Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development (Q36577001)

15 August 2017

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title

Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development (English)

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15 August 2017

main subject

sex-determination system

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Ganka Nikolova

1

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15 August 2017

Eric Vilain

series ordinal

2

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15 August 2017

publication date

1 April 2006

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Nature Clinical Practice Endocrinology and Metabolism

15 August 2017

published in

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15 August 2017

volume

2

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15 August 2017

issue

4

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15 August 2017

page(s)

231-238

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Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination

15 August 2017

cites work

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Signaling at the crossroads of gonad development

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The pathway to femaleness: current knowledge on embryonic development of the ovary

21 January 2018

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One tissue, two fates: molecular genetic events that underlie testis versus ovary development

21 January 2018

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Sex determination and differentiation

21 January 2018

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Minireview: transcriptional regulation of gonadal development and differentiation.

21 January 2018

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Vertebrate sex determination: many means to an end.

21 January 2018

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AMH/MIS: what we know already about the gene, the protein and its regulation

21 January 2018

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Steroidogenic factor 1: an essential mediator of endocrine development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Steroidogenic factor-1 contributes to the cyclic-adenosine monophosphate down-regulation of human SRY gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Porcine SRY promoter is a target for steroidogenic factor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Influence on spatiotemporal patterns of a male-specific Sox9 activation by ectopic Sry expression during early phases of testis differentiation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

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/10.1038%2FNCPENDMET0143

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Autosomal XX sex reversal caused by duplication of SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

The HMG box of SRY is a calmodulin binding domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Genetic evidence equating SRY and the testis-determining factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A familial mutation in the testis-determining gene SRY shared by both sexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Acampomelic campomelic dysplasia withSOX9 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Interaction of normal and mutant SRY proteins with DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

PCR detection of distal Yp sequences in an XX true hermaphrodite

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

Sex-reversing mutations affect the architecture of SRY-DNA complexes

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0143

7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0143

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Dimensions Publication ID

15 August 2017

1039140737

0 references

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