General Information of Disease (ID: DISSPSC2)

Disease Name Nephrotic syndrome
Synonyms nephrosis; nephrotic syndromes; syndrome, nephrotic; nephrotic syndrome; syndromes, nephrotic
Definition A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
Disease Hierarchy
DIS6SVEE: Syndromic disease
:
DISSPSC2: Nephrotic syndrome
Disease Identifiers
MONDO ID
MONDO_0005377
MESH ID
D009404
UMLS CUI
C0027726
MedGen ID
10308
HPO ID
HP:0000100
SNOMED CT ID
52254009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 55 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADA TTLP57V Limited Altered Expression [1]
APOA1 TT5S8DR Limited Altered Expression [2]
C3 TTJGY7A Limited Biomarker [3]
GSN TTUH7OM Limited Genetic Variation [4]
IL7R TTAWI51 Limited Biomarker [5]
NLRP3 TT4EN8X Limited Biomarker [6]
SERPINE1 TTTO43N Limited Genetic Variation [7]
WT1 TTZ8UT4 Limited Genetic Variation [8]
C1S TT7LRQH moderate Altered Expression [9]
TRPC6 TTRBT3W moderate Genetic Variation [10]
ACAT1 TTK3C21 Strong Biomarker [11]
ALOX5 TTSJ6Q4 Strong Biomarker [12]
APOA4 TTNC3WS Strong Altered Expression [13]
APOB TTN1IE2 Strong Biomarker [14]
APOL1 TTDB8PW Strong Biomarker [15]
CD2 TTJDUNO Strong Biomarker [16]
CD80 TT89Z17 Strong Altered Expression [17]
CNP TT71P0H Strong Biomarker [18]
CNTN1 TTPR8FK Strong Biomarker [19]
CTSL TT36ETB Strong Altered Expression [20]
DDC TTN451K Strong Biomarker [21]
DGAT1 TT0GV3R Strong Biomarker [22]
ECE1 TTQ9RYT Strong Biomarker [23]
EDNRA TTKRD0G Strong Biomarker [24]
F3 TT38MDJ Strong Biomarker [25]
F9 TTFEZ5Q Strong Biomarker [26]
FAT1 TTGUJYV Strong Biomarker [27]
FGF2 TTGKIED Strong Biomarker [28]
GATA3 TT45KOB Strong Biomarker [29]
HLA-DRB1 TTUXSTW Strong Genetic Variation [30]
HMBS TTT0HW3 Strong Biomarker [31]
HSD11B2 TT9H85R Strong Biomarker [32]
IL2 TTF89GD Strong Altered Expression [33]
IL4 TTLGTKB Strong Therapeutic [34]
KCNJ1 TTJ13ST Strong Biomarker [35]
KLKB1 TTN0PCX Strong Biomarker [36]
LCAT TTGZ91P Strong Altered Expression [37]
LTA4H TTXZEAJ Strong Altered Expression [38]
MANF TT56RYE Strong Biomarker [39]
MAPKAPK2 TTMUG9D Strong Biomarker [40]
MLYCD TT9Z4YD Strong Genetic Variation [41]
MMP1 TTMX39J Strong Biomarker [42]
MS4A1 TTUE541 Strong Biomarker [43]
NCK1 TTMA3VF Strong Biomarker [44]
NOS1 TTZUFI5 Strong Biomarker [45]
NPPC TTRK0B9 Strong Altered Expression [18]
PCSK9 TTNIZ2B Strong Altered Expression [46]
PLA2G7 TTDNFMT Strong Biomarker [47]
PLA2R1 TTHKW7D Strong Biomarker [48]
PLG TTP86E2 Strong Biomarker [49]
PPIF TTRFQTB Strong Genetic Variation [50]
SERPINC1 TT4QPUL Strong Biomarker [51]
SMAD1 TT9GR53 Strong Biomarker [52]
SOAT2 TTAK0IN Strong Biomarker [53]
TF TT8WXAV Strong Biomarker [54]
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⏷ Show the Full List of 55 DTT(s)
This Disease Is Related to 95 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL4A5 OTHG60RE Limited Genetic Variation [55]
COQ8B OTBY50BD Limited Biomarker [56]
COX2 OTTMVBJJ Limited Genetic Variation [57]
DGKE OTWS86AS Limited Biomarker [58]
FGA OTMIHY80 Limited Genetic Variation [59]
