun 11;5(14):e129781. doi: 10.1172/jci.insight.129781.
269 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet. 2005 May;42(5):e28. doi: 10.1136/jmg.2004.029926.
270 Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology. 2014 Mar 11;82(10):873-8. doi: 10.1212/WNL.0000000000000206. Epub 2014 Feb 5.
271 Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.Acta Neuropathol. 2008 Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8. Epub 2008 Jul 26.
272 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. doi: 10.1016/j.yjmcc.2007.04.006. Epub 2007 Apr 18.
273 Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.Hum Mutat. 2018 Dec;39(12):2047-2059. doi: 10.1002/humu.23657. Epub 2018 Oct 3.
274 Cardiac calcium release channel (ryanodine receptor) in control and cardiomyopathic human hearts: mRNA and protein contents are differentially regulated.J Mol Cell Cardiol. 1997 Apr;29(4):1237-46. doi: 10.1006/jmcc.1996.0360.
275 Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.Skelet Muscle. 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9.
276 A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6.
277 Nexilin Is a New Component of Junctional Membrane Complexes Required for Cardiac T-Tubule Formation.Circulation. 2019 Jul 2;140(1):55-66. doi: 10.1161/CIRCULATIONAHA.119.039751. Epub 2019 Apr 15.
278 Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.Lab Invest. 2007 Apr;87(4):326-35. doi: 10.1038/labinvest.3700523. Epub 2006 Feb 19.
279 Heart specific PGC-1 deletion identifies metabolome of cardiac restricted metabolic heart failure.Cardiovasc Res. 2019 Jan 1;115(1):107-118. doi: 10.1093/cvr/cvy155.
280 Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17.
281 Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3.Circulation. 2019 Oct;140(14):1188-1204. doi: 10.1161/CIRCULATIONAHA.119.040366. Epub 2019 Sep 5.
282 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.World J Pediatr. 2014 May;10(2):119-25. doi: 10.1007/s12519-014-0480-2. Epub 2014 May 7.
283 ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.
284 Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis.J Clin Invest. 2015 Nov 2;125(11):4122-34. doi: 10.1172/JCI82423. Epub 2015 Oct 5.
285 Phenotypic spectrum of ALPK3-related cardiomyopathy.Am J Med Genet A. 2019 Jul;179(7):1235-1240. doi: 10.1002/ajmg.a.61176. Epub 2019 May 10.
286 Apolipoprotein O expression in mouse liver enhances hepatic lipid accumulation by impairing mitochondrial function.Biochem Biophys Res Commun. 2017 Sep 9;491(1):8-14. doi: 10.1016/j.bbrc.2017.06.128. Epub 2017 Jun 21.
287 The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.Brain Dev. 2016 Jan;38(1):124-7. doi: 10.1016/j.braindev.2015.06.004. Epub 2015 Jun 28.
288 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.
289 [Screening of differentially expressed genes in rats with cardiomyopathy after bone marrow mesenchymal stem cell transplantation].Zhonghua Er Ke Za Zhi. 2006 Oct;44(10):787-91.
290 Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.Nucleic Acids Res. 2000 Oct 15;28(20):E89. doi: 10.1093/nar/28.20.e89.
291 Barth syndrome.Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23.
292 Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy.Cochrane Database Syst Rev. 2018 Oct 16;10(10):CD009068. doi: 10.1002/14651858.CD009068.pub3.
293 BEX1 is an RNA-dependent mediator of cardiomyopathy.Nat Commun. 2017 Nov 30;8(1):1875. doi: 10.1038/s41467-017-02005-1.
294 Cardiac BIN1 (cBIN1) is a regulator of cardiac contractile function and an emerging biomarker of heart muscle health.Sci China Life Sci. 2017 Mar;60(3):257-263. doi: 10.1007/s11427-016-0249-x. Epub 2016 Nov 23.
295 Association of genetic polymorphisms on BTNL2 with susceptibility to and prognosis of dilated cardiomyopathy in a Chinese population.Int J Clin Exp Pathol. 2015 Sep 1;8(9):10488-99. eCollection 2015.
296 Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.Clin Chim Acta. 2015 Jun 15;446:132-40. doi: 10.1016/j.cca.2015.04.014. Epub 2015 Apr 17.
297 Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.Neuropathology. 2016 Oct;36(5):485-489. doi: 10.1111/neup.12297. Epub 2016 Mar 7.
