General Information of Disease (ID: DIS0XS2C)

Disease Name Age-related macular degeneration
Synonyms
age related macular degeneration; Senile macular retinal degeneration; age related maculopathy; ARMD; age-related macular degeneration; macular degeneration, age-related; age related Maculopathies; AMD; Senile macular degeneration
Disease Class 9B75: Macular degeneration
Definition Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
Disease Hierarchy
DISBIA4H: Degeneration of macula and posterior pole
DISGGL77: Inherited retinal dystrophy
DIS0XS2C: Age-related macular degeneration
ICD Code
ICD-11
ICD-11: 9B75.0
ICD-10
ICD-10: H35
Expand ICD-11
9B78.3
Expand ICD-10
H35
Expand ICD-9
140,141,142,143,144,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000,000.00
Disease Identifiers
MONDO ID
MONDO_0005150
MESH ID
D008268
UMLS CUI
C0242383
MedGen ID
116576
Orphanet ID
279
SNOMED CT ID
267718000

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
Eculizumab DMJGWZ7 Approved Monoclonal antibody [1]
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This Disease is Treated as An Indication in 15 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Emixustat DMH8VMP Phase 2/3 Small molecular drug [2]
ALK-001 DMDXZ6O Phase 2 NA [3]
AVA-101 DMASRP3 Phase 2 NA [4]
CAI orotate DMPH04W Phase 2 NA [5]
OT551 DMHKIOF Phase 2 Small interfering RNA [6]
P-144 DMH81SR Phase 2 NA [7]
PF-4523655 DM3YIKR Phase 2 siRNA drug [8]
Tesidolumab DMR4YEG Phase 2 Antibody [9]
X-82 DMW1NKO Phase 2 NA [10]
AG-013958 DMRET3H Phase 1/2 NA [11]
Anti-Factor D DM8ENKS Phase 1/2 Antibody [12]
NT-503 DMIKQZA Phase 1/2 NA [13]
AAV-sFLT gene therapy DMZ0E69 Phase 1 NA [14]
ACE-041 DMUBYFM Phase 1 Small molecular drug [15]
ASP7317 DMU7RVH Phase 1 Cell therapy [16]
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⏷ Show the Full List of 15 Drug(s)
This Disease is Treated as An Indication in 1 Patented Agent(s)
Drug Name Drug ID Highest Status Drug Type REF
PMID28621580-Compound-WO2015089220C70 DMX96FI Patented Small molecular drug [17]
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This Disease is Treated as An Indication in 1 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
RN6G DM5P1KQ Discontinued in Phase 2 NA [18]
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This Disease is Treated as An Indication in 13 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AMD-AAV7 DMPMKQV Investigative NA [7]
CD59 gene therapy DMDEXNR Investigative NA [7]
EPI-0031 DMTUSKA Investigative NA [7]
HTRA-1 mabs DML677O Investigative Monoclonal antibody [7]
L-19-PDT DMMC6LA Investigative NA [7]
MN-2011 DMP9QSE Investigative NA [7]
Modified vitamin A DMR5NWV Investigative NA [7]
NM-9308 DMC89HI Investigative Antibody [19]
NT-502 DM1UNKA Investigative NA [7]
OcuXan DMSX3WA Investigative NA [7]
RNA-144101 DMTQ0MD Investigative NA [7]
SHEF-1 DMMZTN3 Investigative NA [7]
SMT-D004 DMTTXIA Investigative NA [7]
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⏷ Show the Full List of 13 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 82 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C3 TTJGY7A Limited Biomarker [20]
CD59 TTBGTEJ Limited Biomarker [21]
CDH3 TTARMD9 Limited Genetic Variation [22]
FNDC1 TTQJCV8 Limited Biomarker [23]
LAMP2 TTULDG7 Limited Biomarker [24]
MME TT5TKPM Limited Biomarker [25]
PGF TT48I1Y Limited Altered Expression [26]
PROM1 TTXMZ81 Limited Genetic Variation [27]
RPGR TTHBDA9 Limited Biomarker [28]
RS1 TTT2CZY Limited Genetic Variation [29]
SQSTM1 TTOT2RY Limited Biomarker [30]
ALDH5A1 TTJUWVB moderate Biomarker [31]
C3AR1 TTI6B3F moderate Biomarker [32]
CACNA1C TTZIFHC moderate Biomarker [31]
CASP5 TTWR48J moderate Altered Expression [33]
CD46 TTMS7DF moderate Altered Expression [34]
CNGB3 TT0LJCG moderate Biomarker [35]
CNTF TTGEM5Q moderate Biomarker [36]
DDIT4 TTVEOY6 moderate Genetic Variation [37]
E2F2 TT5FYX0 moderate Biomarker [38]
FECH TTQ6VF4 moderate Altered Expression [39]
FPR1 TT5Y4EM moderate Genetic Variation [40]
GCLM TTNFESW moderate Biomarker [41]
HDAC11 TT8K17W moderate Biomarker [42]
LTB4R TTN53ZF moderate Biomarker [43]
METAP2 TTZL0OI moderate Biomarker [44]
MFGE8 TT1GLAJ moderate Genetic Variation [45]
PLTP TTZF6SN moderate Biomarker [46]
RHO TTH0KSX moderate Genetic Variation [47]
SLC11A2 TT2IS7P moderate Genetic Variation [48]
TEC TT1ZV49 moderate Biomarker [49]
TEP1 TTQGAVX moderate Altered Expression [50]
TSPAN7 TTMT6VE moderate Biomarker [51]
ABCG1 TTMWDGU Strong Biomarker [52]
ACAT1 TTK3C21 Strong Altered Expression [53]
AIF1 TT12MEP Strong Biomarker [54]
AMD1 TTBFROQ Strong Biomarker [55]
ANG TTURHFP Strong Altered Expression [56]
AOC3 TT7HC21 Strong Biomarker [57]
CA13 TTQPHSR Strong Biomarker [58]
CCR3 TTD3XFU Strong Biomarker [59]
CD55 TT5Z9WY Strong Genetic Variation [60]
CETP TTFQAYR Strong Genetic Variation [61]
