General Information of Disease (ID: DISOVQ9P)

Disease Name Kidney failure
Synonyms renal insufficiency; renal failure syndrome; renal failure; failure, renal
Disease Class GB60-GB6Z: Kidney failure
Definition An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.
Disease Hierarchy
DISXWP4P: Nephropathy
DISOVQ9P: Kidney failure
ICD Code
ICD-11
ICD-11: GB6Z
Expand ICD-11
'GB6Z
Expand ICD-10
'N17-N19; 'N19; 'N25.0
Disease Identifiers
MONDO ID
MONDO_0001106
MESH ID
D051437
UMLS CUI
C0035078
MedGen ID
11177
SNOMED CT ID
42399005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
LHW090 DM11LCS Phase 2 NA [1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 64 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IFNA2 TTSIUJ9 Limited Biomarker [2]
LEPR TT0HD6V Limited Biomarker [3]
PPARG TTT2SVW Limited Biomarker [4]
SLCO4C1 TTACFNR Limited Biomarker [5]
CD46 TTMS7DF Disputed Genetic Variation [6]
LCN2 TTKTLAI moderate Biomarker [7]
ADAMTS13 TTUREBK Strong Biomarker [8]
ADCYAP1 TTW4LYC Strong Biomarker [9]
ADRB1 TTR6W5O Strong Genetic Variation [10]
AGT TT5C0UB Strong Biomarker [11]
AGTR1 TT8DBY3 Strong Biomarker [12]
AGXT TTF5NVW Strong Genetic Variation [13]
ANPEP TTPHMWB Strong Biomarker [14]
APOA4 TTNC3WS Strong Genetic Variation [15]
APOH TT2OUI9 Strong Biomarker [16]
APOL1 TTDB8PW Strong Genetic Variation [17]
B2M TTY7FKA Strong Biomarker [18]
CASP6 TTKW4ML Strong Genetic Variation [19]
CD80 TT89Z17 Strong Biomarker [20]
CFH TTUW6OP Strong Genetic Variation [6]
CLCNKB TTR68GQ Strong Genetic Variation [21]
CTSA TT5NILS Strong Biomarker [22]
CUBN TT9YLCR Strong Biomarker [23]
CYP11B2 TT9MNE2 Strong Genetic Variation [12]
CYP24A1 TT82UI1 Strong Biomarker [24]
EPX TTCIO0M Strong Genetic Variation [25]
ESRRG TT9ZRHB Strong Altered Expression [26]
FECH TTQ6VF4 Strong Genetic Variation [25]
FGF21 TTQ916P Strong Genetic Variation [27]
G6PC TTBQMJ8 Strong Biomarker [28]
GLA TTIS03D Strong Altered Expression [29]
GOT1 TTU507L Strong Biomarker [30]
HAMP TTRV5YJ Strong Altered Expression [31]
INS TTZOPHG Strong Biomarker [32]
ITGA8 TT1FW8B Strong Genetic Variation [33]
KDM5A TTIG67W Strong Biomarker [34]
KLB TTARBVH Strong Altered Expression [35]
KLK1 TT5T3P6 Strong Altered Expression [36]
LCAT TTGZ91P Strong Genetic Variation [37]
LPA TTU9LGY Strong Biomarker [38]
MME TT5TKPM Strong Biomarker [39]
NAMPT TTD1WIG Strong Therapeutic [40]
NOX4 TTQRBSJ Strong Biomarker [41]
NPR3 TTWVLS6 Strong Biomarker [42]
PARP1 TTVDSZ0 Strong Biomarker [43]
PTH TT6F7GZ Strong Biomarker [44]
PTH1R TTFPD47 Strong Altered Expression [45]
REN TTB2MXP Strong Genetic Variation [46]
RHCG TTN5MZ3 Strong Biomarker [47]
SLC17A5 TTFSUIA Strong Biomarker [48]
SLC22A2 TT0XOJN Strong Biomarker [49]
SLC2A9 TTIF3GB Strong Genetic Variation [50]
SLC34A2 TTQPZTM Strong Biomarker [51]
SLC5A2 TTF8JAT Strong Biomarker [52]
SLCO1B3 TTU86P0 Strong Genetic Variation [53]
SUCNR1 TT4FX9Y Strong Biomarker [54]
TBXA2R TT2O84V Strong Therapeutic [55]
TLR2 TTY7ZHS Strong Biomarker [56]
TLR4 TTISGCA Strong Biomarker [57]
TRPC5 TT32NQ1 Strong Biomarker [58]
TRPC6 TTRBT3W Strong Genetic Variation [59]
UTS2 TTERU0T Strong Altered Expression [60]
APOE TTKS9CB Definitive Genetic Variation [61]
EDN1 TTJR60Z Definitive ModifyingMutation [62]
------------------------------------------------------------------------------------
⏷ Show the Full List of 64 DTT(s)
This Disease Is Related to 4 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A5 DTPGHJ7 Strong Biomarker [63]
SLC2A6 DTS4MKQ Strong Genetic Variation [50]
SLC7A7 DTE4HJ8 Strong Genetic Variation [64]
SLC9C1 DT9J8DO Strong Biomarker [65]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
APRT DE2MV1R Strong Biomarker [66]
HAGH DE05IKP Strong Biomarker [67]
MT1A DE5ME8A Strong Biomarker [68]
MT2A DEFKGT7 Strong Biomarker [68]
------------------------------------------------------------------------------------
This Disease Is Related to 95 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFHR5 OT7BMOYE Limited Biomarker [69]
CYBA OT16N9ZO Limited Genetic Variation [70]
