Clinical and genetic findings of five patients with WT1-related disorders. (Q51872967)

15 April 2018

title

Clinical and genetic findings of five patients with WT1-related disorders. (English)

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author

Gil Guerra-Junior

4

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author name string

Juliana Gabriel R de Andrade

1

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Mara Sanches Guaragna

2

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Fernanda Caroline Soardi

3

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Maricilda Palandi de Mello

5

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Andréa Trevas Maciel-Guerra

6

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publication date

1 November 2008

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Arquivos Brasileiros de Endocrinologia e Metabologia

published in

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volume

52

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issue

8

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page(s)

1236-1243

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A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

The candidate Wilms' tumour gene is involved in genitourinary development

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Alternative splicing and genomic structure of the Wilms tumor gene WT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Alternative splicing of Wilms' tumor suppressor protein modulates DNA binding activity through isoform-specific DNA-induced conformational changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

The human sex-determining gene SRY is a direct target of WT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Antagonism of WT1 activity by protein self-association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Abnormal sexual differentiation and neoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

A clinical overview of WT1 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800006

10.1590/S0004-27302008000800006

21 January 2018

Identifiers

DOI

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15 April 2018

release_5nn2wvvrx5bwnpc6k24vaspouy

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/5nn2wvvrx5bwnpc6k24vaspouy

mapped directly with Wikidata item

24 November 2022

based on heuristic

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15 April 2018