CFD TT8D13I Strong Biomarker [62]
COL18A1 TT63DI9 Strong Altered Expression [56]
CRYAB TT7RUHB Strong Biomarker [63]
CRYBB1 TTDS503 Strong Biomarker [64]
CX3CL1 TT1OFBQ Strong Biomarker [65]
CXCR5 TTIW59R Strong Genetic Variation [66]
CYP21A2 TTP4GLG Strong Genetic Variation [67]
FABP5 TTNT2S6 Strong Biomarker [68]
FHL1 TTI7ENL Strong Genetic Variation [69]
FLT1 TT1VAUK Strong Genetic Variation [70]
GALNS TTT9YPO Strong Genetic Variation [71]
GAS6 TT69QD2 Strong Biomarker [72]
GAST TT4LRVO Strong Genetic Variation [71]
GRK5 TTTCXO0 Strong Genetic Variation [73]
HMOX2 TTWZRL4 Strong Genetic Variation [74]
IMPDH1 TT3GRLK Strong Genetic Variation [75]
KCNT2 TTLU5FO Strong Genetic Variation [76]
KIR2DS1 TTVWAGF Strong Biomarker [77]
KIR3DL2 TTQH3N0 Strong Biomarker [77]
LAMP1 TTC214J Strong Biomarker [78]
LRP6 TTSXOWE Strong Altered Expression [79]
MAN2B1 TTC12RO Strong Altered Expression [80]
MAP4K1 TTSHWUP Strong Biomarker [81]
MUTYH TTNB0ZK Strong Genetic Variation [82]
P2RX7 TT473XN Strong Biomarker [83]
PDE5A TTJ0IQB Strong Biomarker [84]
RENBP TTZCG0Q Strong Biomarker [85]
RORA TT1TYN7 Strong Genetic Variation [86]
SERPINF1 TTR59S1 Strong Altered Expression [87]
SRPK2 TTCZEJ9 Strong Genetic Variation [76]
SUCNR1 TT4FX9Y Strong Altered Expression [88]
TF TT8WXAV Strong Genetic Variation [89]
TGFBR1 TTP4520 Strong Genetic Variation [90]
TMEM97 TT9NXW4 Strong Genetic Variation [76]
TRPM1 TTTDAI9 Strong Genetic Variation [91]
TRPM3 TTO3TD8 Strong Genetic Variation [76]
TST TT51OTS Strong Genetic Variation [92]
APOB TTN1IE2 Definitive Altered Expression [53]
CD36 TTPJMCU Definitive Biomarker [93]
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⏷ Show the Full List of 82 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNG3 DTVFLQD Limited Genetic Variation [94]
ABCA7 DTDVSJA moderate Genetic Variation [95]
SLC16A8 DT39AOM moderate Biomarker [96]
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This Disease Is Related to 10 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NMNAT1 DE4D159 Limited Biomarker [97]
BCO1 DE6BOK3 moderate Genetic Variation [98]
CYP2R1 DEBIHM3 moderate Genetic Variation [99]
UGT2B17 DEAZDL8 moderate Biomarker [100]
ALDH1A2 DEKN1H4 Strong Genetic Variation [76]
CYP27A1 DEBS639 Strong Genetic Variation [101]
EPHX1 DELB4KP Strong Genetic Variation [102]
MGST1 DEAPJSO Strong Biomarker [103]
MT2A DEFKGT7 Strong Genetic Variation [104]
RDH5 DESI4OK Strong Genetic Variation [76]
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⏷ Show the Full List of 10 DME(s)
This Disease Is Related to 157 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARIH2 OTJYJQJ8 Limited Biomarker [105]
BHLHE22 OTZUQY5L Limited Altered Expression [106]
C2 OTHMF4YM Limited Genetic Variation [107]
CFHR2 OTACE5Y1 Limited Genetic Variation [108]
CP OTM8JE4Y Limited Biomarker [109]
ECM1 OT1K65VW Limited Genetic Variation [110]
EYS OT0NBPL5 Limited Genetic Variation [28]
HIC1 OTI9TWY4 Limited Biomarker [111]
HSPH1 OTVRR73T Limited Biomarker [112]
HYLS1 OT3SW5UC Limited Biomarker [113]
LOXL1 OTA0NEJU Limited Genetic Variation [114]
NOP56 OTT67SRZ Limited Posttranslational Modification [115]
PARP12 OTCQTYIO Limited Biomarker [111]
PLCG2 OTGVC9MY Limited Biomarker [116]
TDRD9 OTS4UBI8 Limited Biomarker [113]
ACAT2 OTZ092ZJ moderate Altered Expression [53]
ACO1 OT2VUR7L moderate Genetic Variation [117]
ADIPOR2 OT2HDTL8 moderate Biomarker [118]
ARNT OTMSIEZY moderate Genetic Variation [119]
BBX OTNQ3QUC moderate Genetic Variation [120]
C4A OTXMOYXU moderate Genetic Variation [121]
C9 OT7I5FDX moderate Genetic Variation [122]
CD5L OTPY4WQR moderate Biomarker [123]
CD93 OT6HZT6H moderate Altered Expression [124]
CDH7 OTQEXCKU moderate Genetic Variation [125]
CFHR1 OT72R16T moderate Genetic Variation [90]
CFHR3 OTYL8SDO moderate Biomarker [126]
CFHR4 OTWXGQMU moderate Genetic Variation [127]
CGRRF1 OTLMNRCL moderate Genetic Variation [128]
CHMP2B OTZA7RJB moderate Genetic Variation [48]
CRB1 OTXYUNG0 moderate Genetic Variation [129]
CTRB2 OTR9TOBV moderate Genetic Variation [67]
CXCL6 OTFTCQ4O moderate Biomarker [130]
DLGAP1 OTF2PUUI moderate Genetic Variation [128]
DMRT1 OT5PU9U1 moderate Genetic Variation [48]
EDF1 OTL07TLS moderate Altered Expression [131]
FBN2 OT3KYJQL moderate Genetic Variation [132]
FGD6 OTI0T62C moderate Genetic Variation [133]
FILIP1L OTPY8IMS moderate Genetic Variation [120]
HEPH OTZ2F15Z moderate Biomarker [134]
HGS OTCYYCAC moderate Genetic Variation [95]
IL27RA OTSQBAKI moderate Biomarker [135]
IMPG2 OTFPSJ0T moderate Biomarker [136]
ITM2B OTMXEPXB moderate Altered Expression [137]
KIDINS220 OTLBH2MA moderate Genetic Variation [138]
LAMA3 OTFME7HT moderate Biomarker [139]
LRRTM4 OTYJ4348 moderate Genetic Variation [140]
MASP1 OTWWCNZP moderate Biomarker [46]
MFSD8 OT455EIC moderate Genetic Variation [141]