PODXL OTPNQXF3 Limited Genetic Variation [71]
RMND1 OT7I6RBT Limited Genetic Variation [72]
SMARCAL1 OTTKXLUZ Limited Genetic Variation [73]
NPHP1 OTZHCFFQ Disputed Biomarker [74]
NPHS2 OTLCNUII Disputed Genetic Variation [75]
STX2 OTO2IDDR Disputed Biomarker [76]
CLDN19 OTVD6IBL moderate Genetic Variation [77]
ACMSD OTPSXPSF Strong Biomarker [78]
ACTN4 OTCNZAJ5 Strong Biomarker [79]
ADD1 OTTF68DC Strong Genetic Variation [80]
ADGRF5 OTWU7AOO Strong Biomarker [81]
ADGRL4 OTN1GAG7 Strong Biomarker [81]
ANKH OTCN25R5 Strong Biomarker [82]
AQP2 OTQLBKK6 Strong Altered Expression [83]
ARSL OTF1VTCR Strong Biomarker [84]
ATRNL1 OTY5JUX2 Strong Biomarker [85]
BNC2 OTU22H9Z Strong Biomarker [86]
BSND OTYWZWPD Strong Genetic Variation [87]
BTBD8 OT3A3RD7 Strong Genetic Variation [88]
CABIN1 OT4G5CIK Strong Biomarker [89]
CCDC51 OTOJNHNA Strong Biomarker [90]
CD2AP OTC76KQM Strong Biomarker [91]
CD5L OTPY4WQR Strong Biomarker [92]
CLCN5 OT9YXZSO Strong Genetic Variation [23]
CLDN16 OTTHAIKR Strong Genetic Variation [93]
CNDP1 OTOYSQG7 Strong Biomarker [94]
COL4A3 OT6SB8X5 Strong Genetic Variation [95]
COL4A4 OT9G0MCT Strong Genetic Variation [96]
COL4A5 OTHG60RE Strong Genetic Variation [97]
COL4A6 OTUREU5Z Strong Genetic Variation [98]
COQ8B OTBY50BD Strong Genetic Variation [99]
DEGS1 OT4WXPKW Strong Biomarker [100]
DESI1 OTFNIW98 Strong Biomarker [101]
DGKE OTWS86AS Strong Genetic Variation [102]
DHX40 OTOL02QN Strong Biomarker [103]
DLG1 OTCRZYWT Strong Biomarker [104]
DSPP OT1TYNDN Strong Biomarker [105]
ETF1 OTH8C5U5 Strong Genetic Variation [106]
EYA1 OTHU807A Strong Genetic Variation [107]
FBXO32 OTUE978R Strong Biomarker [108]
FERMT2 OTZNPWWX Strong Altered Expression [109]
FJX1 OT8SVTSS Strong Biomarker [110]
FRMD3 OT0CD2GG Strong Genetic Variation [111]
GCNT2 OTRUIMC4 Strong Biomarker [30]
GDF11 OTOSNMND Strong Biomarker [112]
GLIS2 OTOUUV1X Strong Biomarker [113]
GUCA2A OTUSF75G Strong Biomarker [114]
HBS1L OTA3U1N6 Strong Genetic Variation [115]
HLF OTTRK9XN Strong Biomarker [116]
IDH2 OTTQA4PB Strong Biomarker [117]
INF2 OT8ZM13C Strong Genetic Variation [118]
INVS OT8KPESR Strong Genetic Variation [119]
IQCB1 OTYQ28V9 Strong Genetic Variation [120]
KCNMB1 OTO4KNJ4 Strong Genetic Variation [121]
KIF3A OTMUBSSK Strong Altered Expression [122]
KIR2DS4 OT00N6UJ Strong Biomarker [123]
KIRREL2 OTSLTR4Y Strong Genetic Variation [124]
KL OTD4VWU6 Strong Altered Expression [125]
LAMA5 OTIIXE4M Strong Genetic Variation [126]
LAMB2 OT71OI2Y Strong Genetic Variation [127]
LMX1B OTM8145D Strong Biomarker [128]
LRSAM1 OTOKWR6C Strong Genetic Variation [129]
MAP1S OT5WUD4C Strong Altered Expression [130]
MASP1 OTWWCNZP Strong Altered Expression [131]
MPV17 OT579DMU Strong Biomarker [132]
MRPS7 OT57AX7G Strong Genetic Variation [133]
MSX2 OT1WDKE1 Strong Altered Expression [134]
MTRF1 OTRTUUM4 Strong Genetic Variation [106]
MYH9 OT94Z706 Strong Genetic Variation [135]
MZB1 OT071TET Strong Biomarker [136]
NPHS1 OT21JD3P Strong Genetic Variation [59]
NT5C1A OTS7UF36 Strong Genetic Variation [89]
NXPH1 OTGKX860 Strong Genetic Variation [137]
OCRL OTQ3L42N Strong Genetic Variation [138]
PAX2 OTKP1N8F Strong Genetic Variation [139]
PDLIM3 OTVXQC81 Strong Biomarker [85]
PHEX OTG7N3J7 Strong Biomarker [140]
PIK3C3 OTLUM9L7 Strong Genetic Variation [141]
PKD1 OT5ALRZ5 Strong Genetic Variation [142]
PKD2 OTIXBU8H Strong Genetic Variation [143]
PKHD1 OTAH8SMF Strong Genetic Variation [144]
PPARGC1A OTHCDQ22 Strong Biomarker [145]
PPP6R3 OTIXD60Q Strong Biomarker [146]
RAPGEF5 OT53VS75 Strong Biomarker [147]
RGN OTD04KB1 Strong Altered Expression [148]
RUVBL1 OTWV19L7 Strong Biomarker [149]
SALL1 OTYYZGLH Strong Genetic Variation [150]
SIX6 OTD1RD9D Strong Genetic Variation [151]
SLC35G1 OTKZUA8O Strong Biomarker [101]
SQOR OTTLD0KB Strong Altered Expression [152]
TIMM23 OTAAS85T Strong Biomarker [153]
NLGN3 OTKDEC1Q Definitive Biomarker [154]
SOX18 OTPUMHWA Definitive Genetic Variation [155]
------------------------------------------------------------------------------------
⏷ Show the Full List of 95 DOT(s)

References

