(Q35228497)

7 August 2017

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS. (English)

1 reference

WT1 transcription factor a

7 August 2017

1 reference

GOA release 2020-03-11

author

Nicholas Katsanis

17

1 reference

7 August 2017

Gentzon Hall

1

1 reference

7 August 2017

Rasheed A Gbadegesin

2

1 reference

7 August 2017

Peter Lavin

3

1 reference

7 August 2017

Guanghong Wu

4

1 reference

7 August 2017

Yangfan Liu

5

1 reference

7 August 2017

Edwin C Oh

6

1 reference

7 August 2017

Liming Wang

7

1 reference

7 August 2017

Robert F Spurney

8

1 reference

7 August 2017

Jason Eckel

9

1 reference

7 August 2017

Thomas Lindsey

10

1 reference

7 August 2017

Alison Homstad

11

1 reference

7 August 2017

Andrew F Malone

12

1 reference

7 August 2017

Paul J Phelan

13

1 reference

7 August 2017

Andrey Shaw

14

1 reference

7 August 2017

David N Howell

15

1 reference

7 August 2017

Peter J Conlon

16

1 reference

7 August 2017

Michelle P Winn

18

1 reference

7 August 2017

21 August 2014

1 reference

Journal of the American Society of Nephrology

7 August 2017

1 reference

7 August 2017

26

1 reference

7 August 2017

4

1 reference

7 August 2017

831-843

1 reference

SIFT web server: predicting effects of amino acid substitutions on proteins

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Synaptopodin protects against proteinuria by disrupting Cdc42:IRSp53:Mena signaling complexes in kidney podocytes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Focal segmental glomerulosclerosis--epidemiology aspects in children and adults

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

WT1 and glomerular diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

WT1 induces apoptosis through transcriptional regulation of the proapoptotic Bcl-2 family member Bak.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Endogenous TRPC1, TRPC3, and TRPC7 proteins combine to form native store-operated channels in HEK-293 cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

The major podocyte protein nephrin is transcriptionally activated by the Wilms' tumor suppressor WT1.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

WT1 regulates the expression of the major glomerular podocyte membrane protein Podocalyxin

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Prediction of deleterious human alleles

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

The WT1 gene product stabilizes p53 and inhibits p53-mediated apoptosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Rapid screening of glomerular slit diaphragm integrity in larval zebrafish

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Identification and comparative expression analysis of a second wt1 gene in zebrafish.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Increasing incidence of focal segmental glomerulosclerosis and an examination of demographic patterns.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Detecting polymorphisms and mutations in candidate genes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Congenital nephrotic syndrome in mice lacking CD2-associated protein

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)

24 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4378093

Slow progressive FSGS associated with an F392L WT1 mutation

8 December 2018

1 reference

12 December 2020

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development

1 reference

12 December 2020

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

1 reference

12 December 2020

WT1 activates a glomerular-specific enhancer identified from the human nephrin gene

1 reference

12 December 2020

Chromosome-based method for rapid computer simulation in human genetic linkage analysis

1 reference

12 December 2020

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

1 reference

12 December 2020

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases

1 reference

12 December 2020

Analysis of genetic linkage data for Mendelian traits

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2013101053

1 reference

7 August 2017

1 reference

7 August 2017

1 reference