FIS1 OT2HL10J Limited Biomarker [60]
GUCA2B OTZERX04 Limited Biomarker [61]
INF2 OT8ZM13C Limited Genetic Variation [62]
KANK1 OT2E7A6W Limited Genetic Variation [63]
MAGI2 OTXDDKZS Limited Biomarker [64]
MYO1E OTM9YSIZ Limited Genetic Variation [65]
NUP107 OTG4RDYS Limited Genetic Variation [66]
NUP133 OTC294HE Limited Altered Expression [66]
NUP37 OTPZH72U Limited Biomarker [67]
SCARB2 OTN929M8 Limited Genetic Variation [68]
TP53RK OTARRZAB Limited Biomarker [69]
MEFV OTRJ6S6K Disputed Biomarker [70]
CRB2 OTG0L2CE moderate Genetic Variation [71]
CRELD2 OTL73AO8 moderate Biomarker [72]
EMP2 OTPS2H0L moderate Biomarker [73]
GPC5 OT8NR7GC moderate Biomarker [74]
KANK2 OT3SZIWM moderate Biomarker [75]
LAMA5 OTIIXE4M moderate Genetic Variation [76]
NPHS2 OTLCNUII moderate Genetic Variation [77]
PLCE1 OTJISZOX moderate Genetic Variation [78]
PTPRO OTFLKWOY moderate Genetic Variation [79]
TBC1D8B OTSYGOXH moderate Biomarker [80]
A2M OTFTX90K Strong Biomarker [51]
ACTN4 OTCNZAJ5 Strong Biomarker [81]
AHI1 OT8K2YWY Strong Genetic Variation [82]
APOM OTI3FQQC Strong Altered Expression [2]
AQP2 OTQLBKK6 Strong Biomarker [83]
ARHGDIA OTEXWJDO Strong Biomarker [75]
ATAD1 OTJ02XFL Strong Biomarker [84]
BTC OTW4B2O0 Strong Genetic Variation [30]
CABIN1 OT4G5CIK Strong Biomarker [85]
CCL13 OTNX0JD0 Strong Altered Expression [86]
CD2AP OTC76KQM Strong Altered Expression [87]
CFHR5 OT7BMOYE Strong Genetic Variation [88]
CFL1 OTT6D5MH Strong Therapeutic [89]
CLDN2 OTRF3D6Y Strong Altered Expression [90]
CMIP OTZN8Z4A Strong Biomarker [91]
COL1A1 OTI31178 Strong Altered Expression [92]
COL4A1 OTL6D1YE Strong Genetic Variation [93]
COL4A2 OTJK1LKN Strong Biomarker [42]
COQ2 OTDAKEY4 Strong Biomarker [94]
COQ6 OTZWW1FX Strong Genetic Variation [95]
DDN OTM52ZF5 Strong Biomarker [96]
EXT1 OTRPALJK Strong Genetic Variation [97]
GLCCI1 OTU0R1CU Strong Biomarker [98]
GPAM OTR1XD9B Strong Biomarker [99]
GUCA2A OTUSF75G Strong Biomarker [100]
HLA-DQB1 OTVVI3UI Strong Genetic Variation [82]
HPX OT14T7Q1 Strong Biomarker [101]
ITGA3 OTBCH21D Strong Genetic Variation [102]
ITSN2 OT8S0OO8 Strong Biomarker [103]
KANK4 OT5WC0Q8 Strong Genetic Variation [75]
KIRREL1 OTOA7ON7 Strong Biomarker [104]
LAMB2 OT71OI2Y Strong Genetic Variation [105]
LGALSL OTC983KJ Strong Altered Expression [86]
LIPC OTZY5SC9 Strong Biomarker [106]
MAF OT1GR3IZ Strong Biomarker [107]
MPV17 OT579DMU Strong Biomarker [108]
MYOC OT6DAHNF Strong Biomarker [109]
MZB1 OT071TET Strong Biomarker [110]
NCK2 OTUYPF55 Strong Biomarker [44]
NFASC OTBDUXZT Strong Biomarker [19]
NPHS1 OT21JD3P Strong Genetic Variation [111]
NPNT OTFZAO1G Strong Biomarker [112]
NSD3 OT3677ZG Strong Biomarker [113]
OLFM1 OTOYPEWW Strong Biomarker [109]
OSGEP OT38HX9V Strong Genetic Variation [114]
PARM1 OTDNK7EX Strong Genetic Variation [82]
PAX2 OTKP1N8F Strong Biomarker [115]
PDSS2 OTEOQBMX Strong Genetic Variation [116]
PHB2 OTCAX3AW Strong Biomarker [117]
PLCL1 OTJL2C79 Strong Genetic Variation [118]
PODXL OTPNQXF3 Strong Biomarker [119]