1 ClinicalTrials.gov (NCT02515331) Safety and Efficacy Study of LHW090 in Resistant Hypertension Patients.
2 Interferon alfa-2b/melphalan/prednisone in previously untreated patients with multiple myeloma: a phase I-II trial.Invest New Drugs. 1987;5 Suppl:S41-6. doi: 10.1007/BF00207262.
3 Coagonist of glucagon-like peptide-1 and glucagon receptors ameliorates kidney injury in murine models of obesity and diabetes mellitus.World J Diabetes. 2018 Jun 15;9(6):80-91. doi: 10.4239/wjd.v9.i6.80.
4 Nephropathy in Pparg-null mice highlights PPAR systemic activities in metabolism and in the immune system.PLoS One. 2017 Feb 9;12(2):e0171474. doi: 10.1371/journal.pone.0171474. eCollection 2017.
5 Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney. Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3569-74.
6 Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation.Blood. 2017 Mar 2;129(9):1184-1196. doi: 10.1182/blood-2016-07-728253. Epub 2017 Jan 5.
7 Urinary NGAL and RBP Are Biomarkers of Normoalbuminuric Renal Insufficiency in Type 2 Diabetes Mellitus.J Immunol Res. 2019 Sep 15;2019:5063089. doi: 10.1155/2019/5063089. eCollection 2019.
8 Neutrophil Protease Cleavage of Von Willebrand Factor in Glomeruli - An Anti-thrombotic Mechanism in the Kidney.EBioMedicine. 2017 Feb;16:302-311. doi: 10.1016/j.ebiom.2017.01.032. Epub 2017 Jan 24.
9 Pituitary adenylate cyclase-activating polypeptide prevents cisplatin-induced renal failure.J Mol Neurosci. 2011 Jan;43(1):58-66. doi: 10.1007/s12031-010-9394-1. Epub 2010 Jun 1.
10 Variation at the beta-1 adrenoceptor gene locus affects left ventricular mass in renal failure.J Nephrol. 2002 Sep-Oct;15(5):512-8.
11 Exacerbation of acute kidney injury by bone marrow stromal cells from rats with persistent renin-angiotensin system activation.Clin Sci (Lond). 2015 Jun;128(11):735-47. doi: 10.1042/CS20140445.
12 Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.J Hypertens. 2005 Feb;23(2):309-16. doi: 10.1097/00004872-200502000-00013.
13 Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.Transpl Immunol. 2016 Nov;39:60-65. doi: 10.1016/j.trim.2016.08.008. Epub 2016 Aug 25.
14 Increased myocardial ischemia-reperfusion injury in renal failure involves cardiac adiponectin signal deficiency.Am J Physiol Endocrinol Metab. 2014 May 1;306(9):E1055-64. doi: 10.1152/ajpendo.00428.2013. Epub 2014 Mar 4.
15 Apolipoprotein A-IV predicts progression of chronic kidney disease: the mild to moderate kidney disease study.J Am Soc Nephrol. 2006 Feb;17(2):528-36. doi: 10.1681/ASN.2005070733. Epub 2005 Dec 28.
16 Role of tissue factor in a mouse model of thrombotic microangiopathy induced by antiphospholipid antibodies.Blood. 2009 Aug 20;114(8):1675-83. doi: 10.1182/blood-2009-01-199117. Epub 2009 Jun 17.
17 African American Living Donors' Attitudes About APOL1 Genetic Testing: A Mixed Methods Study.Am J Kidney Dis. 2018 Dec;72(6):819-833. doi: 10.1053/j.ajkd.2018.07.017. Epub 2018 Oct 22.
18 Hemodialysis-related amyloidosis: Is it still relevant?.Semin Dial. 2018 Nov;31(6):612-618. doi: 10.1111/sdi.12720. Epub 2018 Jun 12.
19 Transcriptional activation of caspase-6 and -7 genes by cisplatin-induced p53 and its functional significance in cisplatin nephrotoxicity.Cell Death Differ. 2008 Mar;15(3):530-44. doi: 10.1038/sj.cdd.4402287. Epub 2007 Dec 7.
20 Valsartan inhibited the accumulation of dendritic cells in rat fibrotic renal tissue.Cell Mol Immunol. 2006 Jun;3(3):213-20.
21 Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.Eur J Pediatr. 2009 Sep;168(9):1129-33. doi: 10.1007/s00431-008-0883-y. Epub 2008 Dec 3.
22 A Brazilian galactosialidosis patient given renal transplantation: a case report.J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S205-8. doi: 10.1007/s10545-008-0730-3. Epub 2008 Oct 21.
23 Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):7014-9. doi: 10.1073/pnas.1302063110. Epub 2013 Apr 9.
