Details of Disease

General Information of Disease (ID: DISJNHH0)

Disease Name	Focal segmental glomerulosclerosis
Synonyms	FGS (focal glomerular sclerosis); FSGS; focal glomerulosclerosis; focal glomerular sclerosis; FGS; FSGS - focal segmental glomerulosclerosis
Disease Class	MF8Y: Urinary system clinical sympton
Definition	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
Disease Hierarchy	DISJF20Z: Glomerulosclerosis DISJNHH0: Focal segmental glomerulosclerosis
ICD Code	ICD-11 ICD-11: MF8Y Expand ICD-11 'MF8Y
Disease Identifiers	MONDO ID MONDO_0100313 MESH ID D005923 UMLS CUI C0017668 MedGen ID 4904 HPO ID HP:0000097 SNOMED CT ID 236403004

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
Sparsentan	DMMP51W	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CXA10	DMM7Z6K	Phase 2	Small molecular drug	[2]
PF-06730512	DM2VJ1U	Phase 2	Fusion protein	[3]
example 98 (WO2011020806)	DM2N653	Clinical trial	Small molecular drug	[4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 30 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CCN2	TTIL516	Limited	Biomarker	[5]
E2F3	TTWIJYH	Limited	Biomarker	[6]
EDN1	TTJR60Z	Limited	Altered Expression	[7]
FN1	TTPJ921	Limited	Biomarker	[8]
GNAQ	TTL1SRG	Limited	Biomarker	[9]
MLYCD	TT9Z4YD	Limited	Biomarker	[10]
NOS2	TTF10I9	Limited	Genetic Variation	[11]
PCNA	TTLG1PD	Limited	Biomarker	[12]
SPP1	TT8ME6I	Limited	Biomarker	[13]
PLA2R1	TTHKW7D	moderate	Genetic Variation	[14]
TRPC5	TT32NQ1	moderate	Biomarker	[15]
TYRP1	TTFRV98	moderate	Genetic Variation	[16]
AGTR2	TTQVOEI	Strong	Biomarker	[17]
ANGPT2	TTKLQTJ	Strong	Biomarker	[18]
C3AR1	TTI6B3F	Strong	Biomarker	[19]
CASP9	TTB6T7O	Strong	Therapeutic	[20]
CLCNKB	TTR68GQ	Strong	Genetic Variation	[21]
CUBN	TT9YLCR	Strong	Genetic Variation	[22]
DMPK	TTZQTY2	Strong	Altered Expression	[23]
LPL	TTOF3WZ	Strong	Biomarker	[24]
MANF	TT56RYE	Strong	Biomarker	[25]
MMP2	TTLM12X	Strong	Biomarker	[26]
NAGLU	TTDM6HZ	Strong	Biomarker	[27]
REN	TTB2MXP	Strong	Biomarker	[28]
SERPINE1	TTTO43N	Strong	Therapeutic	[29]
SGPL1	TT618Q2	Strong	Biomarker	[30]
SIRPA	TTBRJS9	Strong	Altered Expression	[31]
SLC12A1	TTS087L	Strong	Genetic Variation	[32]
TRPC6	TTRBT3W	Strong	Genetic Variation	[33]
WT1	TTZ8UT4	Strong	Genetic Variation	[34]
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⏷ Show the Full List of 30 DTT(s)

This Disease Is Related to 74 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA2	OTEDLG8E	Limited	Biomarker	[35]
ARHGAP24	OTCQCEZS	Limited	Biomarker	[36]
CAMK4	OT47RDGV	Limited	Biomarker	[37]
COL4A1	OTL6D1YE	Limited	Biomarker	[38]
COQ6	OTZWW1FX	Limited	Genetic Variation	[39]
CRB2	OTG0L2CE	Limited	Biomarker	[40]
HAVCR1	OT184CRZ	Limited	Biomarker	[41]
LMNA	OT3SG7ZR	Limited	Biomarker	[42]
MYH10	OTXN2WXS	Limited	Biomarker	[43]
NEFH	OTMSCW5I	Limited	Altered Expression	[44]
NPNT	OTFZAO1G	Limited	Altered Expression	[45]
PDLIM2	OTEURRPD	Limited	Altered Expression	[46]