PPARGC1A OTHCDQ22 Strong Biomarker [120]
PTPRD OTZPJ3GX Strong Genetic Variation [82]
RAB11A OTC4FW0J Strong Biomarker [121]
RAB5A OTFR2KM4 Strong Genetic Variation [122]
SALL1 OTYYZGLH Strong Altered Expression [123]
SCNN1A OTE2KVZV Strong Biomarker [124]
SCNN1B OT61QQTL Strong Biomarker [124]
SMARCAL1 OTTKXLUZ Strong CausalMutation [125]
SOCS5 OTN1ABYR Strong Altered Expression [126]
SQOR OTTLD0KB Strong Altered Expression [127]
STOM OTC8R6EH Strong Biomarker [128]
SYNPO OTICDJAB Strong Biomarker [129]
TBC1D9 OTSSCTB5 Strong Genetic Variation [130]
TFE3 OTM99ZWH Strong Biomarker [131]
THSD7A OT7249HH Strong Biomarker [132]
TNS2 OTP72P0F Strong Biomarker [103]
TRIM8 OTS6JFR0 Strong Biomarker [133]
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⏷ Show the Full List of 95 DOT(s)

References

1 Lymphocyte adenosine deaminase activity in children with idiopathic nephrotic syndrome.Pediatr Nephrol. 2005 Oct;20(10):1426-9. doi: 10.1007/s00467-005-1872-2. Epub 2005 Aug 13.
2 Characteristics of lipid metabolism including serum apolipoprotein M levels in patients with primary nephrotic syndrome.Lipids Health Dis. 2017 Sep 6;16(1):167. doi: 10.1186/s12944-017-0556-9.
3 Proteinuric kidney disease in children at Queen Elizabeth Central Hospital, Malawi.BMC Nephrol. 2018 Jan 31;19(1):21. doi: 10.1186/s12882-018-0832-6.
4 Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.Amyloid. 2014 Jun;21(2):110-2. doi: 10.3109/13506129.2014.891502. Epub 2014 Mar 6.
5 Interleukin-7 stimulation inhibits nephrin activation and induces podocyte injury.Biochem Biophys Res Commun. 2018 Dec 9;507(1-4):100-105. doi: 10.1016/j.bbrc.2018.10.173. Epub 2018 Nov 16.
6 CD36 Promotes Podocyte Apoptosis by Activating the Pyrin Domain-Containing-3 (NLRP3) Inflammasome in Primary Nephrotic Syndrome.Med Sci Monit. 2018 Sep 27;24:6832-6839. doi: 10.12659/MSM.909810.
7 Impact of the 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene on primary nephrotic syndrome.Mol Med Rep. 2014 Mar;9(3):894-8. doi: 10.3892/mmr.2014.1903. Epub 2014 Jan 17.
8 Leukodystrophy with disorders of sex development due to WT1 mutations.J Neurol Sci. 2018 Jul 15;390:94-98. doi: 10.1016/j.jns.2018.04.020. Epub 2018 Apr 13.
9 Gene expression analysis detected a low expression level of C1s gene in ICR-derived glomerulonephritis (ICGN) mice.Nephron Exp Nephrol. 2013;123(3-4):34-45. doi: 10.1159/000354057. Epub 2013 Aug 23.
10 TRPC channels: Regulation, dysregulation and contributions to chronic kidney disease.Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1041-1066. doi: 10.1016/j.bbadis.2019.04.001. Epub 2019 Apr 4.
11 Sterol regulatory element-binding proteins, liver X receptor, ABCA1 transporter, CD36, scavenger receptors A1 and B1 in nephrotic kidney.Am J Nephrol. 2009;29(6):607-14. doi: 10.1159/000193631. Epub 2009 Jan 16.
12 Effects of celecoxib and nordihydroguaiaretic acid on puromycin aminonucleoside-induced nephrosis in the rat.J Korean Med Sci. 2009 Jan;24 Suppl(Suppl 1):S183-8. doi: 10.3346/jkms.2009.24.S1.S183. Epub 2009 Jan 29.