24 Effect of vitamin D metabolites on calcitriol degradative enzymes in renal failure.Kidney Int. 1994 Feb;45(2):509-14. doi: 10.1038/ki.1994.66.
25 Porphyria in Switzerland, 15 years experience.Swiss Med Wkly. 2009 Apr 4;139(13-14):198-206. doi: 10.4414/smw.2009.12496.
26 Genomic integration of ERR-HNF1 regulates renal bioenergetics and prevents chronic kidney disease.Proc Natl Acad Sci U S A. 2018 May 22;115(21):E4910-E4919. doi: 10.1073/pnas.1804965115. Epub 2018 May 7.
27 A single combination gene therapy treats multiple age-related diseases.Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23505-23511. doi: 10.1073/pnas.1910073116. Epub 2019 Nov 4.
28 Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy.J Inherit Metab Dis. 2017 Sep;40(5):703-708. doi: 10.1007/s10545-017-0054-2. Epub 2017 Jun 13.
29 Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.
30 Low contrast material dose coronary computed tomographic angiography using a dual-layer spectral detector system in patients at risk for contrast-induced nephropathy.Br J Radiol. 2019 Feb;92(1094):20180215. doi: 10.1259/bjr.20180215. Epub 2018 Nov 14.
31 Association of Hepcidin With Anemia Parameters in Incident Dialysis Patients: Differences Between Dialysis Modalities.Ther Apher Dial. 2020 Feb;24(1):4-16. doi: 10.1111/1744-9987.12837. Epub 2019 Jun 10.
32 Reversible impairment of renal function associated with enalapril in a diabetic patient.CMAJ. 1998 Nov 17;159(10):1279-81.
33 A promoter polymorphism of the alpha 8 integrin gene and the progression of autosomal-dominant polycystic kidney disease.Nephron Clin Pract. 2008;108(3):c169-75. doi: 10.1159/000116887. Epub 2008 Feb 14.
34 The therapeutic effect of dexmedetomidine on protection from renal failure via inhibiting KDM5A in lipopolysaccharide-induced sepsis of mice.Life Sci. 2019 Dec 15;239:116868. doi: 10.1016/j.lfs.2019.116868. Epub 2019 Nov 1.
35 Klotho expression in long bones regulates FGF23 production during renal failure.FASEB J. 2017 May;31(5):2050-2064. doi: 10.1096/fj.201601036R. Epub 2017 Feb 9.
36 Blockade of endogenous tissue kallikrein aggravates renal injury by enhancing oxidative stress and inhibiting matrix degradation.Am J Physiol Renal Physiol. 2010 Apr;298(4):F1033-40. doi: 10.1152/ajprenal.00518.2009. Epub 2010 Jan 20.
37 Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs).Clin Nephrol. 2008 Mar;69(3):213-8. doi: 10.5414/cnp69213.
38 Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia.Int J Cardiol. 2015 Dec 15;201:633-8. doi: 10.1016/j.ijcard.2015.08.146. Epub 2015 Aug 21.
39 Neprilysin, the kidney brush border neutral proteinase: a possible potential target for ischemic renal injury.Toxicol Mech Methods. 2020 Feb;30(2):88-99. doi: 10.1080/15376516.2019.1669246. Epub 2019 Oct 10.
40 The renoprotective effect of curcumin in cisplatin-induced nephrotoxicity.Ren Fail. 2015 Mar;37(2):332-6. doi: 10.3109/0886022X.2014.986005. Epub 2015 Jan 16.
41 p-Cresyl sulfate causes renal tubular cell damage by inducing oxidative stress by activation of NADPH oxidase.Kidney Int. 2013 Apr;83(4):582-92. doi: 10.1038/ki.2012.448. Epub 2013 Jan 16.
42 The guanylate cyclase C agonist linaclotide ameliorates the gut-cardio-renal axis in an adenine-induced mouse model of chronic kidney disease.Nephrol Dial Transplant. 2020 Feb 1;35(2):250-264. doi: 10.1093/ndt/gfz126.
43 Role of the poly(ADP-ribose)polymerase activity in vancomycin-induced renal injury.Toxicol Lett. 2010 Feb 1;192(2):91-6. doi: 10.1016/j.toxlet.2009.10.002. Epub 2009 Oct 13.
44 Factors involved in phenoconversion of CYP3A using 4-hydroxycholesterol in stable kidney transplant recipients.Pharmacol Rep. 2019 Apr;71(2):276-281. doi: 10.1016/j.pharep.2018.12.007. Epub 2018 Dec 15.
45 Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development.Pediatr Nephrol. 2000 Jul;14(7):606-11. doi: 10.1007/s004670000343.
46 Effects of Hydroxychloroquine on Proteinuria in IgA Nephropathy: A Randomized Controlled Trial.Am J Kidney Dis. 2019 Jul;74(1):15-22. doi: 10.1053/j.ajkd.2019.01.026. Epub 2019 Mar 25.
47 Effect of reduced renal mass on renal ammonia transporter family, Rh C glycoprotein and Rh B glycoprotein, expression.Am J Physiol Renal Physiol. 2007 Oct;293(4):F1238-47. doi: 10.1152/ajprenal.00151.2007. Epub 2007 Jul 25.
48 An oral adsorbent, AST-120 protects against the progression of oxidative stress by reducing the accumulation of indoxyl sulfate in the systemic circulation in renal failure.Pharm Res. 2007 Jul;24(7):1283-9. doi: 10.1007/s11095-007-9248-x. Epub 2007 Mar 27.