MIA3 OTBVIZQD moderate Genetic Variation [119]
MMP20 OT16S5S3 moderate Biomarker [142]
MYO7A OTBZSPEL moderate Altered Expression [143]
MYOG OTPLJKFA moderate Biomarker [144]
NPHP1 OTZHCFFQ moderate Biomarker [145]
NR2E3 OTO3GBHQ moderate Biomarker [146]
P4HTM OTKELL7F moderate Biomarker [147]
PCDHGA12 OT3JJI7L moderate Biomarker [53]
PELI3 OTCBUSKJ moderate Genetic Variation [148]
PEX1 OTQJF0V7 moderate Genetic Variation [149]
PRPF31 OTSJ0Z1Y moderate Genetic Variation [150]
PRSS50 OTC5JAVO moderate Genetic Variation [151]
RDH8 OTSFFV9B moderate Biomarker [152]
RFC2 OTJ9N6BD moderate Biomarker [153]
SCD5 OTSSUQ3Z moderate Biomarker [154]
SEMA3E OTD4S36H moderate Biomarker [155]
SERPINB8 OT5T4Y5R moderate Genetic Variation [125]
SRL OT7IEBWZ moderate Biomarker [156]
SRM OT4N5MDP moderate Biomarker [157]
TLR10 OTQ1KVJO moderate Altered Expression [158]
TRA2B OTZYQW52 moderate Biomarker [159]
TSHZ1 OTYQ9ECW moderate Genetic Variation [160]
ABHD2 OTCRUOCS Strong Genetic Variation [91]
ACAD10 OTFAG3M0 Strong Genetic Variation [161]
AGBL4 OTOX2H61 Strong Genetic Variation [162]
ARHGAP21 OT6XY8Y9 Strong Genetic Variation [76]
ATP6V0D1 OT9GU2NW Strong Genetic Variation [67]
ATXN7 OTL3YF1H Strong Altered Expression [163]
BBS9 OT23V9YF Strong Genetic Variation [67]
C1QTNF5 OTLKU5I2 Strong Genetic Variation [164]
CAPN5 OTQ8QM7K Strong Biomarker [165]
CDHR1 OT1ORXCM Strong Biomarker [166]
CIAO3 OT0V91PK Strong Altered Expression [167]
CLUL1 OTYIXQ36 Strong Genetic Variation [168]
CNN2 OTH3CSXA Strong Genetic Variation [76]
COL10A1 OTC4G2YC Strong Genetic Variation [169]
COL4A3 OT6SB8X5 Strong Genetic Variation [76]
COL8A1 OTWBTED2 Strong Genetic Variation [170]
CRX OTH435SV Strong Biomarker [28]
CRYBB2 OTL0Z8E6 Strong Biomarker [64]
CST3 OTNZ6AO4 Strong Genetic Variation [171]
CTNNA1 OTFC725Z Strong Genetic Variation [172]
CTRB1 OTFFF738 Strong Biomarker [67]
DAPL1 OTQZZSZY Strong Altered Expression [173]
DCP1B OTX7PHCI Strong Genetic Variation [103]
DIAPH2 OTBEYFEZ Strong Biomarker [174]
DPF3 OTEWLMNB Strong Genetic Variation [67]
ERCC2 OT1C8HQ4 Strong Genetic Variation [175]
ERCC6 OT2QZKSF Strong Genetic Variation [175]
FMOD OT9EJ5H8 Strong Biomarker [176]
FRK OTEKV1SC Strong Biomarker [177]
FSCN2 OTADS8G3 Strong Genetic Variation [178]
FTCD OTX9HZT5 Strong Genetic Variation [179]
FTMT OTIUX6XG Strong Altered Expression [180]
FUT6 OTBZUQ7F Strong Genetic Variation [76]
GDF6 OTERXWJU Strong Biomarker [181]
GEMIN2 OT4L6TLL Strong Altered Expression [182]
GNB3 OTA6HYBA Strong Biomarker [183]
GNGT2 OTRI3Q10 Strong Genetic Variation [183]
GSTM5 OTMMBFY8 Strong Biomarker [184]
HERC1 OT73FVYZ Strong Genetic Variation [67]
HS3ST4 OTO0UBFN Strong Genetic Variation [67]
IL17RC OTEFOBSS Strong Biomarker [185]
IL2RG OTRZ3OMY Strong Genetic Variation [183]
IMPG1 OT12HBL0 Strong Genetic Variation [186]
MAP2 OT6UYT3X Strong Genetic Variation [187]
MARK4 OT6Z2TGV Strong Genetic Variation [76]
MCUB OTXLLSIZ Strong Genetic Variation [169]
MFRP OTHY9ZA5 Strong Genetic Variation [188]
MYOM2 OTD2UOXW Strong Genetic Variation [189]
MYRIP OTH2TFYH Strong Biomarker [190]
ND2 OTG9OHOX Strong Genetic Variation [91]
NECTIN2 OTIE0W6O Strong Genetic Variation [108]
NELFE OTL4E94L Strong Genetic Variation [125]
NPLOC4 OTC1WUVF Strong Genetic Variation [76]
NT5DC1 OTNI9MFH Strong Genetic Variation [169]
OCA2 OTDWIGBF Strong Biomarker [191]
OPTC OTCASGO0 Strong Genetic Variation [192]
OSBP2 OTDGLB4J Strong Biomarker [193]
OTX2 OTTV05B1 Strong Biomarker [194]
PAGR1 OTXR5PQ8 Strong Genetic Variation [71]
PBX2 OTEBYCAW Strong Genetic Variation [76]
PEA15 OTKCKTSX Strong Biomarker [191]
PILRA OTBE0PLF Strong Genetic Variation [76]
PITPNM3 OTHLZY8D Strong Biomarker [195]
PLA2G12A OTHHCQ17 Strong Genetic Variation [196]
PLEK OTB73XXA Strong Genetic Variation [197]
PLXNA2 OTNNBJMQ Strong Biomarker [198]
PNPLA2 OTR3ERMR Strong Biomarker [199]
PROK1 OT8S7RUG Strong Biomarker [81]
PRPH2 OTNH2G5H Strong Biomarker [200]
PTX3 OTPXHRKU Strong Altered Expression [201]
RAD51B OTCJVRMY Strong Biomarker [96]
RGR OTKCF5AZ Strong Biomarker [202]
RGS10 OTQ8N1QH Strong Genetic Variation [203]
RLBP1 OTCY4D6B Strong Biomarker [111]
ROM1 OTE7H0YV Strong Biomarker [204]
RREB1 OT62460U Strong Genetic Variation [205]
SCAF11 OTX59D0X Strong Altered Expression [182]
SCAPER OT7S3B3P Strong Genetic Variation [206]
SGCD OTRBL3NQ Strong Genetic Variation [207]
SLURP1 OT89YD2E Strong Genetic Variation [208]
STK19 OTYM6437 Strong Genetic Variation [76]
SUCLA2 OTMZD4PW Strong Biomarker [209]
SYN3 OTSGYNA5 Strong Genetic Variation [76]
TFR2 OTMYCCEO Strong Genetic Variation [210]
TNMD OTHLVA9G Strong Genetic Variation [211]
PRPH OT6VUH78 Definitive Genetic Variation [212]
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⏷ Show the Full List of 157 DOT(s)

References

1 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6884).