13 Role of the kidney in the metabolism of apolipoprotein A-IV: influence of the type of proteinuria.J Lipid Res. 2006 Sep;47(9):2071-9. doi: 10.1194/jlr.M600178-JLR200. Epub 2006 Jun 20.
14 Dyslipidemia and nephrotic syndrome: recent advances.J Ren Nutr. 2005 Apr;15(2):195-203. doi: 10.1053/j.jrn.2004.10.003.
15 Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.Am J Kidney Dis. 2019 Oct;74(4):549-557. doi: 10.1053/j.ajkd.2019.01.033. Epub 2019 Apr 5.
16 Nephrotic syndrome associated with chronic lymphocytic leukemia: an immunological and pathological study.Clin Nephrol. 1989 Feb;31(2):107-16.
17 Urinary CD80 as a Replacement for Renal Biopsy for Diagnosis of Pediatric Minimal Change Disease.Iran J Kidney Dis. 2018 Mar;12(2):107-111.
18 CNP production in the kidney and effects of protein intake restriction in nephrotic syndrome.Am J Physiol Renal Physiol. 2002 Sep;283(3):F464-72. doi: 10.1152/ajprenal.00372.2001.
19 Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.Curr Opin Neurol. 2019 Oct;32(5):651-657. doi: 10.1097/WCO.0000000000000725.
20 Expression of Cathepsin L and Its Intrinsic Inhibitors in Glomeruli of Rats With Puromycin Aminonucleoside Nephrosis.J Histochem Cytochem. 2018 Dec;66(12):863-877. doi: 10.1369/0022155418791822. Epub 2018 Jul 27.
21 Blunted renal dopaminergic system activity in puromycin aminonucleoside-induced nephrotic syndrome.Nephrol Dial Transplant. 2006 Feb;21(2):314-23. doi: 10.1093/ndt/gfi171. Epub 2005 Oct 4.
22 Up-regulation of hepatic Acyl CoA: Diacylglycerol acyltransferase-1 (DGAT-1) expression in nephrotic syndrome.Kidney Int. 2004 Jul;66(1):262-7. doi: 10.1111/j.1523-1755.2004.00724.x.
23 Regulation of endothelin-converting enzyme 1 in nephrotic syndrome in rats.Nephron Exp Nephrol. 2003;94(4):e137-45. doi: 10.1159/000072497.
24 Antiproteinuric effect of an endothelin-1 receptor antagonist in puromycin aminonucleoside-induced nephrosis in rat.Pediatr Res. 2018 May;83(5):1041-1048. doi: 10.1038/pr.2018.11. Epub 2018 Feb 21.
25 Simvastatin inhibits tissue factor and plasminogen activator inhibitor-1 secretion by peripheral blood mononuclear cells in patients with primary nephrotic syndrome. Eur J Med Res. 2007 May 29;12(5):216-21.
26 Effective gene therapy for haemophilic mice with pathogenic factor IX antibodies.EMBO Mol Med. 2013 Nov;5(11):1698-709. doi: 10.1002/emmm.201302859. Epub 2013 Sep 16.
27 Molecular basis of steroid-resistant nephrotic syndrome.Nefrologia. 2005;25 Suppl 2:25-8.
28 Common variation in GPC5 is associated with acquired nephrotic syndrome.Nat Genet. 2011 May;43(5):459-63. doi: 10.1038/ng.792. Epub 2011 Mar 27.
29 Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.Eur J Pediatr. 2013 Jan;172(1):107-10. doi: 10.1007/s00431-012-1845-y. Epub 2012 Oct 5.
30 Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.J Am Soc Nephrol. 2018 Jul;29(7):2000-2013. doi: 10.1681/ASN.2017111185. Epub 2018 Jun 14.
31 Alterations in the ubiquitin proteasome system in persistent but not reversible proteinuric diseases.J Am Soc Nephrol. 2014 Nov;25(11):2511-25. doi: 10.1681/ASN.2013050522. Epub 2014 Apr 10.
32 Glucocorticoid-mediated mineralocorticoid receptor activation and hypertension.Curr Opin Nephrol Hypertens. 2004 Jul;13(4):451-8. doi: 10.1097/01.mnh.0000133976.32559.b0.
33 Soluble interleukine-2 receptor and MDR1 gene expression levels as inflammatory biomarkers for prediction of steroid response in children with nephrotic syndrome.Iran J Kidney Dis. 2011 Jul;5(3):154-61.