298 Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity in Heart Muscle.PLoS One. 2015 Apr 20;10(4):e0124462. doi: 10.1371/journal.pone.0124462. eCollection 2015.
299 Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy.J Am Coll Cardiol. 2015 Mar 31;65(12):1199-1214. doi: 10.1016/j.jacc.2015.01.031.
300 A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002. Epub 2011 Mar 31.
301 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.Cell Metab. 2015 Jun 2;21(6):823-33. doi: 10.1016/j.cmet.2015.04.012. Epub 2015 May 7.
302 A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.Cardiovasc Pathol. 2018 Jul-Aug;35:48-51. doi: 10.1016/j.carpath.2018.04.006. Epub 2018 Apr 24.
303 Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30.
304 Fibroblast growth factor-21 prevents diabetic cardiomyopathy via AMPK-mediated antioxidation and lipid-lowering effects in the heart.Cell Death Dis. 2018 Feb 14;9(2):227. doi: 10.1038/s41419-018-0307-5.
305 Unravelling the ultrastructural details of T-catenin-deficient cell-cell contacts between heart muscle cells by the use of FIB-SEM.J Microsc. 2020 Sep;279(3):189-196. doi: 10.1111/jmi.12855. Epub 2019 Dec 22.
306 Deficiency of nuclear receptor interaction protein leads to cardiomyopathy by disrupting sarcomere structure and mitochondrial respiration.J Mol Cell Cardiol. 2019 Dec;137:9-24. doi: 10.1016/j.yjmcc.2019.09.009. Epub 2019 Oct 17.
307 Engulfment and cell motility protein 1 potentiates diabetic cardiomyopathy via Rac-dependent and Rac-independent ROS production.JCI Insight. 2019 Jun 20;4(12):e127660. doi: 10.1172/jci.insight.127660. eCollection 2019 Jun 20.
308 Intramyocardial injection of SERCA2a-expressing lentivirus improves myocardial function in doxorubicin-induced heart failure.J Gene Med. 2016 Jul;18(7):124-33. doi: 10.1002/jgm.2885.
309 Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.Acta Derm Venereol. 2019 Jul 1;99(9):789-796. doi: 10.2340/00015555-3203.
310 Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival.Hum Mol Genet. 2018 Jul 1;27(13):2290-2305. doi: 10.1093/hmg/ddy134.
311 [Familial hypertrophic cardiomyopathy--a case report].Kardiol Pol. 2006 Nov;64(11):1287-91.
312 Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27.
313 Knockout of Eva1a leads to rapid development of heart failure by impairing autophagy.Cell Death Dis. 2017 Feb 2;8(2):e2586. doi: 10.1038/cddis.2017.17.
314 Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis.Lab Invest. 2001 Mar;81(3):385-96. doi: 10.1038/labinvest.3780246.
315 Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.Biochim Biophys Acta Mol Basis Dis. 2019 Nov 1;1865(11):165536. doi: 10.1016/j.bbadis.2019.165536. Epub 2019 Aug 20.
316 Generation of FHL2 homozygous knockout lines from human embryonic stem cells by CRISPR/Cas9-mediated ablation.Stem Cell Res. 2018 Mar;27:21-24. doi: 10.1016/j.scr.2017.12.015. Epub 2017 Dec 23.
317 Total triterpene acids, active ingredients from Fructus Corni, attenuate diabetic cardiomyopathy by normalizing ET pathway and expression of FKBP12.6 and SERCA2a in streptozotocin-rats.J Pharm Pharmacol. 2008 Dec;60(12):1687-94. doi: 10.1211/jpp/60.12.0016.
318 Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
319 Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure.Nat Commun. 2019 Dec 17;10(1):5754. doi: 10.1038/s41467-019-13623-2.
320 Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):326-336. doi: 10.1093/ehjci/jez188.
321 Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14.
322 Emerging evidence for crosstalk between Nrf2 and mitochondria in physiological homeostasis and in heart disease.Arch Pharm Res. 2020 Mar;43(3):286-296. doi: 10.1007/s12272-019-01188-z. Epub 2019 Nov 11.
323 Intercalated discs: cellular adhesion and signaling in heart health and diseases.Heart Fail Rev. 2019 Jan;24(1):115-132. doi: 10.1007/s10741-018-9743-7.
324 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary.Heart Rhythm. 2019 Nov;16(11):e373-e407. doi: 10.1016/j.hrthm.2019.09.019.