49 Aristolochic acid-induced destruction of organic ion transporters and fatty acid metabolic disorder in the kidney of rats.Toxicol Lett. 2011 Feb 25;201(1):72-9. doi: 10.1016/j.toxlet.2010.12.007. Epub 2010 Dec 15.
50 A genetic marker of hyperuricemia predicts cardiovascular events in a meta-analysis of three cohort studies in high risk patients.Nutr Metab Cardiovasc Dis. 2015 Dec;25(12):1087-94. doi: 10.1016/j.numecd.2015.08.004. Epub 2015 Aug 21.
51 The role of the gastrointestinal tract in phosphate homeostasis in health and chronic kidney disease.Curr Opin Nephrol Hypertens. 2013 Jul;22(4):481-7. doi: 10.1097/MNH.0b013e3283621310.
52 SGLT2 inhibitors for the prevention of kidney failure in patients with type 2 diabetes: a systematic review and meta-analysis.Lancet Diabetes Endocrinol. 2019 Nov;7(11):845-854. doi: 10.1016/S2213-8587(19)30256-6. Epub 2019 Sep 5.
53 Influence of SLCO1B3 gene polymorphism on the pharmacokinetics of digoxin in terminal renal failure.Drug Metab Pharmacokinet. 2008;23(6):406-11. doi: 10.2133/dmpk.23.406.
54 Citric acid cycle intermediates as ligands for orphan G-protein-coupled receptors.Nature. 2004 May 13;429(6988):188-93. doi: 10.1038/nature02488.
55 Acute cholestasis-induced renal failure: effects of antioxidants and ligands for the thromboxane A2 receptor.Kidney Int. 1999 Jan;55(1):271-7. doi: 10.1046/j.1523-1755.1999.00252.x.
56 Cyclosporine-induced renal injury induces toll-like receptor and maturation of dendritic cells.Transplantation. 2005 Sep 15;80(5):691-9. doi: 10.1097/01.tp.0000173594.69089.a0.
57 TLR4-mediated inflammation is a key pathogenic event leading to kidney damage and fibrosis in cyclosporine nephrotoxicity.Arch Toxicol. 2017 Apr;91(4):1925-1939. doi: 10.1007/s00204-016-1830-8. Epub 2016 Sep 1.
58 Charting a TRP to Novel Therapeutic Destinations for Kidney Diseases.Trends Pharmacol Sci. 2019 Dec;40(12):911-918. doi: 10.1016/j.tips.2019.10.001. Epub 2019 Nov 5.
59 Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.Am J Transplant. 2015 Dec;15(12):3229-38. doi: 10.1111/ajt.13378. Epub 2015 Jul 3.
60 Urotensin receptor antagonist palosuran attenuates cyclosporine-a-induced nephrotoxicity in rats.Adv Clin Exp Med. 2019 Oct;28(10):1393-1401. doi: 10.17219/acem/104544.
61 Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E.Crit Rev Clin Lab Sci. 2014 Feb;51(1):46-62. doi: 10.3109/10408363.2013.870526. Epub 2014 Jan 9.
62 Telmisartan prevents the progression of renal injury in daunorubicin rats with the alteration of angiotensin II and endothelin-1 receptor expression associated with its PPAR- agonist actions.Toxicology. 2011 Jan 11;279(1-3):91-9. doi: 10.1016/j.tox.2010.09.013. Epub 2010 Oct 1.
63 Recurrent posterior reversible encephalopathy syndrome with cerebellar involvement leading to acute hydrocephalus.Clin Neurol Neurosurg. 2018 Sep;172:120-123. doi: 10.1016/j.clineuro.2018.07.005. Epub 2018 Jul 5.
64 Increased NO production in lysinuric protein intolerance.J Inherit Metab Dis. 2005;28(2):123-9. doi: 10.1007/s10545-005-5954-x.
65 Human Na+/H+ exchanger genes : identification of polymorphisms by radiation hybrid mapping and analysis of linkage in end-stage renal disease.Hypertension. 2000 Jan;35(1 Pt 1):135-43. doi: 10.1161/01.hyp.35.1.135.
66 A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.Acta Paediatr. 2011 Dec;100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. Epub 2011 Jun 17.
67 Major-histocompatibility-complex extended haplotypes in membranoproliferative glomerulonephritis.N Engl J Med. 1986 Jun 5;314(23):1476-81. doi: 10.1056/NEJM198606053142303.
68 Effect of quercetin on metallothionein, nitric oxide synthases and cyclooxygenase-2 expression on experimental chronic cadmium nephrotoxicity in rats.Toxicol Appl Pharmacol. 2006 Jan 1;210(1-2):128-35. doi: 10.1016/j.taap.2005.09.006. Epub 2005 Oct 14.
69 A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry.Kidney Int. 2014 Apr;85(4):933-7. doi: 10.1038/ki.2013.348. Epub 2013 Sep 25.
70 Polymorphisms in NADPH oxidase CYBA gene modify the risk of ESRD in patients with chronic glomerulonephritis.Ren Fail. 2016;38(2):262-7. doi: 10.3109/0886022X.2015.1117905. Epub 2015 Dec 1.
71 The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies.Clin Sci (Lond). 2019 Feb 8;133(3):443-447. doi: 10.1042/CS20181067. Print 2019 Feb 14.
72 Hearing impairment and renal failure associated with RMND1 mutations.Am J Med Genet A. 2016 Jan;170A(1):142-7. doi: 10.1002/ajmg.a.37399. Epub 2015 Sep 23.
73 Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report.Pediatr Transplant. 2016 Dec;20(8):1148-1151. doi: 10.1111/petr.12828. Epub 2016 Sep 26.