34 Protection Effect of Zhen-Wu-Tang on Adriamycin-Induced Nephrotic Syndrome via Inhibiting Oxidative Lesions and Inflammation Damage.Evid Based Complement Alternat Med. 2014;2014:131604. doi: 10.1155/2014/131604. Epub 2014 Apr 9.
35 Inhibition of K+ secretion in the distal nephron in nephrotic syndrome: possible role of albuminuria.J Physiol. 2011 Jul 15;589(Pt 14):3611-21. doi: 10.1113/jphysiol.2011.209692. Epub 2011 May 23.
36 Plasma kallikrein activates the epithelial sodium channel invitro but is not essential for volume retention in nephrotic mice.Acta Physiol (Oxf). 2018 Sep;224(1):e13060. doi: 10.1111/apha.13060. Epub 2018 Mar 25.
37 Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review.J Clin Lipidol. 2018 Jul-Aug;12(4):888-897.e2. doi: 10.1016/j.jacl.2018.05.002. Epub 2018 May 15.
38 Gene expression of 5-lipoxygenase and LTA4 hydrolase in renal tissue of nephrotic syndrome patients.Clin Exp Immunol. 1999 May;116(2):347-53. doi: 10.1046/j.1365-2249.1999.00858.x.
39 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.
40 Pharmacological and genetic inhibition of downstream targets of p38 MAPK in experimental nephrotic syndrome.Am J Physiol Renal Physiol. 2018 Apr 1;314(4):F602-F613. doi: 10.1152/ajprenal.00207.2017. Epub 2017 Nov 29.
41 Expression of the Wnt/-catenin signal pathway in patients with acute renal injury.Eur Rev Med Pharmacol Sci. 2017 Oct;21(20):4661-4667.
42 Renal extracellular matrix accumulation in acute puromycin aminonucleoside nephrosis in rats.Am J Pathol. 1992 Dec;141(6):1381-96.
43 Accelerating the Depletion of Circulating Anti-Phospholipase A2 Receptor Antibodies in Patients with Severe Membranous Nephropathy: Preliminary Findings with Double Filtration Plasmapheresis and Ofatumumab.Nephron. 2020;144(1):30-35. doi: 10.1159/000501858. Epub 2019 Jul 23.
44 Nck proteins maintain the adult glomerular filtration barrier.J Am Soc Nephrol. 2009 Jul;20(7):1533-43. doi: 10.1681/ASN.2009010056. Epub 2009 May 14.
45 Downregulation of nitric oxide synthase in nephrotic syndrome: role of proteinuria.Biochim Biophys Acta. 2003 Jul 14;1638(2):129-37. doi: 10.1016/s0925-4439(03)00061-9.
46 Protein convertase subtilisin/kexin type 9 biology in nephrotic syndrome: implications for use as therapy.Nephrol Dial Transplant. 2020 Oct 1;35(10):1663-1674. doi: 10.1093/ndt/gfz108.
47 Changes in glycerophospholipid profile in experimental nephrotic syndrome.Metabolism. 1996 Jul;45(7):822-6. doi: 10.1016/s0026-0495(96)90153-5.
48 Role of phospholipase A2 receptor 1 antibody level at diagnosis for long-term renal outcome in membranous nephropathy.PLoS One. 2019 Sep 9;14(9):e0221293. doi: 10.1371/journal.pone.0221293. eCollection 2019.
49 Sodium retention by uPA-plasmin-ENaC in nephrotic syndrome-Authors reply.Acta Physiol (Oxf). 2020 Apr;228(4):e13432. doi: 10.1111/apha.13432. Epub 2020 Jan 9.
50 Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome. BMC Pharmacol Toxicol. 2018 Apr 3;19(1):14.
51 Plasma proteinase inhibitor activity and hemostasis tests in children with nephrotic syndrome. Effect of prednisone alone and prednisone plus epsilon-aminocaproic acid treatment regimens: a preliminary report. Am J Ther. 2001 Mar-Apr;8(2):97-107. doi: 10.1097/00045391-200103000-00004.
52 Chinese herbal formula Qilong-Lishui granule improves puromycin aminonucleoside-induced renal injury through regulation of bone morphogenetic proteins.Nephrology (Carlton). 2007 Oct;12(5):466-73. doi: 10.1111/j.1440-1797.2007.00828.x.