325 A Mouse Model of Cardiomyopathy Induced by Mutations in the Hemochromatosis HFE Gene.Can J Cardiol. 2017 Jul;33(7):904-910. doi: 10.1016/j.cjca.2017.03.006. Epub 2017 Mar 15.
326 Regulation of BECN1-mediated autophagy by HSPB6: Insights from a human HSPB6(S10F) mutant.Autophagy. 2018;14(1):80-97. doi: 10.1080/15548627.2017.1392420. Epub 2018 Jan 29.
327 Hspb7 is a cardioprotective chaperone facilitating sarcomeric proteostasis.Dev Biol. 2018 Mar 1;435(1):41-55. doi: 10.1016/j.ydbio.2018.01.005. Epub 2018 Jan 10.
328 D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.Genes Dev. 2014 Mar 1;28(5):479-90. doi: 10.1101/gad.231233.113.
329 Two novel mutations of the IRX4 gene in patients with congenital heart disease. Hum Genet. 2011 Nov;130(5):657-62. doi: 10.1007/s00439-011-0996-7. Epub 2011 May 5.
330 TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region.Gene. 2004 Jun 23;335:101-8. doi: 10.1016/j.gene.2004.03.008.
331 Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis. 2013 Jun 21;8:91. doi: 10.1186/1750-1172-8-91.
332 Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PLoS Genet. 2018 Jan 22;14(1):e1007138. doi: 10.1371/journal.pgen.1007138. eCollection 2018 Jan.
333 Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032.
334 A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.Neuropathology. 2017 Feb;37(1):45-51. doi: 10.1111/neup.12328. Epub 2016 Aug 21.
335 Lipoic acid biosynthesis defects. J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29.
336 Elucidation of transcriptome-wide microRNA binding sites in human cardiac tissues by Ago2 HITS-CLIP. Nucleic Acids Res. 2016 Sep 6;44(15):7120-31.
337 Assessment of late cardiomyopathy by magnetic resonance imaging in patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and idarubicin.Ann Hematol. 2017 Jul;96(7):1077-1084. doi: 10.1007/s00277-017-3004-z. Epub 2017 Apr 28.
338 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 Nov 1;8(1):106. doi: 10.1186/s13073-016-0360-6.
339 Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0. Epub 2017 Jan 5.
340 MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.PLoS One. 2014 Dec 15;9(12):e114918. doi: 10.1371/journal.pone.0114918. eCollection 2014.
341 Myosin binding protein C: implications for signal-transduction.J Muscle Res Cell Motil. 2012 May;33(1):31-42. doi: 10.1007/s10974-011-9281-6. Epub 2011 Dec 16.
342 Modulation of cardiac performance by motor protein gene transfer.Ann N Y Acad Sci. 2008 Mar;1123:96-104. doi: 10.1196/annals.1420.011.
343 Expression of Normally Repressed Myosin Heavy Chain 7b in the Mammalian Heart Induces Dilated Cardiomyopathy.J Am Heart Assoc. 2019 Aug 6;8(15):e013318. doi: 10.1161/JAHA.119.013318. Epub 2019 Jul 31.
344 In vitro rescue study of a malignant familial hypertrophic cardiomyopathy phenotype by pseudo-phosphorylation of myosin regulatory light chain.Arch Biochem Biophys. 2014 Jun 15;552-553:29-39. doi: 10.1016/j.abb.2013.12.011. Epub 2013 Dec 26.
345 A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.Cardiology. 2018;141(3):156-166. doi: 10.1159/000495027. Epub 2019 Jan 3.
346 A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B.Genetics. 2017 Feb;205(2):725-735. doi: 10.1534/genetics.116.192864. Epub 2016 Nov 22.
347 The MYO6 interactome: selective motor-cargo complexes for diverse cellular processes.FEBS Lett. 2019 Jul;593(13):1494-1507. doi: 10.1002/1873-3468.13486. Epub 2019 Jul 3.
348 Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545.
349 Mutations in myotilin cause myofibrillar myopathy.Neurology. 2004 Apr 27;62(8):1363-71. doi: 10.1212/01.wnl.0000123576.74801.75.
350 T cell epitope characterization in tandemly repetitive Trypanosoma cruzi B13 protein.Microbes Infect. 2005 Aug-Sep;7(11-12):1184-95. doi: 10.1016/j.micinf.2005.03.033.