2 ClinicalTrials.gov (NCT01802866) Safety and Efficacy Assessment Treatment Trials of Emixustat Hydrochloride. U.S. National Institutes of Health.
3 ClinicalTrials.gov (NCT02402660) Tolerability and Effects of ALK-001 on Stargardt Disease. U.S. National Institutes of Health.
4 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800035470)
5 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800032169)
6 ClinicalTrials.gov (NCT00306488) OT-551 Antioxidant Eye Drops to Treat Geographic Atrophy in Age-Related Macular Degeneration. U.S. National Institutes of Health.
7 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
8 2011 Pipeline of Quark Pharm.
9 ClinicalTrials.gov (NCT01527500) Intravitreal LFG316 in Patients With Age-related Macular Degeneration (AMD). U.S. National Institutes of Health.
10 ClinicalTrials.gov (NCT02348359) X-82 to Treat Age-related Macular Degeneration. U.S. National Institutes of Health.
11 ClinicalTrials.gov (NCT00090532) A Study Of The Safety And Efficacy Of AG-013,958 In Subjects With Subfoveal Choroidal Neovascularization Associated With Age-Related Macular Degeneration. U.S. National Institutes of Health.
12 Clinical pipeline report, company report or official report of Genentech (2011).
13 ClinicalTrials.gov (NCT02228304) Study of the Intravitreal Implantation of NT-503-3 Encapsulated Cell Technology (ECT) for the Treatment of Recurrent Choroidal Neovascularization (CNV) Secondary to Age-related Macular Degeneration (AMD). U.S. National Institutes of Health.
14 ClinicalTrials.gov (NCT00229736) A Study of AAV-hAADC-2 in Subjects With Parkinson's Disease. U.S. National Institutes of Health.
15 Clinical pipeline report, company report or official report of Acceleron Pharma (2011).
16 ClinicalTrials.gov (NCT03178149) A Study of the Safety and Tolerability of ASP7317 in Adults Who Are Losing Their Clear, Sharp Central Vision Due to Geographic Atrophy Secondary to Dry Age-related Macular Degeneration. U.S. National Institutes of Health.
17 VEGFR-2 inhibitors and the therapeutic applications thereof: a patent review (2012-2016).Expert Opin Ther Pat. 2017 Sep;27(9):987-1004.
18 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800031573)
19 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2339).
20 Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.Ophthalmology. 2020 Feb;127(2):186-195. doi: 10.1016/j.ophtha.2019.07.011. Epub 2019 Jul 16.
21 The role of complement membrane attack complex in dry and wet AMD - From hypothesis to clinical trials.Exp Eye Res. 2019 Jul;184:266-277. doi: 10.1016/j.exer.2019.05.006. Epub 2019 May 10.
22 New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.BMC Med Genet. 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5.
23 Activator of G-protein signaling 8 is involved in VEGF-induced choroidal neovascularization.Sci Rep. 2019 Feb 7;9(1):1560. doi: 10.1038/s41598-018-38067-4.
24 Genetic LAMP2 deficiency accelerates the age-associated formation of basal laminar deposits in the retina.Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23724-23734. doi: 10.1073/pnas.1906643116. Epub 2019 Nov 7.
25 Parallel findings in age-related macular degeneration and Alzheimer's disease.Prog Retin Eye Res. 2011 Jul;30(4):217-38. doi: 10.1016/j.preteyeres.2011.02.004. Epub 2011 Mar 25.
26 The Placental Growth Factor Pathway and Its Potential Role in Macular Degenerative Disease.Curr Eye Res. 2019 Aug;44(8):813-822. doi: 10.1080/02713683.2019.1614197. Epub 2019 May 24.
27 Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium.Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2366-2387. doi: 10.1167/iovs.16-21162.
28 Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531.
29 Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.J Cell Biol. 2019 Mar 4;218(3):1027-1038. doi: 10.1083/jcb.201806148. Epub 2019 Jan 10.
30 SQSTM1/p62 regulates the production of IL-8 and MCP-1 in IL-1-stimulated human retinal pigment epithelial cells.Cytokine. 2019 Apr;116:70-77. doi: 10.1016/j.cyto.2018.12.015. Epub 2019 Jan 24.
31 Application and interpretation of genome-wide association (GWA) studies for informing pharmacogenomic research - examples from the field of age-related macular degeneration.Curr Mol Med. 2014;14(7):814-32. doi: 10.2174/1566524014666140811113606.
32 C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway.Sci Rep. 2018 Jun 26;8(1):9679. doi: 10.1038/s41598-018-28143-0.
33 Distinct CD40L receptors mediate inflammasome activation and secretion of IL-1 and MCP-1 in cultured human retinal pigment epithelial cells.Exp Eye Res. 2018 May;170:29-39. doi: 10.1016/j.exer.2018.02.014. Epub 2018 Feb 16.
34 Age-Related Macular Degeneration: A Connection between Human Herpes Virus-6A-Induced CD46 Downregulation and Complement Activation?.Front Immunol. 2017 Oct 17;8:1314. doi: 10.3389/fimmu.2017.01314. eCollection 2017.
35 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142.
36 CNTF-mediated protection of photoreceptors requires initial activation of the cytokine receptor gp130 in Mller glial cells.Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4520-9. doi: 10.1073/pnas.1303604110. Epub 2013 Nov 4.
37 Phase 1 dose-escalation study of a siRNA targeting the RTP801 gene in age-related macular degeneration patients.Eye (Lond). 2012 Aug;26(8):1099-105. doi: 10.1038/eye.2012.106. Epub 2012 May 25.
38 In situ regeneration of retinal pigment epithelium by gene transfer of E2F2: a potential strategy for treatment of macular degenerations.Gene Ther. 2017 Dec;24(12):810-818. doi: 10.1038/gt.2017.89. Epub 2017 Nov 30.
39 Ferrochelatase is a therapeutic target for ocular neovascularization.EMBO Mol Med. 2017 Jun;9(6):786-801. doi: 10.15252/emmm.201606561.
40 FPR1 interacts with CFH, HTRA1 and smoking in exudative age-related macular degeneration and polypoidal choroidal vasculopathy.Eye (Lond). 2014 Dec;28(12):1502-10. doi: 10.1038/eye.2014.226. Epub 2014 Oct 3.
41 Elemental concentrations in Choroid-RPE and retina of human eyes with age-related macular degeneration.Exp Eye Res. 2019 Sep;186:107718. doi: 10.1016/j.exer.2019.107718. Epub 2019 Jul 1.
42 ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration.Nat Commun. 2018 Apr 10;9(1):1364. doi: 10.1038/s41467-018-03856-y.