53 Up-regulation of acyl-coenzyme A:cholesterol acyltransferase (ACAT) in nephrotic syndrome.Kidney Int. 2002 May;61(5):1769-75. doi: 10.1046/j.1523-1755.2002.00319.x.
54 [Concentrations of serum iron and transferrin in children with nephrotic syndrome].Zhongguo Dang Dai Er Ke Za Zhi. 2006 Dec;8(6):467-9.
55 Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.PLoS One. 2013 Oct 10;8(10):e76360. doi: 10.1371/journal.pone.0076360. eCollection 2013.
56 ADCK4 "reenergizes" nephrotic syndrome.J Clin Invest. 2013 Dec;123(12):4996-9. doi: 10.1172/JCI73168. Epub 2013 Nov 25.
57 Risk of Nephrotic Syndrome for Non-Steroidal Anti-Inflammatory Drug Users.Clin J Am Soc Nephrol. 2019 Sep 6;14(9):1355-1362. doi: 10.2215/CJN.14331218. Epub 2019 Aug 15.
58 The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Nat Rev Nephrol. 2016 Aug;12(8):472-83. doi: 10.1038/nrneph.2016.87. Epub 2016 Jul 4.
59 Discordant evolution of nephrotic syndrome in mono- and dizygotic twins.Pediatr Nephrol. 2006 Mar;21(3):419-22. doi: 10.1007/s00467-005-2106-3. Epub 2005 Dec 29.
60 Overproduction of Mitochondrial Fission Proteins in Membranous Nephropathy in Children.Kidney Blood Press Res. 2018;43(6):1927-1934. doi: 10.1159/000496006. Epub 2018 Dec 14.
61 Guanylin and uroguanylin regulate electrolyte transport in isolated human cortical collecting ducts.Kidney Int. 2005 Apr;67(4):1420-7. doi: 10.1111/j.1523-1755.2005.00219.x.
62 Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ -1) and profilin 2.Biosci Rep. 2016 Jan 13;36(1):e00302. doi: 10.1042/BSR20150252.
63 Structural insights into ankyrin repeat-mediated recognition of the kinesin motor protein KIF21A by KANK1, a scaffold protein in focal adhesion.J Biol Chem. 2018 Feb 9;293(6):1944-1956. doi: 10.1074/jbc.M117.815779. Epub 2017 Dec 7.
64 An unexpected role of steroid on podocytes: from zebrafish to human nephrotic syndrome?.Kidney Int. 2019 May;95(5):1015-1017. doi: 10.1016/j.kint.2019.01.044.
65 Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.Mol Genet Genomics. 2020 Jan;295(1):135-142. doi: 10.1007/s00438-019-01609-0. Epub 2019 Sep 13.
66 Moderate Nucleoporin 133 deficiency leads to glomerular damage in zebrafish.Sci Rep. 2019 Mar 18;9(1):4750. doi: 10.1038/s41598-019-41202-4.
67 Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
68 Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.Mol Genet Metab. 2009 Aug;97(4):309-11. doi: 10.1016/j.ymgme.2009.04.011. Epub 2009 May 3.
69 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.
70 Efficacy of anakinra in a patient with systemic amyloidosis presenting as amyloidoma.Int J Rheum Dis. 2018 Feb;21(2):552-559. doi: 10.1111/1756-185X.13250. Epub 2017 Dec 13.
71 Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015 Jan 8;96(1):153-61. doi: 10.1016/j.ajhg.2014.11.014. Epub 2014 Dec 31.
72 Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.JCI Insight. 2017 Dec 7;2(23):e92896. doi: 10.1172/jci.insight.92896.
73 Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8.
74 The Accumulation of Heparan Sulfate S-Domains in Kidney Transthyretin Deposits Accelerates Fibril Formation and Promotes Cytotoxicity.Am J Pathol. 2019 Feb;189(2):308-319. doi: 10.1016/j.ajpath.2018.09.015. Epub 2018 Nov 7.
75 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun;125(6):2375-84. doi: 10.1172/JCI79504. Epub 2015 May 11.
76 Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.Nephrol Dial Transplant. 2019 Mar 1;34(3):485-493. doi: 10.1093/ndt/gfy028.
77 Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.Am J Kidney Dis. 2019 Mar;73(3):400-403. doi: 10.1053/j.ajkd.2018.06.034. Epub 2018 Sep 18.
78 Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ? gene in a family with steroid resistant inherited nephrotic syndrome.Mol Med Rep. 2018 Dec;18(6):5095-5100. doi: 10.3892/mmr.2018.9528. Epub 2018 Oct 2.