351 Increase of NADPH oxidase 3 in heart failure of hereditary cardiomyopathy (1).Can J Physiol Pharmacol. 2019 Sep;97(9):902-908. doi: 10.1139/cjpp-2019-0055. Epub 2019 Mar 21.
352 RNA-binding proteins heterogeneous nuclear ribonucleoprotein A1, E1, and K are involved in post-transcriptional control of collagen I and III synthesis.Circ Res. 2004 Nov 26;95(11):1058-66. doi: 10.1161/01.RES.0000149166.33833.08. Epub 2004 Oct 28.
353 PIMT/NCOA6IP Deletion in the Mouse Heart Causes Delayed Cardiomyopathy Attributable to Perturbation in Energy Metabolism.Int J Mol Sci. 2018 May 16;19(5):1485. doi: 10.3390/ijms19051485.
354 Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.Br J Dermatol. 2009 Mar;160(3):692-7. doi: 10.1111/j.1365-2133.2008.08900.x. Epub 2008 Oct 21.
355 Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure.Europace. 2019 Jun 1;21(6):970-977. doi: 10.1093/europace/euz026.
356 Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.
357 The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations.Clin Genet. 2019 Dec;96(6):532-540. doi: 10.1111/cge.13642. Epub 2019 Oct 23.
358 Reference gene alternatives to Gapdh in rodent and human heart failure gene expression studies.BMC Mol Biol. 2010 Mar 23;11:22. doi: 10.1186/1471-2199-11-22.
359 Constitutively active phosphatase inhibitor-1 improves cardiac contractility in young mice but is deleterious after catecholaminergic stress and with aging.J Clin Invest. 2010 Feb;120(2):617-26. doi: 10.1172/JCI40545. Epub 2010 Jan 11.
360 Protective effects of sulforaphane on type 2 diabetes-induced cardiomyopathy via AMPK-mediated activation of lipid metabolic pathways and NRF2 function.Metabolism. 2020 Jan;102:154002. doi: 10.1016/j.metabol.2019.154002. Epub 2019 Nov 9.
361 Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.Folia Neuropathol. 2016;54(3):273-281. doi: 10.5114/fn.2016.62537.
362 Increased myocardial Rab GTPase expression: a consequence and cause of cardiomyopathy.Circ Res. 2001 Dec 7;89(12):1130-7. doi: 10.1161/hh2401.100427.
363 Characterization of Ca(V)1.2 exon 33 heterozygous knockout mice and negative correlation between Rbfox1 and Ca(V)1.2 exon 33 expressions in human heart failure.Channels (Austin). 2018 Jan 1;12(1):51-57. doi: 10.1080/19336950.2017.1381805.
364 Genes of the cGMP-PKG-Ca(2+) signaling pathway are alternatively spliced in cardiomyopathy: Role of RBFOX2.Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165620. doi: 10.1016/j.bbadis.2019.165620. Epub 2019 Nov 25.
365 RNA binding protein 24 deletion disrupts global alternative splicing and causes dilated cardiomyopathy.Protein Cell. 2019 Jun;10(6):405-416. doi: 10.1007/s13238-018-0578-8. Epub 2018 Sep 28.
366 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.
367 Therapeutic contribution of melatonin to the treatment of septic cardiomyopathy: A novel mechanism linking Ripk3-modified mitochondrial performance and endoplasmic reticulum function.Redox Biol. 2019 Sep;26:101287. doi: 10.1016/j.redox.2019.101287. Epub 2019 Jul 27.
368 Serelaxin treatment promotes adaptive hypertrophy but does not prevent heart failure in experimental peripartum cardiomyopathy.Cardiovasc Res. 2017 May 1;113(6):598-608. doi: 10.1093/cvr/cvw245.
369 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.
370 The S100 proteins for screening and prognostic grading of bladder cancer.Histol Histopathol. 2007 Sep;22(9):1025-32. doi: 10.14670/HH-22.1025.
371 Enhanced desumoylation in murine hearts by overexpressed SENP2 leads to congenital heart defects and cardiac dysfunction.J Mol Cell Cardiol. 2012 Mar;52(3):638-49. doi: 10.1016/j.yjmcc.2011.11.011. Epub 2011 Dec 1.
372 SENP5, a SUMO isopeptidase, induces apoptosis and cardiomyopathy.J Mol Cell Cardiol. 2015 Jan;78:154-64. doi: 10.1016/j.yjmcc.2014.08.003. Epub 2014 Aug 12.