43 Leukotriene B4 promotes neovascularization and macrophage recruitment in murine wet-type AMD models.JCI Insight. 2018 Sep 20;3(18):e96902. doi: 10.1172/jci.insight.96902. eCollection 2018 Sep 20.
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45 MFGE8 does not influence chorio-retinal homeostasis or choroidal neovascularization in vivo.PLoS One. 2012;7(3):e33244. doi: 10.1371/journal.pone.0033244. Epub 2012 Mar 15.
46 Proteomics-based identification and validation of novel plasma biomarkers phospholipid transfer protein and mannan-binding lectin serine protease-1 in age-related macular degeneration.Sci Rep. 2016 Sep 8;6:32548. doi: 10.1038/srep32548.
47 Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.Int J Clin Exp Pathol. 2015 Mar 1;8(3):3174-9. eCollection 2015.
48 An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration.Graefes Arch Clin Exp Ophthalmol. 2012 Jul;250(7):1057-65. doi: 10.1007/s00417-012-1966-z. Epub 2012 Feb 29.
49 Cytotoxic and genotoxic affects of acid mine drainage on fish Channa punctata (Bloch).Ecotoxicol Environ Saf. 2017 Oct;144:72-78. doi: 10.1016/j.ecoenv.2017.06.007. Epub 2017 Jun 8.
50 NLRP3 Upregulation in Retinal Pigment Epithelium in Age-Related Macular Degeneration.Int J Mol Sci. 2016 Jan 8;17(1):73. doi: 10.3390/ijms17010073.
51 Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Hum Mol Genet. 2018 Oct 15;27(20):3507-3518. doi: 10.1093/hmg/ddy240.
52 Impaired monocyte cholesterol clearance initiates age-related retinal degeneration and vision loss.JCI Insight. 2018 Sep 6;3(17):e120824. doi: 10.1172/jci.insight.120824. eCollection 2018 Sep 6.
53 Serum starvation of ARPE-19 changes the cellular distribution of cholesterol and Fibulin3 in patterns reminiscent of age-related macular degeneration.Exp Cell Res. 2017 Dec 15;361(2):333-341. doi: 10.1016/j.yexcr.2017.10.036. Epub 2017 Oct 31.
54 Connexin Hemichannel Block Using Orally Delivered Tonabersat Improves Outcomes in Animal Models of Retinal Disease.Neurotherapeutics. 2020 Jan;17(1):371-387. doi: 10.1007/s13311-019-00786-5.
55 A new and effective method for human retina optic disc segmentation with fuzzy clustering method based on active contour model.Med Biol Eng Comput. 2020 Jan;58(1):25-37. doi: 10.1007/s11517-019-02032-8. Epub 2019 Aug 24.
56 Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.Int J Mol Sci. 2019 Nov 15;20(22):5750. doi: 10.3390/ijms20225750.
57 Vascular adhesion protein-1 blockade suppresses choroidal neovascularization.FASEB J. 2008 Aug;22(8):2928-35. doi: 10.1096/fj.07-105346. Epub 2008 Apr 24.
58 MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration.Genet Med. 2005 Apr;7(4):272-7. doi: 10.1097/01.gim.0000159903.69597.73.
59 Retinal Inhibition of CCR3 Induces Retinal Cell Death in a Murine Model of Choroidal Neovascularization.PLoS One. 2016 Jun 16;11(6):e0157748. doi: 10.1371/journal.pone.0157748. eCollection 2016.
60 Genetic variation in complement regulators and susceptibility to age-related macular degeneration.Immunobiology. 2012 Feb;217(2):158-61. doi: 10.1016/j.imbio.2011.09.002. Epub 2011 Oct 5.
61 Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia.Ophthalmology. 2019 Mar;126(3):393-406. doi: 10.1016/j.ophtha.2018.09.045. Epub 2018 Oct 10.
62 Complement factor D in age-related macular degeneration.Invest Ophthalmol Vis Sci. 2011 Nov 11;52(12):8828-34. doi: 10.1167/iovs.11-7933.
63 Intra-vitreal B crystallin fused to elastin-like polypeptide provides neuroprotection in a mouse model of age-related macular degeneration.J Control Release. 2018 Aug 10;283:94-104. doi: 10.1016/j.jconrel.2018.05.014. Epub 2018 May 18.
64 Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.Ophthalmic Genet. 2010 Sep;31(3):129-34. doi: 10.3109/13816810.2010.486774.
65 The relevance of chemokine signalling in modulating inherited and age-related retinal degenerations.Adv Exp Med Biol. 2014;801:427-33. doi: 10.1007/978-1-4614-3209-8_54.
66 Autoimmune-Mediated Retinopathy in CXCR5-Deficient Mice as the Result of Age-Related Macular Degeneration Associated Proteins Accumulation.Front Immunol. 2019 Aug 14;10:1903. doi: 10.3389/fimmu.2019.01903. eCollection 2019.
67 Genome-wide analysis of disease progression in age-related macular degeneration.Hum Mol Genet. 2018 Mar 1;27(5):929-940. doi: 10.1093/hmg/ddy002.
68 Knockdown of FABP5 mRNA decreases cellular cholesterol levels and results in decreased apoB100 secretion and triglyceride accumulation in ARPE-19 cells.Lab Invest. 2010 Jun;90(6):906-14. doi: 10.1038/labinvest.2009.33. Epub 2009 May 11.
69 C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.Sci Rep. 2018 Jan 26;8(1):1643. doi: 10.1038/s41598-017-18395-7.
70 Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism.Ophthalmic Genet. 2018 Jan-Feb;39(1):68-72. doi: 10.1080/13816810.2017.1369550. Epub 2017 Sep 26.
71 Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association.J Immunol. 2012 Jan 1;188(1):426-35. doi: 10.4049/jimmunol.1102545. Epub 2011 Dec 2.
72 Triamcinolone regulated apopto-phagocytic gene expression patterns in the clearance of dying retinal pigment epithelial cells. A key role of Mertk in the enhanced phagocytosis.Biochim Biophys Acta. 2015 Feb;1850(2):435-46. doi: 10.1016/j.bbagen.2014.10.026. Epub 2014 Oct 27.
73 Susceptibility genes for age-related maculopathy on chromosome 10q26.Am J Hum Genet. 2005 Sep;77(3):389-407. doi: 10.1086/444437. Epub 2005 Jul 26.
74 An association between polymorphism of the heme oxygenase-1 and -2 genes and age-related macular degeneration.Mol Biol Rep. 2012 Mar;39(3):2081-7. doi: 10.1007/s11033-011-0955-3. Epub 2011 Jun 7.
75 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868.
76 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.
77 Age-related macular degeneration is associated with the HLA-Cw*0701 Genotype and the natural killer cell receptor AA haplotype.Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5077-82. doi: 10.1167/iovs.08-1837. Epub 2008 May 30.