MYO1E	OTM9YSIZ	moderate	Genetic Variation	[47]
PODXL	OTPNQXF3	moderate	Genetic Variation	[48]
TBC1D8B	OTSYGOXH	moderate	Biomarker	[49]
TBPL1	OT4I143E	moderate	Genetic Variation	[16]
ACTN4	OTCNZAJ5	Strong	Genetic Variation	[50]
ACTR3	OT05LJSH	Strong	Biomarker	[51]
ADA2	OTGCV24S	Strong	Biomarker	[52]
ANK3	OTJ3IRBP	Strong	Genetic Variation	[53]
ANLN	OTXJY54C	Strong	Biomarker	[54]
ATL1	OTR2788Y	Strong	Biomarker	[55]
C1QL1	OTNQ0G3E	Strong	Genetic Variation	[56]
CASK	OT8EF7ZF	Strong	Biomarker	[57]
CD2AP	OTC76KQM	Strong	Genetic Variation	[58]
CHP1	OTHTXN1A	Strong	Biomarker	[59]
CNKSR3	OTXP4QH8	Strong	Genetic Variation	[60]
COL4A5	OTHG60RE	Strong	Biomarker	[61]
COL8A1	OTWBTED2	Strong	Altered Expression	[62]
COL8A2	OTASWJ69	Strong	Altered Expression	[62]
COQ8B	OTBY50BD	Strong	Biomarker	[63]
COX10	OTCYIS0L	Strong	Genetic Variation	[64]
DDN	OTM52ZF5	Strong	Altered Expression	[65]
DERL2	OTI3TUUZ	Strong	Altered Expression	[66]
ECT2	OTQDUCT6	Strong	Genetic Variation	[67]
EYA1	OTHU807A	Strong	Genetic Variation	[68]
INF2	OT8ZM13C	Strong	Genetic Variation	[69]
ITGA3	OTBCH21D	Strong	Altered Expression	[70]
KIRREL1	OTOA7ON7	Strong	Biomarker	[71]
LAMA5	OTIIXE4M	Strong	Genetic Variation	[72]
LAMB2	OT71OI2Y	Strong	Genetic Variation	[73]
LIPC	OTZY5SC9	Strong	Biomarker	[24]
LMX1B	OTM8145D	Strong	Genetic Variation	[74]
MAFB	OTH2N3T8	Strong	Genetic Variation	[75]
MAGI1	OTMV4ASV	Strong	Genetic Variation	[60]
MPV17	OT579DMU	Strong	Genetic Variation	[76]
MYH1	OT8YBDOT	Strong	Genetic Variation	[47]
NBAS	OTW9IBRI	Strong	Biomarker	[27]
NPHP1	OTZHCFFQ	Strong	Genetic Variation	[77]
NPHP4	OTBNOA7U	Strong	Genetic Variation	[78]
NUP107	OTG4RDYS	Strong	Genetic Variation	[79]
PDLIM1	OT4EGCPG	Strong	Genetic Variation	[80]
PDSS2	OTEOQBMX	Strong	Genetic Variation	[81]
PIAS1	OTZVAHZI	Strong	Biomarker	[82]
PKD2	OTIXBU8H	Strong	Biomarker	[83]
PLCE1	OTJISZOX	Strong	Genetic Variation	[84]
PLEKHH2	OT3TK3NN	Strong	Altered Expression	[85]
PLXNA3	OTMZIBVG	Strong	Biomarker	[86]
PTPRO	OTFLKWOY	Strong	Biomarker	[87]
RAP1GAP	OTC31ONQ	Strong	Altered Expression	[88]
RHOV	OTW4N3QN	Strong	Biomarker	[59]
RPL10A	OTDLCJ53	Strong	Genetic Variation	[23]
RPL23	OTXI1YLM	Strong	Altered Expression	[89]
SCN7A	OTK05PXY	Strong	Biomarker	[27]
SDK1	OTX26906	Strong	Altered Expression	[60]
SMARCAL1	OTTKXLUZ	Strong	Genetic Variation	[90]
SMPDL3B	OTZ3KNFJ	Strong	Altered Expression	[91]
SNRPB	OT3UJ4ZU	Strong	Biomarker	[92]
SNX9	OTLNQ0ZM	Strong	Altered Expression	[93]
STRIP1	OTCJ4CVE	Strong	Biomarker	[94]
SYNPO	OTICDJAB	Strong	Altered Expression	[95]
THSD7A	OT7249HH	Strong	Biomarker	[96]
TMEM63C	OTKDX01I	Strong	Biomarker	[97]
TTC21B	OTXXA87U	Strong	Genetic Variation	[98]
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⏷ Show the Full List of 74 DOT(s)

References

1	ClinicalTrials.gov (NCT03493685) Study of Sparsentan in Patients With Primary Focal Segmental Glomerulosclerosis (FSGS) (DUPLEX). U.S. National Institutes of Health.