79 Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30.
80 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.
81 Ofatumumab in post-transplantation recurrence of focal segmental glomerulosclerosis in a child.Pediatr Transplant. 2019 Jun;23(4):e13413. doi: 10.1111/petr.13413. Epub 2019 Apr 11.
82 Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1.
83 Expression pattern of aquaporins in patients with primary nephrotic syndrome with edema.Mol Med Rep. 2015 Oct;12(4):5625-32. doi: 10.3892/mmr.2015.4209. Epub 2015 Aug 11.
84 Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome.Mol Biol Rep. 2009 May;36(5):1015-21. doi: 10.1007/s11033-008-9275-7. Epub 2008 May 30.
85 A case report of immunoglobulin M nephropathy manifesting as crescentic glomerulonephritis and nephrotic syndrome in an adult.BMC Nephrol. 2019 Aug 27;20(1):335. doi: 10.1186/s12882-019-1528-2.
86 Gene expression profiling of peripheral blood mononuclear cells from patients with minimal change nephrotic syndrome by cDNA microarrays.Am J Nephrol. 2008;28(4):539-47. doi: 10.1159/000114098. Epub 2008 Jan 25.
87 miR-939-5p decreases the enrichment of RNA polymerase II in the promoter region of CD2AP involved in nephrotic syndrome.J Cell Biochem. 2019 Jul;120(7):11366-11374. doi: 10.1002/jcb.28413. Epub 2019 Feb 12.
88 A novel CFHR5 mutation associated with C3 glomerulonephritis in a Turkish girl.J Nephrol. 2014 Aug;27(4):457-60. doi: 10.1007/s40620-013-0008-1. Epub 2013 Dec 5.
89 Cyclosporine A protects podocytes via stabilization of cofilin-1 expression in the unphosphorylated state.Exp Biol Med (Maywood). 2014 Aug;239(8):922-936. doi: 10.1177/1535370214530365. Epub 2014 Apr 15.
90 Ectopic expression of CLDN2 in podocytes is associated with childhood onset nephrotic syndrome.Pediatr Res. 2019 Oct;86(4):485-491. doi: 10.1038/s41390-019-0423-7. Epub 2019 May 13.
91 Nephrotic Syndrome in Small Cell Lung Cancer and Induction of C-Mip in Podocytes.Am J Kidney Dis. 2017 Mar;69(3):477-480. doi: 10.1053/j.ajkd.2016.09.026. Epub 2017 Jan 4.
92 Urinary sediment mRNA level of extracellular matrix molecules in adult nephrotic syndrome.Clin Chim Acta. 2016 May 1;456:157-162. doi: 10.1016/j.cca.2016.03.006. Epub 2016 Mar 16.
93 COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.Hum Genet. 2019 Oct;138(10):1105-1115. doi: 10.1007/s00439-019-02042-4. Epub 2019 Jun 22.
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98 GLCCI1 single nucleotide polymorphisms in pediatric nephrotic syndrome.Pediatr Nephrol. 2012 Sep;27(9):1595-9. doi: 10.1007/s00467-012-2197-6. Epub 2012 Jun 4.
99 Expression profiling of hepatic genes associated with lipid metabolism in nephrotic rats.Am J Physiol Renal Physiol. 2008 Sep;295(3):F662-71. doi: 10.1152/ajprenal.00046.2008. Epub 2008 Jul 9.
100 Structural impact analysis of missense SNPs present in the uroguanylin gene by long-term molecular dynamics simulations.J Theor Biol. 2016 Dec 7;410:9-17. doi: 10.1016/j.jtbi.2016.09.008. Epub 2016 Sep 9.
101 Production of hemopexin by TNF-alpha stimulated human mesangial cells.Kidney Int. 2003 May;63(5):1681-6. doi: 10.1046/j.1523-1755.2003.00907.x.
102 Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.Orphanet J Rare Dis. 2016 Oct 7;11(1):136. doi: 10.1186/s13023-016-0514-z.
103 Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.
104 Interaction of CD80 with Neph1: a potential mechanism of podocyte injury.Clin Exp Nephrol. 2018 Jun;22(3):508-516. doi: 10.1007/s10157-017-1489-3. Epub 2017 Oct 11.