78 Dysfunctional autophagy in RPE, a contributing factor in age-related macular degeneration.Cell Death Dis. 2017 Jan 5;8(1):e2537. doi: 10.1038/cddis.2016.453.
79 Wnt signaling in age-related macular degeneration: human macular tissue and mouse model.J Transl Med. 2015 Oct 17;13:330. doi: 10.1186/s12967-015-0683-x.
80 Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.Mol Ther. 2016 Feb;24(1):26-33. doi: 10.1038/mt.2015.168. Epub 2015 Sep 10.
81 Choroidal neovascularization in transgenic mice expressing prokineticin 1: an animal model for age-related macular degeneration.Mol Ther. 2006 Mar;13(3):609-16. doi: 10.1016/j.ymthe.2005.08.024. Epub 2005 Nov 2.
82 Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.Exp Eye Res. 2012 May;98:58-66. doi: 10.1016/j.exer.2012.02.008. Epub 2012 Mar 26.
83 Loss of Function of P2X7 Receptor Scavenger Activity in Aging Mice: A Novel Model for Investigating the Early Pathogenesis of Age-Related Macular Degeneration.Am J Pathol. 2017 Aug;187(8):1670-1685. doi: 10.1016/j.ajpath.2017.04.016. Epub 2017 Jun 17.
84 Vascular Response to Sildenafil Citrate in Aging and Age-Related Macular Degeneration.Sci Rep. 2019 Mar 25;9(1):5049. doi: 10.1038/s41598-019-41509-2.
85 Oxidative stress-induced premature senescence dysregulates VEGF and CFH expression in retinal pigment epithelial cells: Implications for Age-related Macular Degeneration.Redox Biol. 2016 Apr;7:78-87. doi: 10.1016/j.redox.2015.11.011. Epub 2015 Nov 29.
86 Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.PLoS One. 2011;6(10):e25775. doi: 10.1371/journal.pone.0025775. Epub 2011 Oct 6.
87 PEDF expression affects the oxidative and inflammatory state of choroidal endothelial cells.Am J Physiol Cell Physiol. 2018 Apr 1;314(4):C456-C472. doi: 10.1152/ajpcell.00259.2017. Epub 2018 Jan 10.
88 Single nucleotide polymorphism rs13079080 is associated with differential regulation of the succinate receptor 1 (SUCNR1) gene by miRNA-4470.RNA Biol. 2019 Nov;16(11):1547-1554. doi: 10.1080/15476286.2019.1643100. Epub 2019 Jul 24.
89 An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration.Exp Eye Res. 2013 Jan;106:14-23. doi: 10.1016/j.exer.2012.10.003. Epub 2012 Oct 23.
90 miRNAs, single nucleotide polymorphisms (SNPs) and age-related macular degeneration (AMD).Clin Chem Lab Med. 2017 May 1;55(5):763-775. doi: 10.1515/cclm-2016-0898.
91 Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4027-4038. doi: 10.1167/iovs.17-21734.
92 Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Hum Mol Genet. 2014 Jun 15;23(12):3102-14. doi: 10.1093/hmg/ddu014. Epub 2014 Jan 25.
93 CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy.Ophthalmic Genet. 2018 Jan-Feb;39(1):4-10. doi: 10.1080/13816810.2017.1326508. Epub 2017 May 30.
94 Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.Invest Ophthalmol Vis Sci. 2011 Mar 28;52(3):1748-54. doi: 10.1167/iovs.09-5112. Print 2011 Mar.
95 Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.Neurobiol Aging. 2014 Jun;35(6):1510.e7-18. doi: 10.1016/j.neurobiolaging.2013.12.007. Epub 2013 Dec 19.
96 Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.Oncotarget. 2017 Dec 12;9(8):7812-7821. doi: 10.18632/oncotarget.23241. eCollection 2018 Jan 30.
97 Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.
98 The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration.PLoS One. 2014 Feb 19;9(2):e89069. doi: 10.1371/journal.pone.0089069. eCollection 2014.
99 Associations between Serum Vitamin D and Genetic Variants in Vitamin D Pathways and Age-Related Macular Degeneration in the European Eye Study.Ophthalmology. 2017 Jan;124(1):90-96. doi: 10.1016/j.ophtha.2016.09.007. Epub 2016 Oct 28.
100 Copy number polymorphisms in new HapMap III and Singapore populations.J Hum Genet. 2011 Aug;56(8):552-60. doi: 10.1038/jhg.2011.54. Epub 2011 Jun 16.
101 Posttranslational modification by an isolevuglandin diminishes activity of the mitochondrial cytochrome P450 27A1.J Lipid Res. 2013 May;54(5):1421-9. doi: 10.1194/jlr.M035790. Epub 2013 Mar 11.
102 Association study of detoxification genes in age related macular degeneration.Br J Ophthalmol. 2005 Apr;89(4):470-4. doi: 10.1136/bjo.2004.047340.
103 Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.Invest Ophthalmol Vis Sci. 2006 Jan;47(1):329-35. doi: 10.1167/iovs.05-0116.
104 Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.Ophthalmic Genet. 2017 Sep-Oct;38(5):451-458. doi: 10.1080/13816810.2017.1288825. Epub 2017 Mar 1.
105 GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.Retina. 2020 Apr;40(4):663-671. doi: 10.1097/IAE.0000000000002454.
106 Neural stem/progenitor cells circulating in peripheral blood of patients with neovascular form of AMD: a novel view on pathophysiology.Graefes Arch Clin Exp Ophthalmol. 2011 Dec;249(12):1785-94. doi: 10.1007/s00417-011-1767-9. Epub 2011 Aug 17.
107 Association of Single-Nucleotide Polymorphisms in Age-Related Macular Degeneration With Pseudodrusen: Secondary Analysis of Data From the Comparison of AMD Treatments Trials.JAMA Ophthalmol. 2018 Jun 1;136(6):682-688. doi: 10.1001/jamaophthalmol.2018.1231.
108 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.PLoS One. 2013;8(1):e53830. doi: 10.1371/journal.pone.0053830. Epub 2013 Jan 11.
109 Iron importers Zip8 and Zip14 are expressed in retina and regulated by retinal iron levels.Exp Eye Res. 2017 Feb;155:15-23. doi: 10.1016/j.exer.2016.12.008. Epub 2017 Jan 3.
110 Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.Mol Biol Cell. 2011 Dec;22(24):4765-75. doi: 10.1091/mbc.E11-08-0695. Epub 2011 Oct 26.
111 Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.Nat Genet. 2019 Apr;51(4):606-610. doi: 10.1038/s41588-019-0351-9. Epub 2019 Feb 11.
