(Q42645870)

4 November 2017

title

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

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4 November 2017

E B Tagliarini

1

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4 November 2017

J G Assumpção

2

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4 November 2017

M R Scolfaro

3

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4 November 2017

M P de Mello

4

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4 November 2017

A T Maciel-Guerra

5

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4 November 2017

G Guerra Júnior

6

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4 November 2017

C Hackel

7

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4 November 2017

language of work or name

English

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publication date

18 January 2005

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Brazilian Journal of Medical and Biological Research

4 November 2017

published in

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4 November 2017

volume

38

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4 November 2017

issue

1

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4 November 2017

page(s)

17-25

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Sex determination and differentiation

4 November 2017

cites work

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https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

21 January 2018

The complex life of WT1

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

The candidate Wilms' tumour gene is involved in genitourinary development

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Androgen receptor defects: historical, clinical, and molecular perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Equilibrium binding assays reveal the elevated stoichiometry and salt dependence of the interaction between full-length human sex-determining region on the Y chromosome (SRY) and DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

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%2FS0100-879X2005000100004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

A clinical overview of WT1 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Antagonism of WT1 activity by protein self-association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

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%2FS0100-879X2005000100004

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0100-879X2005000100004

10.1590/S0100-879X2005000100004

21 January 2018

Identifiers

DOI

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4 November 2017

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