105 A novel mutation of laminin 2 (LAMB2) in two siblings with renal failure.Eur J Pediatr. 2017 Apr;176(4):515-519. doi: 10.1007/s00431-017-2871-6. Epub 2017 Feb 10.
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107 NF-kappa B p65 antagonizes IL-4 induction by c-maf in minimal change nephrotic syndrome.J Immunol. 2004 Jan 1;172(1):688-98. doi: 10.4049/jimmunol.172.1.688.
108 Loss of auditory function in transgenic Mpv17-deficient mice.Hear Res. 1997 Dec;114(1-2):259-63. doi: 10.1016/s0378-5955(97)00175-5.
109 Increased expression of olfactomedin-1 and myocilin in podocytes during puromycin aminonucleoside nephrosis.Nephrol Dial Transplant. 2011 Jan;26(1):83-92. doi: 10.1093/ndt/gfq366. Epub 2010 Jun 30.
110 Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.PLoS One. 2017 Jul 31;12(7):e0182100. doi: 10.1371/journal.pone.0182100. eCollection 2017.
111 Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.Clin Exp Nephrol. 2019 Aug;23(8):1058-1065. doi: 10.1007/s10157-019-01732-7. Epub 2019 Apr 8.
112 Nephronectin (NPNT) and the prediction of nephrotic syndrome response to steroid treatment.Eur J Hum Genet. 2018 Sep;26(9):1354-1360. doi: 10.1038/s41431-018-0182-7. Epub 2018 Jun 11.
113 Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression.Am J Physiol Renal Physiol. 2017 Jun 1;312(6):F1184-F1199. doi: 10.1152/ajprenal.00305.2016. Epub 2017 Feb 22.
114 Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.BMC Nephrol. 2019 Apr 11;20(1):126. doi: 10.1186/s12882-019-1317-y.
115 Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17.
116 Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Pediatr Nephrol. 2018 Mar;33(3):439-446. doi: 10.1007/s00467-017-3814-1. Epub 2017 Oct 14.
117 Minimal change nephrotic syndrome and prohibitin-2 gene polymorphism.Clin Exp Nephrol. 2017 Aug;21(4):665-670. doi: 10.1007/s10157-016-1325-1. Epub 2016 Nov 4.
118 Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5.
119 First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.Clin Sci (Lond). 2019 Jan 3;133(1):9-21. doi: 10.1042/CS20180676. Print 2019 Jan 15.
120 Disorder of fatty acid metabolism in the kidney of PAN-induced nephrotic rats.Am J Physiol Renal Physiol. 2012 Oct;303(7):F1070-9. doi: 10.1152/ajprenal.00365.2011. Epub 2012 Aug 8.
121 TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. doi: 10.1681/ASN.2019040414. Epub 2019 Nov 15.
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123 Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis.Lab Invest. 2017 Nov;97(11):1306-1320. doi: 10.1038/labinvest.2017.69. Epub 2017 Jul 31.
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125 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).BMC Nephrol. 2014 Mar 3;15:41. doi: 10.1186/1471-2369-15-41.
126 SOCS3 and SOCS5 mRNA expressions may predict initial steroid response in nephrotic syndrome children.Folia Histochem Cytobiol. 2011;49(4):719-28. doi: 10.5603/fhc.2011.0096.
127 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.
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129 Synaptopodin protects against proteinuria by disrupting Cdc42:IRSp53:Mena signaling complexes in kidney podocytes.Am J Pathol. 2007 Aug;171(2):415-27. doi: 10.2353/ajpath.2007.070075. Epub 2007 Jun 14.
130 Multi-drug resistance-1 gene polymorphisms in nephrotic syndrome: impact on susceptibility and response to steroids.Gene. 2013 Nov 10;530(2):201-7. doi: 10.1016/j.gene.2013.08.045. Epub 2013 Aug 27.
131 Sunitinib-induced nephrotic syndrome in association with drug response in a patient with Xp11.2 translocation renal cell carcinoma.Jpn J Clin Oncol. 2011 Nov;41(11):1277-81. doi: 10.1093/jjco/hyr140. Epub 2011 Sep 29.
132 Treatment of Membranous Nephropathy in Patients With THSD7A Antibodies Using Immunoadsorption.Am J Kidney Dis. 2019 Dec;74(6):849-852. doi: 10.1053/j.ajkd.2019.05.021. Epub 2019 Aug 23.
133 Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet A. 2018 Nov;176(11):2470-2478. doi: 10.1002/ajmg.a.40357. Epub 2018 Sep 23.