A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis (Q33769998)

29 July 2017

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

1 reference

focal segmental glomerulosclerosis

29 July 2017

1 reference

2

Gianluca Caridi

1 reference

29 July 2017

5

Emanuela Leonardi

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Luisa Murer

object named as

Luisa Murer

9

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Gian Marco Ghiggeri

object named as

Gian Marco Ghiggeri

7

0 references

Monica Dagnino

4

object named as

Monica Dagnino

1 reference

29 July 2017

1

Elisa Benetti

1 reference

29 July 2017

6

Lina Artifoni

1 reference

29 July 2017

Cristina Malaventura

3

1 reference

PubMed ID

20150449

29 July 2017

Silvio C E Tosatto

8

1 reference

29 July 2017

11 February 2010

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Clinical Journal of the American Society of Nephrology

29 July 2017

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29 July 2017

5

1 reference

29 July 2017

4

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29 July 2017

698-702

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Contribution of individual amino acids to the RNA binding activity of the Wilms' tumor suppressor protein WT1.

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

WT1 and glomerular diseases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Intermediate filament protein nestin is expressed in developing kidney and heart and might be regulated by the Wilms' tumor suppressor Wt1.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

WT1-mediated transcriptional activation is inhibited by dominant negative mutant proteins.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Expression of nestin in the podocytes of normal and diseased human kidneys.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2849688

Slow progressive FSGS associated with an F392L WT1 mutation

30 October 2018

1 reference

12 December 2020

A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

1 reference

12 December 2020

WT1 nephropathy in a girl with normal karyotype (46,XX)

1 reference

12 December 2020

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

1 reference

12 December 2020

Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling

1 reference

12 December 2020

A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1

1 reference

12 December 2020

Clinical spectrum of Denys-Drash and Frasier syndrome

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.05670809

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

20150449