2	ClinicalTrials.gov (NCT03422510) FIRSTx - A Study of Oral CXA-10 in Primary Focal Segmental Glomerulosclerosis (FSGS). U.S. National Institutes of Health.
3	ClinicalTrials.gov (NCT03448692) A PHASE 2, 24-WEEK, ADAPTIVE, OPEN LABEL, SEQUENTIAL COHORT TRIAL TO EVALUATE THE EFFICACY, SAFETY, TOLERABILITY AND PHARMACOKINETICS OF PF-06730512 FOLLOWING MULTIPLE DOSES IN ADULT SUBJECTS WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS). U.S.National Institutes of Health.
4	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: 6540).
5	Connective tissue growth factor modulates podocyte actin cytoskeleton and extracellular matrix synthesis and is induced in podocytes upon injury.Histochem Cell Biol. 2011 Sep;136(3):301-19. doi: 10.1007/s00418-011-0844-9. Epub 2011 Aug 4.
6	Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p.Tohoku J Exp Med. 2011 Mar;223(3):187-92. doi: 10.1620/tjem.223.187.
7	Endothelin receptor-A mediates degradation of the glomerular endothelial surface layer via pathologic crosstalk between activated podocytes and glomerular endothelial cells.Kidney Int. 2019 Oct;96(4):957-970. doi: 10.1016/j.kint.2019.05.007. Epub 2019 May 22.
8	Protective effects of blocking renin-angiotensin system on the progression of renal injury in glomerulosclerosis.Cell Mol Immunol. 2005 Apr;2(2):150-4.
9	Activation of Galpha q-coupled signaling pathways in glomerular podocytes promotes renal injury.J Am Soc Nephrol. 2005 Dec;16(12):3611-22. doi: 10.1681/ASN.2005020167. Epub 2005 Nov 2.
10	CD20-positive infiltrates in human membranous glomerulonephritis.J Nephrol. 2005 May-Jun;18(3):328-33.
11	Delayed diagnosis of acromegaly in a patient with focal segmental Glomerulosclerosis: a rare case report and literature review.BMC Nephrol. 2019 Nov 27;20(1):435. doi: 10.1186/s12882-019-1626-1.
12	[Effects of yishen huoxue decoction on proliferating cell nuclear antigen expression and extracellular matrix in 5/6 nephrectomized rats].Zhongguo Zhong Xi Yi Jie He Za Zhi. 2006 Oct;26(10):903-8.
13	Osteopontin in chronic puromycin aminonucleoside nephrosis.J Am Soc Nephrol. 1997 Sep;8(9):1383-90. doi: 10.1681/ASN.V891383.
14	Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.Nephrol Dial Transplant. 2017 Feb 1;32(2):325-332. doi: 10.1093/ndt/gfw001. Epub 2016 Feb 4.
15	Discovery of a Potent and Selective TRPC5 Inhibitor, Efficacious in a Focal Segmental Glomerulosclerosis Model.ACS Med Chem Lett. 2019 Oct 22;10(11):1579-1585. doi: 10.1021/acsmedchemlett.9b00430. eCollection 2019 Nov 14.
16	TRPC6 and FSGS: the latest TRP channelopathy.Biochim Biophys Acta. 2007 Aug;1772(8):859-68. doi: 10.1016/j.bbadis.2007.03.005. Epub 2007 Mar 20.