373 SESN2 protects against doxorubicin-induced cardiomyopathy via rescuing mitophagy and improving mitochondrial function.J Mol Cell Cardiol. 2019 Aug;133:125-137. doi: 10.1016/j.yjmcc.2019.06.005. Epub 2019 Jun 12.
374 NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.Cardiovasc Res. 2014 Jul 15;103(2):228-37. doi: 10.1093/cvr/cvu134. Epub 2014 May 27.
375 Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice.Nat Commun. 2017 Oct 20;8(1):1068. doi: 10.1038/s41467-017-01146-7.
376 miR-1 mediated suppression of Sorcin regulates myocardial contractility through modulation of Ca2+ signaling.J Mol Cell Cardiol. 2012 May;52(5):1027-37. doi: 10.1016/j.yjmcc.2012.01.020. Epub 2012 Feb 4.
377 Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy.JCI Insight. 2019 Apr 30;5(11):e123855. doi: 10.1172/jci.insight.123855.
378 The SLMAP/Striatin complex: An emerging regulator of normal and abnormal cardiac excitation-contraction coupling.Eur J Pharmacol. 2019 Sep 5;858:172491. doi: 10.1016/j.ejphar.2019.172491. Epub 2019 Jun 21.
379 Sumoylation-independent activation of Calcineurin-NFAT-signaling via SUMO2 mediates cardiomyocyte hypertrophy.Sci Rep. 2016 Oct 21;6:35758. doi: 10.1038/srep35758.
380 Involvement of activated SUMO-2 conjugation in cardiomyopathy.Biochim Biophys Acta. 2015 Jul;1852(7):1388-99. doi: 10.1016/j.bbadis.2015.03.013. Epub 2015 Apr 6.
381 Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.Mol Genet Genomic Med. 2018 Apr 26;6(4):666-72. doi: 10.1002/mgg3.401. Online ahead of print.
382 Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol. 2004 Dec 7;44(11):2192-201. doi: 10.1016/j.jacc.2004.08.058.
383 Animal models for mitochondrial disease.Methods Mol Biol. 2002;197:3-54. doi: 10.1385/1-59259-284-8:003.
384 Defective Flux of Thrombospondin-4 through the Secretory Pathway Impairs Cardiomyocyte Membrane Stability and Causes Cardiomyopathy.Mol Cell Biol. 2018 Jun 28;38(14):e00114-18. doi: 10.1128/MCB.00114-18. Print 2018 Jul 15.
385 The roles of MMP-2/TIMP-2 in extracellular matrix remodelling in the hearts of STZ-induced diabetic rats.Acta Cardiol. 2007 Oct;62(5):485-91. doi: 10.2143/AC.62.5.2023412.
386 Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.Circ Genom Precis Med. 2018 Oct;11(10):e002123. doi: 10.1161/CIRCGEN.118.002123.
387 Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.
388 Muscle ring finger 1 mediates cardiac atrophy in vivo.Am J Physiol Heart Circ Physiol. 2009 Apr;296(4):H997-H1006. doi: 10.1152/ajpheart.00660.2008. Epub 2009 Jan 23.
389 Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.Int J Hematol. 2019 Apr;109(4):382-389. doi: 10.1007/s12185-019-02614-0. Epub 2019 Feb 13.
390 Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9.
391 Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker.Clin Chim Acta. 2019 Aug;495:123-128. doi: 10.1016/j.cca.2019.04.005. Epub 2019 Apr 5.
392 Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1181-1185. doi: 10.1515/jpem-2019-0205.
393 Klotho is upregulated in human cardiomyopathy independently of circulating Klotho levels.Sci Rep. 2018 May 30;8(1):8429. doi: 10.1038/s41598-018-26539-6.
394 Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.Gene. 2019 Apr 5;691:106-113. doi: 10.1016/j.gene.2018.11.099. Epub 2018 Dec 23.
395 Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.Front Genet. 2019 Jun 26;10:608. doi: 10.3389/fgene.2019.00608. eCollection 2019.
396 Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.Pediatr Cardiol. 2018 Apr;39(4):682-689. doi: 10.1007/s00246-018-1806-y. Epub 2018 Jan 13.
397 Human 2-AMPK Mutations.Methods Mol Biol. 2018;1732:581-619. doi: 10.1007/978-1-4939-7598-3_37.
398 Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrl.2019.01.004. Epub 2019 May 15.
399 ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27.