A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal. (Q51837443)

13 April 2018

title

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

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13 April 2018

author

Celso Eduardo Benedetti

3

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13 April 2018

author name string

J G Assumpção

1

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13 April 2018

L F Caldas Ferraz

2

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A T Maciel-Guerra

4

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G Guerra

5

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A P Marques-de-Faria

6

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M T Matias Baptista

7

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M P de Mello

8

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publication date

1 July 2005

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Journal of Endocrinological Investigation

published in

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volume

28

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issue

7

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13 April 2018

page(s)

651-656

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13 April 2018

Synergistic activation of a human promoter in vivo by transcription factor Sp1.

cites work

1 reference

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Male development of chromosomally female mice transgenic for Sry.

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Evidence that the SRY protein is encoded by a single exon on the human Y chromosome

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

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Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors

21 January 2018

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Definition of a consensus DNA binding site for SRY.

21 January 2018

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Evolutionary conservation in the DNA-binding and -bending properties of HMG-boxes from SRY proteins of primates

21 January 2018

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Mutations inSRY andSOX9: Testis-determining genes

21 January 2018

1 reference

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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

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03347266

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FBF03347266

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

21 January 2018

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Conservation of Y chromosome-specific sequences immediately 5' to the testis determining gene in primates

21 January 2018

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Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.

21 January 2018

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Characterization of two Sp1 binding sites of the human sex determining SRY promoter

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

The human SRY transcript

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Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

21 January 2018

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Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis.

21 January 2018

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

21 January 2018

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Control of eukaryotic messenger RNA synthesis by sequence-specific DNA-binding proteins.

21 January 2018

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Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation

21 January 2018

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12 December 2020

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

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12 December 2020

True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile.

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12 December 2020

SRYand architectural gene regulation: the kinetic stability of a bent protein-DNA complex can regulate its transcriptional potency

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12 December 2020

A cooperative interaction between NF-kappa B and Sp1 is required for HIV-1 enhancer activation.

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12 December 2020

The Wilms' tumor gene WT1 can regulate genes involved in sex determination and differentiation: SRY, Müllerian-inhibiting substance, and the androgen receptor

1 reference

12 December 2020

Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach

1 reference

12 December 2020

Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism

1 reference

12 December 2020

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

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12 December 2020

Genetics of XY sex reversal

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12 December 2020

Mutations in SRY and SOX9: testis-determining genes

1 reference

12 December 2020

Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03347266

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13 April 2018

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13 April 2018