74 Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.J Am Soc Nephrol. 2006 Sep;17(9):2424-33. doi: 10.1681/ASN.2005121351. Epub 2006 Aug 2.
75 Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.Int J Mol Sci. 2019 Jan 26;20(3):519. doi: 10.3390/ijms20030519.
76 Direct acute tubular damage contributes to Shigatoxin-mediated kidney failure.J Pathol. 2014 Sep;234(1):120-33. doi: 10.1002/path.4388. Epub 2014 Jul 25.
77 Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods.J Transl Med. 2018 Oct 11;16(1):278. doi: 10.1186/s12967-018-1651-z.
78 Mechanism of increases in L-kynurenine and quinolinic acid in renal insufficiency.Am J Physiol Renal Physiol. 2000 Sep;279(3):F565-72. doi: 10.1152/ajprenal.2000.279.3.F565.
79 Podocyte-Specific Deletion of Yes-Associated Protein Causes FSGS and Progressive Renal Failure.J Am Soc Nephrol. 2016 Jan;27(1):216-26. doi: 10.1681/ASN.2014090916. Epub 2015 May 26.
80 Alpha-adducin and angiotensin-converting enzyme polymorphisms in hypertension: evidence for a joint influence on albuminuria.J Hypertens. 2006 May;24(5):931-7. doi: 10.1097/01.hjh.0000222764.92229.6d.
81 Developmental vascular remodeling defects and postnatal kidney failure in mice lacking Gpr116 (Adgrf5) and Eltd1 (Adgrl4).PLoS One. 2017 Aug 14;12(8):e0183166. doi: 10.1371/journal.pone.0183166. eCollection 2017.
82 Extracellular pyrophosphate in the kidney: how does it get there and what does it do?.Nephron Physiol. 2012;120(4):p33-8. doi: 10.1159/000341597. Epub 2012 Oct 12.
83 Function of aquaporins in sepsis: a systematic review.Cell Biosci. 2018 Feb 9;8:10. doi: 10.1186/s13578-018-0211-9. eCollection 2018.
84 Preserved regulation of renal perfusion pressure by small and intermediate conductance KCa channels in hypertensive mice with or without renal failure.Pflugers Arch. 2015 Apr;467(4):817-31. doi: 10.1007/s00424-014-1542-y. Epub 2014 Jun 7.
85 Rat liver and kidney post-mitochondrial dysfunction by addition of chronic mixed metal intoxication and hepatorenal wellness mediated by phenolic components from Croton zambiscus leaves.Environ Toxicol Pharmacol. 2020 Feb;74:103293. doi: 10.1016/j.etap.2019.103293. Epub 2019 Nov 9.
86 Congenital urinary tract obstruction.Best Pract Res Clin Obstet Gynaecol. 2019 Jul;58:78-92. doi: 10.1016/j.bpobgyn.2019.01.003. Epub 2019 Jan 11.
87 Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.
88 Pneumocystis jirovecii pneumonia (PCP) PCR-negative conversion predicts prognosis of HIV-negative patients with PCP and acute respiratory failure.PLoS One. 2018 Oct 25;13(10):e0206231. doi: 10.1371/journal.pone.0206231. eCollection 2018.
89 A randomized trial of everolimus-based quadruple therapy vs standard triple therapy early after lung transplantation.Am J Transplant. 2019 Jun;19(6):1759-1769. doi: 10.1111/ajt.15251. Epub 2019 Feb 5.
90 Nicorandil attenuates neuronal mitochondrial dysfunction and oxidative stress associated with murine model of vascular calcification.Acta Neurobiol Exp (Wars). 2017;77(1):57-67. doi: 10.21307/ane-2017-036.
91 Inhibition of SHIP2 in CD2AP-deficient podocytes ameliorates reactive oxygen species generation but aggravates apoptosis.Sci Rep. 2017 Sep 6;7(1):10731. doi: 10.1038/s41598-017-10512-w.
92 AIM associated with the IgM pentamer: attackers on stand-by at aircraft carrier.Cell Mol Immunol. 2018 Jun;15(6):563-574. doi: 10.1038/cmi.2017.141. Epub 2018 Jan 29.
93 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.Hum Mol Genet. 2006 Apr 1;15(7):1049-58. doi: 10.1093/hmg/ddl020. Epub 2006 Feb 24.
94 Monoclonal Antibody RYSK173 Recognizes the Dinuclear Zn Center of Serum Carnosinase 1 (CN-1): Possible Consequences of Zn Binding for CN-1 Recognition by RYSK173.PLoS One. 2016 Jan 22;11(1):e0146831. doi: 10.1371/journal.pone.0146831. eCollection 2016.
95 Hydroxypropyl--cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.Kidney Int. 2018 Dec;94(6):1151-1159. doi: 10.1016/j.kint.2018.06.031. Epub 2018 Oct 6.
96 X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.
97 Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.Clin J Am Soc Nephrol. 2010 Jan;5(1):34-8. doi: 10.2215/CJN.01030209. Epub 2009 Dec 3.
98 Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.J Clin Invest. 1995 Apr;95(4):1832-7. doi: 10.1172/JCI117862.
99 Early-onset of ADCK4 glomerulopathy with renal failure: a case report.BMC Med Genet. 2017 Mar 16;18(1):28. doi: 10.1186/s12881-017-0392-9.
100 Predicted 10-year risk of cardiovascular mortality in the 40 to 69 year old general population without cardiovascular diseases in Germany.PLoS One. 2018 Jan 2;13(1):e0190441. doi: 10.1371/journal.pone.0190441. eCollection 2018.