112 Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.Am J Ophthalmol. 2019 Feb;198:223-261. doi: 10.1016/j.ajo.2018.10.022. Epub 2018 Oct 31.
113 Low health literacy levels in patients with chronic retinal disease.BMC Ophthalmol. 2019 Aug 8;19(1):174. doi: 10.1186/s12886-019-1191-1.
114 Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration.Am J Ophthalmol. 2011 Mar;151(3):550-6.e1. doi: 10.1016/j.ajo.2010.08.048. Epub 2011 Jan 13.
115 Identification of aberrantly methylated differentially expressed genes in age-related macular degeneration.Medicine (Baltimore). 2019 Apr;98(14):e15083. doi: 10.1097/MD.0000000000015083.
116 Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration.Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):4041-4051. doi: 10.1167/iovs.19-27827.
117 Genetic polymorphism of the iron-regulatory protein-1 and -2 genes in age-related macular degeneration.Mol Biol Rep. 2012 Jun;39(6):7077-87. doi: 10.1007/s11033-012-1539-6. Epub 2012 Feb 14.
118 Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population.Neurosci Lett. 2012 Apr 4;513(2):233-7. doi: 10.1016/j.neulet.2012.02.050. Epub 2012 Feb 25.
119 Transcriptome Analysis on Monocytes from Patients with Neovascular Age-Related Macular Degeneration.Sci Rep. 2016 Jul 4;6:29046. doi: 10.1038/srep29046.
120 Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.J Hum Genet. 2018 Oct;63(10):1055-1070. doi: 10.1038/s10038-018-0490-3. Epub 2018 Jul 19.
121 Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0.
122 Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.Hum Mol Genet. 2018 Aug 1;27(15):2678-2688. doi: 10.1093/hmg/ddy178.
123 Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.Exp Eye Res. 2017 Feb;155:64-74. doi: 10.1016/j.exer.2016.12.006. Epub 2016 Dec 15.
124 CD93 as a Potential Target in Neovascular Age-Related Macular Degeneration.J Cell Physiol. 2017 Jul;232(7):1767-1773. doi: 10.1002/jcp.25689. Epub 2016 Nov 30.
125 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.Ann Hum Genet. 2013 May;77(3):215-31. doi: 10.1111/ahg.12011.
126 Complement factor Hrelated 3 overexpression affects hepatocellular carcinoma proliferation and apoptosis.Mol Med Rep. 2019 Sep;20(3):2694-2702. doi: 10.3892/mmr.2019.10514. Epub 2019 Jul 23.
127 Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.Ophthalmology. 2018 Jul;125(7):1064-1074. doi: 10.1016/j.ophtha.2017.12.023. Epub 2018 Feb 2.
128 Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.Hum Genet. 2019 Oct;138(10):1171-1182. doi: 10.1007/s00439-019-02050-4. Epub 2019 Jul 31.
129 A clinical and molecular characterisation of CRB1-associated maculopathy.Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.
130 Cytokine profiles in the aqueous humor and serum of patients with dry and treated wet age-related macular degeneration.PLoS One. 2018 Aug 29;13(8):e0203337. doi: 10.1371/journal.pone.0203337. eCollection 2018.
131 Gene expression profiles of primary retinal pigment epithelial cells from apolipoprotein E knockout and human apolipoprotein E2 transgenic mice.Genet Mol Res. 2015 Mar 13;14(1):1855-67. doi: 10.4238/2015.March.13.14.
132 Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4.
133 New loci and coding variants confer risk for age-related macular degeneration in East Asians.Nat Commun. 2015 Jan 28;6:6063. doi: 10.1038/ncomms7063.
134 The oral iron chelator deferiprone protects against iron overload-induced retinal degeneration.Invest Ophthalmol Vis Sci. 2011 Feb 16;52(2):959-68. doi: 10.1167/iovs.10-6207.
135 TCCR/WSX-1 is a novel angiogenic factor in age-related macular degeneration.Mol Vis. 2012;18:234-40. Epub 2012 Jan 28.
136 Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3123-9.
137 Amyloid peptides overexpression in retinal pigment epithelial cells via AAV-mediated gene transfer mimics AMD-like pathology in mice.Sci Rep. 2017 Jun 12;7(1):3222. doi: 10.1038/s41598-017-03397-2.
138 Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis.Curr Eye Res. 2016 Dec;41(12):1519-1525. doi: 10.3109/02713683.2016.1158274. Epub 2016 Jun 7.
139 The association of smokeless tobacco use and pack-years of smokeless tobacco with age-related macular degeneration in Indian population.Cutan Ocul Toxicol. 2017 Sep;36(3):253-258. doi: 10.1080/15569527.2016.1265548. Epub 2017 Jan 11.
140 LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14.
141 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.
142 MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration.Ophthalmology. 2015 Nov;122(11):2295-2302.e2. doi: 10.1016/j.ophtha.2015.07.032. Epub 2015 Sep 1.
143 Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration.PLoS One. 2013;8(1):e54339. doi: 10.1371/journal.pone.0054339. Epub 2013 Jan 24.
144 Identification of pathogenic genes and upstream regulators in age-related macular degeneration.BMC Ophthalmol. 2017 Jun 26;17(1):102. doi: 10.1186/s12886-017-0498-z.
145 Genome-wide analysis of copy number variants in age-related macular degeneration.Hum Genet. 2011 Jan;129(1):91-100. doi: 10.1007/s00439-010-0904-6. Epub 2010 Oct 28.
146 FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.Invest Ophthalmol Vis Sci. 2014 May 8;55(6):3543-54. doi: 10.1167/iovs.14-14047.
147 Lack of P4H-TM in mice results in age-related retinal and renal alterations.Hum Mol Genet. 2016 Sep 1;25(17):3810-3823. doi: 10.1093/hmg/ddw228. Epub 2016 Jul 27.
148 Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration?"Yu Y. Souied EH
149 Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.Ophthalmic Genet. 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063.
150 A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.PLoS One. 2013 Nov 11;8(11):e78274. doi: 10.1371/journal.pone.0078274. eCollection 2013.
151 Differential DNA methylation identified in the blood and retina of AMD patients.Epigenetics. 2015;10(8):698-707. doi: 10.1080/15592294.2015.1060388.
152 Acute Stress Responses Are Early Molecular Events of Retinal Degeneration in Abca4-/-Rdh8-/- Mice After Light Exposure.Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3257-67. doi: 10.1167/iovs.15-18993.
153 DNA sequence variants in PPARGC1A, a gene encoding a coactivator of the -3 LCPUFA sensing PPAR-RXR transcription complex, are associated with NV AMD and AMD-associated loci in genes of complement and VEGF signaling pathways.PLoS One. 2013;8(1):e53155. doi: 10.1371/journal.pone.0053155. Epub 2013 Jan 15.
