Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? (Q33734434)

29 July 2017

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title

Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? (English)

1 reference

29 July 2017

Koziell A

1

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29 July 2017

Grundy R

series ordinal

2

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29 July 2017

language of work or name

English

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publication date

1 October 1999

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Archives of Disease in Childhood

29 July 2017

published in

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29 July 2017

volume

81

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29 July 2017

issue

4

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29 July 2017

page(s)

365-369

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GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

29 July 2017

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21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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Software and database for the analysis of mutations in the human WT1 gene

21 June 2018

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 June 2018

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A clinical overview of WT1 gene mutations

21 June 2018

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WT1 expression alters tumorigenicity of the G401 kidney-derived cell line

21 June 2018

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WT-1 is required for early kidney development

21 June 2018

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The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor

21 June 2018

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The role of WT1 in Wilms tumorigenesis

21 June 2018

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Precursor lesions of Wilms tumor: clinical and biological implications

21 June 2018

1 reference

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Fine structure analysis of the WT1 gene in sporadic Wilms tumors

21 June 2018

1 reference

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21 June 2018

The Denys-Drash syndrome

1 reference

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Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing

21 June 2018

1 reference

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Antagonism of WT1 activity by protein self-association.

21 June 2018

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Mutation and cancer: a model for Wilms' tumor of the kidney

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure

21 June 2018

1 reference

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Age distribution of Wilms' tumor: report from the National Wilms' Tumor Study.

21 June 2018

1 reference

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The candidate Wilms' tumour gene is involved in genitourinary development

21 June 2018

1 reference

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Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor

21 June 2018

1 reference

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Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

21 June 2018

1 reference

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Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Characterization of the zinc finger protein encoded by the WT1 Wilms' tumor locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Alternative splicing and genomic structure of the Wilms tumor gene WT1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Extended followup of bilateral Wilms tumor: results of the National Wilms Tumor Study.

21 June 2018

1 reference

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Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

21 June 2018

1 reference

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Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo.

30 October 2018

1 reference

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Bilateral Wilms' tumor: long-term survival and some epidemiological features

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Infrequent mutation of theWT1 gene in 77 Wilms' tumors

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718089

Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion

30 October 2018

1 reference

12 December 2020

Low frequency of mutations in the WT1 coding region in Wilms' tumor

1 reference

12 December 2020

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion

1 reference

12 December 2020

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

1 reference

12 December 2020

A non-AUG translational initiation event generates novel WT1 isoforms

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.81.4.365

1 reference

release_dof3mwiu5vasxj6rl4gj7uhxoq

29 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dof3mwiu5vasxj6rl4gj7uhxoq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1718089

1 reference

29 July 2017

1 reference