101 A post-partum hemolytic-uremic-like-syndrome in a patient with pre-eclampsia: description of a clinical case.Transfus Apher Sci. 2006 Feb;34(1):11-4. doi: 10.1016/j.transci.2005.09.007. Epub 2006 Jan 20.
102 Complement mutations in diacylglycerol kinase--associated atypical hemolytic uremic syndrome.Clin J Am Soc Nephrol. 2014 Sep 5;9(9):1611-9. doi: 10.2215/CJN.01640214. Epub 2014 Aug 18.
103 The relationship of renal function to segmental vascular stiffness, ankle-brachial index, and peripheral artery disease.J Clin Hypertens (Greenwich). 2018 Jun;20(6):1027-1035. doi: 10.1111/jch.13297. Epub 2018 May 11.
104 Discs-large homolog 1 regulates smooth muscle orientation in the mouse ureter.Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19872-7. doi: 10.1073/pnas.0609326103. Epub 2006 Dec 15.
105 Renal outcomes with dipeptidyl peptidase-4 inhibitors.Diabetes Metab. 2018 Mar;44(2):101-111. doi: 10.1016/j.diabet.2017.07.011. Epub 2017 Nov 13.
106 Evaluation of markers on human chromosome 10, including the homologue of the rodent Rf-1 gene, for linkage to ESRD in black patients.Am J Kidney Dis. 1999 Feb;33(2):294-300. doi: 10.1016/s0272-6386(99)70303-3.
107 Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.J Hum Genet. 2018 May;63(5):647-656. doi: 10.1038/s10038-018-0429-8. Epub 2018 Mar 2.
108 eIF3-f function in skeletal muscles: to stand at the crossroads of atrophy and hypertrophy.Cell Cycle. 2008 Jun 15;7(12):1698-701. doi: 10.4161/cc.7.12.6090. Epub 2008 Jun 11.
109 Kindlin-2 Association with Rho GDP-Dissociation Inhibitor Suppresses Rac1 Activation and Podocyte Injury.J Am Soc Nephrol. 2017 Dec;28(12):3545-3562. doi: 10.1681/ASN.2016091021. Epub 2017 Aug 3.
110 Four-jointed knock-out delays renal failure in an ADPKD model with kidney injury.J Pathol. 2019 Sep;249(1):114-125. doi: 10.1002/path.5286. Epub 2019 Jun 17.
111 Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans.PLoS Genet. 2011 Jun;7(6):e1002150. doi: 10.1371/journal.pgen.1002150. Epub 2011 Jun 16.
112 GDF11 induces kidney fibrosis, renal cell epithelial-to-mesenchymal transition, and kidney dysfunction and failure.Surgery. 2018 Aug;164(2):262-273. doi: 10.1016/j.surg.2018.03.008. Epub 2018 May 3.
113 Kruppel-like zinc finger protein Glis2 is essential for the maintenance of normal renal functions.Mol Cell Biol. 2008 Apr;28(7):2358-67. doi: 10.1128/MCB.01722-07. Epub 2008 Jan 28.
114 Identification of 10-kDa proguanylin as a major guanylin molecule in human intestine and plasma and its increase in renal insufficiency.Biochem Biophys Res Commun. 1994 Dec 30;205(3):1966-75. doi: 10.1006/bbrc.1994.2901.
115 Erythropoietin in the general population: reference ranges and clinical, biochemical and genetic correlates.PLoS One. 2015 Apr 27;10(4):e0125215. doi: 10.1371/journal.pone.0125215. eCollection 2015.
116 Hypercalcemia in childhood acute lymphoblastic leukemia: frequent implication of parathyroid hormone-related peptide and E2A-HLF from translocation 17;19.Leukemia. 2007 Feb;21(2):288-96. doi: 10.1038/sj.leu.2404496. Epub 2006 Dec 21.
117 A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.J Inherit Metab Dis. 2016 Nov;39(6):807-820. doi: 10.1007/s10545-016-9960-y. Epub 2016 Jul 28.
118 Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin.BMC Med Genet. 2016 Oct 12;17(1):73. doi: 10.1186/s12881-016-0336-9.
119 Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant. 2006 Jul;21(7):1989-91. doi: 10.1093/ndt/gfl088. Epub 2006 Mar 7.
120 IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221.
121 Common charge-shift mutation Glu65Lys in K+ channel ?Subunit KCNMB1: pleiotropic consequences for glomerular filtration rate and progressive renal disease.Am J Nephrol. 2010;32(5):414-24. doi: 10.1159/000320131. Epub 2010 Sep 23.
122 Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.Hum Mol Genet. 2008 Jun 1;17(11):1578-90. doi: 10.1093/hmg/ddn045. Epub 2008 Feb 9.
123 Are killer cell immunoglobulin-like receptor genes important for the prediction of kidney graft rejection?.Arch Immunol Ther Exp (Warsz). 2013 Aug;61(4):321-5. doi: 10.1007/s00005-013-0225-2. Epub 2013 Apr 4.
124 A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.
125 Role of Klotho in bone and implication for CKD.Curr Opin Nephrol Hypertens. 2018 Jul;27(4):298-304. doi: 10.1097/MNH.0000000000000423.
126 Glomerular basement membrane and related glomerular disease.Transl Res. 2012 Oct;160(4):291-7. doi: 10.1016/j.trsl.2012.03.004. Epub 2012 Apr 10.