154 Macrophage microRNA-150 promotes pathological angiogenesis as seen in age-related macular degeneration.JCI Insight. 2018 Apr 5;3(7):e120157. doi: 10.1172/jci.insight.120157. eCollection 2018 Apr 5.
155 A SEMA3E mutant resistant to cleavage by furins (UNCL-SEMA3E) inhibits choroidal neovascularization.Exp Eye Res. 2016 Dec;153:186-194. doi: 10.1016/j.exer.2016.10.004. Epub 2016 Oct 7.
156 Multimodal Evaluation of the Fellow Eye of Patients with Retinal Angiomatous Proliferation.Ophthalmic Res. 2018;59(2):88-97. doi: 10.1159/000481262. Epub 2017 Oct 25.
157 A novel, multiplexed targeted mass spectrometry assay for quantification of complement factor H (CFH) variants and CFH-related proteins 1-5 in human plasma.Proteomics. 2017 Mar;17(6):10.1002/pmic.201600237. doi: 10.1002/pmic.201600237.
158 Increase in peripheral blood mononuclear cell Toll-like receptor 2/3 expression and reactivity to their ligands in a cohort of patients with wet age-related macular degeneration.Mol Vis. 2013 Aug 6;19:1826-33. eCollection 2013.
159 Expression analysis of an evolutionarily conserved alternative splicing factor, Sfrs10, in age-related macular degeneration.PLoS One. 2013 Sep 30;8(9):e75964. doi: 10.1371/journal.pone.0075964. eCollection 2013.
160 CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.Acta Ophthalmol. 2015 Dec;93(8):e658-66. doi: 10.1111/aos.12790. Epub 2015 Jul 8.
161 Imaging, Genetic, and Demographic Factors Associated With Conversion to Neovascular Age-Related Macular Degeneration: Secondary Analysis of a Randomized Clinical Trial.JAMA Ophthalmol. 2019 Jul 1;137(7):738-744. doi: 10.1001/jamaophthalmol.2019.0868.
162 Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions.J Immunol. 2013 Mar 1;190(5):2049-57. doi: 10.4049/jimmunol.1201751. Epub 2013 Jan 30.
163 Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Hum Mol Genet. 2011 Feb 1;20(3):510-27. doi: 10.1093/hmg/ddq496. Epub 2010 Nov 15.
164 Co-Expression of Wild-Type and Mutant S163R C1QTNF5 in Retinal Pigment Epithelium.Adv Exp Med Biol. 2018;1074:61-66. doi: 10.1007/978-3-319-75402-4_8.
165 Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.Sci Rep. 2019 May 20;9(1):7608. doi: 10.1038/s41598-019-44031-7.
166 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891.
167 Neovascular age-related macular degeneration management in the third year: final results from the TREX-AMD randomised trial.Br J Ophthalmol. 2018 Apr;102(4):460-464. doi: 10.1136/bjophthalmol-2017-310822. Epub 2017 Aug 4.
168 Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration.Ophthalmic Genet. 2006 Dec;27(4):151-5. doi: 10.1080/13816810600976871.
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170 Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26.
171 CRISPR/Cas9-mediated one step bi-allelic change of genomic DNA in iPSCs and human RPE cells in vitro with dual antibiotic selection.Sci Rep. 2019 Jan 17;9(1):174. doi: 10.1038/s41598-018-36740-2.
172 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21.
173 DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium.Hum Mol Genet. 2017 May 1;26(9):1612-1621. doi: 10.1093/hmg/ddx063.
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179 Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.JAMA Ophthalmol. 2019 Aug 1;137(8):867-876. doi: 10.1001/jamaophthalmol.2019.1318.
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184 GSTM1 and GSTM5 Genetic Polymorphisms and Expression in Age-Related Macular Degeneration.Curr Eye Res. 2016;41(3):410-6. doi: 10.3109/02713683.2015.1016179. Epub 2015 Apr 21.
185 Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration.PLoS One. 2014 Apr 29;9(4):e95900. doi: 10.1371/journal.pone.0095900. eCollection 2014.
186 Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.
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188 Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. doi: 10.1167/iovs.05-0159.
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193 Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration.Genet Test. 2007 Winter;11(4):421-6. doi: 10.1089/gte.2007.0021.
194 Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.Mol Ther. 2018 Jan 3;26(1):219-237. doi: 10.1016/j.ymthe.2017.09.007. Epub 2017 Sep 8.
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196 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7401-6. doi: 10.1073/pnas.0912702107. Epub 2010 Apr 12.
197 PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.Mol Vis. 2007 Nov 26;13:2153-9.
198 Incomplete Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Classification of Atrophy Meeting Report 4.Ophthalmology. 2020 Mar;127(3):394-409. doi: 10.1016/j.ophtha.2019.09.035. Epub 2019 Sep 30.
199 Negative regulators of angiogenesis: important targets for treatment of exudative AMD.Clin Sci (Lond). 2017 Jul 5;131(15):1763-1780. doi: 10.1042/CS20170066. Print 2017 Aug 1.
200 A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3388-3397. doi: 10.1167/iovs.18-26415.
201 Oxidative Stress-Induced Pentraxin 3 Expression Human Retinal Pigment Epithelial Cells is Involved in the Pathogenesis of Age-Related Macular Degeneration.Int J Mol Sci. 2019 Nov 29;20(23):6028. doi: 10.3390/ijms20236028.
202 Exon-skipping variant of RGR opsin in human retina and pigment epithelium.Exp Eye Res. 2006 Jul;83(1):133-40. doi: 10.1016/j.exer.2005.11.013. Epub 2006 Mar 10.
203 Age-related changes in regulator of G-protein signaling (RGS)-10 expression in peripheral and central immune cells may influence the risk for age-related degeneration.Neurobiol Aging. 2015 May;36(5):1982-93. doi: 10.1016/j.neurobiolaging.2015.02.006. Epub 2015 Feb 13.
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205 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400. doi: 10.1073/pnas.0912019107. Epub 2010 Apr 12.
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207 Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration.Int J Mol Sci. 2019 Nov 4;20(21):5480. doi: 10.3390/ijms20215480.
208 Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Prog Retin Eye Res. 2010 May;29(3):169-90. doi: 10.1016/j.preteyeres.2010.02.002. Epub 2010 Mar 3.
209 Effect of A protein on inhibiting proliferation and promoting apoptosis of retinal pigment epithelial cells.Int J Ophthalmol. 2018 Jun 18;11(6):929-934. doi: 10.18240/ijo.2018.06.06. eCollection 2018.
210 Variability of the transferrin receptor 2 gene in AMD.Dis Markers. 2014;2014:507356. doi: 10.1155/2014/507356. Epub 2014 Feb 6.
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