17	Role of intrarenal angiotensin system activation, oxidative stress, inflammation, and impaired nuclear factor-erythroid-2-related factor 2 activity in the progression of focal glomerulosclerosis.J Pharmacol Exp Ther. 2011 Jun;337(3):583-90. doi: 10.1124/jpet.110.175828. Epub 2011 Feb 25.
18	Effects of angiogenic factor overexpression by human and rodent cholangiocytes in polycystic liver diseases.Hepatology. 2006 May;43(5):1001-12. doi: 10.1002/hep.21143.
19	Resveratrol Attenuates Adriamycin-Induced Focal Segmental Glomerulosclerosis through C3aR/C5aR- Sphingosine Kinase 1 Pathway.Pharmacology. 2017;100(5-6):253-260. doi: 10.1159/000479525. Epub 2017 Aug 11.
20	Role of Protease-Activated Receptor 2 in Regulating Focal Segmental Glomerulosclerosis.Cell Physiol Biochem. 2017;41(3):1147-1155. doi: 10.1159/000464121. Epub 2017 Feb 28.
21	A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.BMC Med Genet. 2019 Aug 13;20(1):137. doi: 10.1186/s12881-019-0869-9.
22	Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937.
23	Discovery of new glomerular disease-relevant genes by translational profiling of podocytes in vivo.Kidney Int. 2014 Dec;86(6):1116-29. doi: 10.1038/ki.2014.204. Epub 2014 Jun 18.
24	Protein restriction and AST-120 improve lipoprotein lipase and VLDL receptor in focal glomerulosclerosis.Kidney Int. 2003 Nov;64(5):1780-6. doi: 10.1046/j.1523-1755.2003.00281.x.
25	Discovery of endoplasmic reticulum calcium stabilizers to rescue ER-stressed podocytes in nephrotic syndrome.Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):14154-14163. doi: 10.1073/pnas.1813580116. Epub 2019 Jun 24.
26	Effect of all-trans retinoic acid on renal expressions of matrix metalloproteinase-2, matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-1 in rats with glomerulosclerosis.Pediatr Nephrol. 2009 Aug;24(8):1477-86. doi: 10.1007/s00467-009-1166-1. Epub 2009 Apr 9.
27	Clinical Significance of Urinary Biomarkers in Patients With Primary Focal Segmental Glomerulosclerosis.Am J Med Sci. 2018 Apr;355(4):314-321. doi: 10.1016/j.amjms.2017.12.019. Epub 2017 Dec 30.
28	CCR2 antagonism leads to marked reduction in proteinuria and glomerular injury in murine models of focal segmental glomerulosclerosis (FSGS).PLoS One. 2018 Mar 21;13(3):e0192405. doi: 10.1371/journal.pone.0192405. eCollection 2018.
29	[Effects of Shensu II Recipe on the expressions of transforming growth factor-beta1, and plasminogen activator inhibitor-1 in the focal segmental glomerulosclerosis rats].Zhongguo Zhong Xi Yi Jie He Za Zhi. 2011 Nov;31(11):1531-7.
30	Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.
31	Signal regulatory protein protects podocytes through promoting autophagic activity.JCI Insight. 2019 Mar 19;5(9):e124747. doi: 10.1172/jci.insight.124747.
32	Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis.Pediatr Nephrol. 2009 Feb;24(2):415-8. doi: 10.1007/s00467-008-0999-3. Epub 2008 Oct 2.
33	Participation of the AngII/TRPC6/NFAT axis in the pathogenesis of podocyte injury in rats with type 2 diabetes.Mol Med Rep. 2019 Mar;19(3):2421-2430. doi: 10.3892/mmr.2019.9871. Epub 2019 Jan 17.
34	Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.Indian J Med Res. 2016 Aug;144(2):276-280. doi: 10.4103/0971-5916.195044.
35	Beneficial effect of all-trans retinoic acid (ATRA) on glomerulosclerosis rats via the down-regulation of the expression of alpha-smooth muscle actin: a comparative study between ATRA and benazepril.Exp Mol Pathol. 2010 Aug;89(1):51-7. doi: 10.1016/j.yexmp.2010.05.003. Epub 2010 May 21.