127 Pathogenicity of a Human Laminin 2 Mutation Revealed in Models of Alport Syndrome.J Am Soc Nephrol. 2018 Mar;29(3):949-960. doi: 10.1681/ASN.2017090997. Epub 2017 Dec 20.
128 LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.Nephrol Dial Transplant. 2014 Jan;29(1):81-8. doi: 10.1093/ndt/gft359. Epub 2013 Sep 15.
129 Impact of polymyxin-B-associated acute kidney injury in 1-year mortality and renal function recovery.Int J Antimicrob Agents. 2018 Jul;52(1):86-89. doi: 10.1016/j.ijantimicag.2018.02.016. Epub 2018 Mar 2.
130 Defects in MAP1S-mediated autophagy turnover of fibronectin cause renal fibrosis.Aging (Albany NY). 2016 May;8(5):977-85. doi: 10.18632/aging.100957.
131 Factors involved in initiation and regulation of complement lectin pathway influence postoperative outcome after pediatric cardiac surgery involving cardiopulmonary bypass.Sci Rep. 2019 Feb 27;9(1):2930. doi: 10.1038/s41598-019-39742-w.
132 SYM1 is the stress-induced Saccharomyces cerevisiae ortholog of the mammalian kidney disease gene Mpv17 and is required for ethanol metabolism and tolerance during heat shock.Eukaryot Cell. 2004 Jun;3(3):620-31. doi: 10.1128/EC.3.3.620-631.2004.
133 Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.
134 Augmentation of phosphate-induced osteo-/chondrogenic transformation of vascular smooth muscle cells by homoarginine.Cardiovasc Res. 2016 Jun 1;110(3):408-18. doi: 10.1093/cvr/cvw062. Epub 2016 Mar 21.
135 Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.Haemophilia. 2017 Sep;23(5):673-681. doi: 10.1111/hae.13255. Epub 2017 Jun 8.
136 Treatment of renal failure associated with multiple myeloma and other diseases by PACAP-38.Ann N Y Acad Sci. 2006 Jul;1070:1-4. doi: 10.1196/annals.1317.093.
137 Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fr Pdiatrische Nephrologie.Kidney Int. 1997 Jan;51(1):261-9. doi: 10.1038/ki.1997.31.
138 Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.PLoS One. 2011;6(8):e24044. doi: 10.1371/journal.pone.0024044. Epub 2011 Aug 25.
139 PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.Clin Genet. 2011 Dec;80(6):581-5. doi: 10.1111/j.1399-0004.2010.01588.x. Epub 2010 Nov 25.
140 Differential regulation of PHEX expression in bone and parathyroid gland by chronic renal insufficiency and 1,25-dihydroxyvitamin D3.Am J Physiol Renal Physiol. 2004 Apr;286(4):F739-48. doi: 10.1152/ajprenal.00321.2003. Epub 2003 Dec 23.
141 Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency.Sci Rep. 2018 Sep 20;8(1):14133. doi: 10.1038/s41598-018-32389-z.
142 Pkd1-targeted mutation reveals a role for the Wolffian duct in autosomal dominant polycystic kidney disease.J Dev Orig Health Dis. 2020 Feb;11(1):78-85. doi: 10.1017/S2040174419000436. Epub 2019 Aug 15.
143 Autosomal Dominant Polycystic Kidney Disease: A Path Forward.Semin Nephrol. 2015 Nov;35(6):524-37. doi: 10.1016/j.semnephrol.2015.10.002.
144 Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.J Clin Invest. 2004 Mar;113(6):814-25. doi: 10.1172/JCI20083.
145 High-fat diet-induced renal cell apoptosis and oxidative stress in spontaneously hypertensive rat are ameliorated by fenofibrate through the PPAR-FoxO3a-PGC-1 pathway.Nephrol Dial Transplant. 2012 Jun;27(6):2213-25. doi: 10.1093/ndt/gfr613. Epub 2011 Nov 9.
146 Discriminatory power of scoring systems for outcome prediction in patients with extracorporeal membrane oxygenation following cardiovascular surgery?"Schrutka L. Binder C
147 Performance of GFR Slope as a Surrogate End Point for Kidney Disease Progression in Clinical Trials: A Statistical Simulation.J Am Soc Nephrol. 2019 Sep;30(9):1756-1769. doi: 10.1681/ASN.2019010009. Epub 2019 Jul 10.
148 The potential role of regucalcin in kidney cell regulation: Involvement in renal failure (Review).Int J Mol Med. 2015 Nov;36(5):1191-9. doi: 10.3892/ijmm.2015.2343. Epub 2015 Sep 11.
149 Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.Exp Mol Med. 2018 Jun 28;50(6):1-17. doi: 10.1038/s12276-018-0108-z.
150 Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?.Am J Med Genet A. 2007 Nov 1;143A(21):2588-91. doi: 10.1002/ajmg.a.31699.
151 Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.Am J Med Genet. 2001 Nov 15;104(1):31-6. doi: 10.1002/ajmg.10016.
152 CoQ(10) supplementation rescues nephrotic syndrome through normalization of H(2)S oxidation pathway.Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6.
153 Development of renal failure in PargParp-1 null and Timm23 hypomorphic mice.Biochem Pharmacol. 2019 Sep;167:116-124. doi: 10.1016/j.bcp.2019.07.003. Epub 2019 Jul 19.
154 Cognitive, emotional and social phenotyping of mice in an observer-independent setting.Neurobiol Learn Mem. 2018 Apr;150:136-150. doi: 10.1016/j.nlm.2018.02.023. Epub 2018 Feb 21.
155 Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2015 Apr;87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16.