Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S96S
Back to variants list

NPHS2

NM_014625.4:p.S96S

Associated Papers

Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome.

Zhou Q et al.

Frontiers in Medicine, 2022

The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.

Govender MA et al.

Communications Biology, 2019

Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.

Joshi BB et al.

Gene, 2017

NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.

Dai Y et al.

Renal Failure, 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K et al.

Human Mutation, 2014

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy.

Zhu L et al.

Nephrology (carlton, Vic.), 2009

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Megremis S et al.

Genetic Testing and Molecular Biomarkers, 2009

Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome.

Schwaderer P et al.

Pediatric Nephrology (berlin, Germany), 2008

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

Berdeli A et al.

Pediatric Nephrology (berlin, Germany), 2007

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Gbadegesin R et al.

Pediatric Nephrology (berlin, Germany), 2007

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Franceschini N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?

Lahdenkari AT et al.

Pediatric Nephrology (berlin, Germany), 2005

Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.

Yu Z et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005

[Steroid-resistant nephrotic syndrome and NPHS2 gene].

Yu ZH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

Aucella F et al.

Nephron. Clinical Practice, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."