36	Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest. 2011 Oct;121(10):4127-37. doi: 10.1172/JCI46458. Epub 2011 Sep 12.
37	Calcium/Calmodulin Kinase IV Controls the Function of Both T Cells and Kidney Resident Cells.Front Immunol. 2018 Oct 1;9:2113. doi: 10.3389/fimmu.2018.02113. eCollection 2018.
38	Effect of eplerenone, enalapril and their combination treatment on diabetic nephropathy in type II diabetic rats.Nephrol Dial Transplant. 2009 Jan;24(1):73-84. doi: 10.1093/ndt/gfn448. Epub 2008 Aug 5.
39	New Mutation of Coenzyme Q(10) Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient.Chin Med J (Engl). 2018 Nov 20;131(22):2666-2675. doi: 10.4103/0366-6999.245158.
40	Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.Nephrology (Carlton). 2018 Jul;23(7):697-702. doi: 10.1111/nep.13244.
41	Reduction of proteinuria in adriamycin-induced nephropathy is associated with reduction of renal kidney injury molecule (Kim-1) over time.Am J Physiol Renal Physiol. 2009 May;296(5):F1136-45. doi: 10.1152/ajprenal.00541.2007. Epub 2009 Feb 18.
42	Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.Nephron Clin Pract. 2013;124(1-2):31-7. doi: 10.1159/000354716. Epub 2013 Sep 26.
43	Glomerular nonmuscle-type myosin heavy-chain isoform gene expression in glomerulosclerosis.Nephron. 1998;79(3):317-21. doi: 10.1159/000045056.
44	Neurofilament heavy polypeptide protects against reduction in synaptopodin expression and prevents podocyte detachment.Sci Rep. 2018 Nov 21;8(1):17157. doi: 10.1038/s41598-018-35465-6.
45	Podocytes regulate the glomerular basement membrane protein nephronectin by means ofmiR-378a-3p in glomerular diseases.Kidney Int. 2017 Oct;92(4):836-849. doi: 10.1016/j.kint.2017.03.005. Epub 2017 May 3.
46	Pdlim2 is a novel actin-regulating protein of podocyte foot processes.Kidney Int. 2011 Nov;80(10):1045-54. doi: 10.1038/ki.2011.231. Epub 2011 Aug 3.
47	Effects of FSGS-associated mutations on the stability and function of myosin-1 in fission yeast.Dis Model Mech. 2015 Aug 1;8(8):891-902. doi: 10.1242/dmm.020214. Epub 2015 Jun 18.
48	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.
49	TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.
50	Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations.Sci Rep. 2019 Oct 29;9(1):15517. doi: 10.1038/s41598-019-51825-2.
51	Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics.Am J Nephrol. 2016;43(6):441-50. doi: 10.1159/000446859. Epub 2016 Jun 2.
52	Recent advances of animal model of focal segmental glomerulosclerosis.Clin Exp Nephrol. 2018 Aug;22(4):752-763. doi: 10.1007/s10157-018-1552-8. Epub 2018 Mar 20.
53	New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4.
54	ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs.PLoS Genet. 2017 Feb 21;13(2):e1006625. doi: 10.1371/journal.pgen.1006625. eCollection 2017 Feb.
55	Clinical significance of fibroblast-specific protein-1 expression on podocytes in patients with focal segmental glomerulosclerosis.Nephron Clin Pract. 2012;120(1):c1-7. doi: 10.1159/000334184. Epub 2011 Nov 23.
56	Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8.
57	Circulating CASK is associated with recurrent focal segmental glomerulosclerosis after transplantation.PLoS One. 2019 Jul 29;14(7):e0219353. doi: 10.1371/journal.pone.0219353. eCollection 2019.
58	Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.Kidney Int. 2019 Jan;95(1):57-61. doi: 10.1016/j.kint.2018.08.014. Epub 2018 Oct 26.
59	Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.J Am Soc Nephrol. 2003 Jul;14(7):1794-803. doi: 10.1097/01.asn.0000071513.73427.97.
