Steroids

NPHS2 stomatin family member, podocin ; Homo sapiens







119 Article(s)
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1 35099763 A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin. 2022 May 2
2 32056192 Genetic Testing in Pediatric Kidney Disease. 2020 Sep 1
3 32129207 NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. 2020 Jan-Feb 1
4 32482922 CG/CA genotypes represent novel markers in the NPHS2 gene region associated with nephrotic syndrome. 2020 1
5 32585588 Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene. 2020 Jul 2
6 32691731 Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis. 2020 Oct 1
7 30241959 Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling. 2019 Mar 2
8 30793612 NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis. 2019 4
9 31529341 TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran. 2019 Dec 1
10 31754646 The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis. 2019 1
11 31949506 Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome. 2019 Oct 15 1
12 29382718 Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 2018 Mar 16 2
13 30260545 The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. 2018 Dec 2
14 30450462 NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children. 2018 Nov 1
15 26820844 Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. 2017 Feb 2
16 27573339 Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. 2017 Aug 1
17 27885584 WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. 2017 Feb 1
18 28529802 R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome. 2017 2
19 28712774 Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children. 2017 Sep 10 1
20 28785586 NPHS2 Mutations: A Closer Look to Latin American Countries. 2017 1
21 26455708 [NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome]. 2016 Jan-Feb 1
22 27193387 In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants. 2016 Jul 1
23 26420286 NPHS2 mutations account for only 15% of nephrotic syndrome cases. 2015 Sep 29 1
24 24227627 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 2014 Feb 3
25 24464702 Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach. 2014 Mar 1
26 24509478 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 2014 Mar 1
27 24519673 NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy? 2014 Jun 2
28 24559085 Podocin and beta dystroglycan expression to study podocyte-podocyte and basement membrane matrix connections in adult protienuric states. 2014 Feb 21 1
29 24596097 A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin. 2014 Apr 18 1
30 24674236 NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians. 2014 Jul 2
31 24715228 The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 2014 Jul 3
32 24856380 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 2014 May 3
33 24878955 Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children. 2014 May 1
34 24969201 mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis. 2014 Jul 1
35 25112471 NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome. 2014 Oct 2
36 25852895 Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. 2014 Jun 2
37 23242530 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 2013 May 1
38 23437316 A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems. 2013 1
39 23515051 Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 2013 Jul 1
40 23648087 Characterization of a short isoform of the kidney protein podocin in human kidney. 2013 May 6 1
41 23800802 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 2013 Oct 1
42 23913389 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 2013 Jun 24 7
43 23982418 The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation. 2013 Aug 28 1
44 24072147 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 2013 Sep 3
45 24072153 R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study. 2013 Sep 1
46 24231487 Does NPHS1 polymorphism modulate P118l mutation in NPHS2? 2013 Nov 1
47 24413855 Steroid-resistant nephrotic syndrome: impact of genetic testing. 2013 Nov-Dec 1
48 22080622 NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. 2012 Mar 3
49 22388834 [Therapeutic apheresis in idiopathic nephrotic syndrome]. 2012 Jan-Feb 2
50 22565185 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 2012 Jul 10 1