60	Up-regulation of the homophilic adhesion molecule sidekick-1 in podocytes contributes to glomerulosclerosis.J Biol Chem. 2010 Aug 13;285(33):25677-85. doi: 10.1074/jbc.M110.133959. Epub 2010 Jun 18.
61	Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.Pediatr Nephrol. 2020 Jun;35(6):927-936. doi: 10.1007/s00467-019-04282-y. Epub 2019 Jun 28.
62	Collagen type VIII expression in human diabetic nephropathy.Eur J Clin Invest. 2007 Oct;37(10):767-73. doi: 10.1111/j.1365-2362.2007.01864.x.
63	Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.Pediatr Nephrol. 2017 Sep;32(9):1547-1554. doi: 10.1007/s00467-017-3657-9. Epub 2017 Apr 12.
64	Deletion of the Mitochondrial Complex-IV Cofactor Heme A:Farnesyltransferase Causes Focal Segmental Glomerulosclerosis and Interferon Response.Am J Pathol. 2018 Dec;188(12):2745-2762. doi: 10.1016/j.ajpath.2018.08.018. Epub 2018 Sep 28.
65	Expression of DENDRIN in several glomerular diseases and correlation to pathological parameters and renal failure - preliminary study.Diagn Pathol. 2018 Nov 20;13(1):90. doi: 10.1186/s13000-018-0767-z.
66	Podocytes exhibit a specialized protein quality control employing derlin-2 in kidney disease.Am J Physiol Renal Physiol. 2018 Mar 1;314(3):F471-F482. doi: 10.1152/ajprenal.00691.2016. Epub 2017 Nov 22.
67	Nonfunction of the ECT2 gene may cause renal tubulointerstitial injury leading to focal segmental glomerulosclerosis.Clin Exp Nephrol. 2012 Dec;16(6):875-82. doi: 10.1007/s10157-012-0636-0. Epub 2012 May 3.
68	Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.BMC Nephrol. 2013 Mar 18;14:60. doi: 10.1186/1471-2369-14-60.
69	A complex containing lysine-acetylated actin inhibits the formin INF2.Nat Cell Biol. 2019 May;21(5):592-602. doi: 10.1038/s41556-019-0307-4. Epub 2019 Apr 8.
70	Reduced podocyte expression of alpha3beta1 integrins and podocyte depletion in patients with primary focal segmental glomerulosclerosis and chronic PAN-treated rats.J Lab Clin Med. 2006 Feb;147(2):74-82. doi: 10.1016/j.lab.2005.08.011.
71	Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin.J Clin Invest. 2006 May;116(5):1337-45. doi: 10.1172/JCI27400. Epub 2006 Apr 20.
72	COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?.BMC Nephrol. 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5.
73	Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Bosn J Basic Med Sci. 2014 May;14(2):89-93. doi: 10.17305/bjbms.2014.2270.
74	Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.Sci Rep. 2017 Jan 6;7:39933. doi: 10.1038/srep39933.
75	A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.Kidney Int. 2018 Aug;94(2):396-407. doi: 10.1016/j.kint.2018.02.025. Epub 2018 May 18.
76	Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24.
77	Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.Am J Kidney Dis. 2011 Aug;58(2):186-95. doi: 10.1053/j.ajkd.2011.01.025. Epub 2011 Jun 12.
78	Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.Am J Kidney Dis. 2007 Nov;50(5):855-64. doi: 10.1053/j.ajkd.2007.08.009.
79	NUP107 mutations in children with steroid-resistant nephrotic syndrome.Nephrol Dial Transplant. 2017 Jun 1;32(6):1013-1017. doi: 10.1093/ndt/gfw103.
80	Alpha-actinin-4 and CLP36 protein deficiencies contribute to podocyte defects in multiple human glomerulopathies.J Biol Chem. 2011 Sep 2;286(35):30795-30805. doi: 10.1074/jbc.M111.255984. Epub 2011 Jun 16.
81	Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.Am J Physiol Renal Physiol. 2013 Oct 15;305(8):F1228-38. doi: 10.1152/ajprenal.00143.2013. Epub 2013 Aug 7.
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