(Q52548089)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Claire L Mitchell

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

77

1 reference

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14 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

217-225

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

Male development of chromosomally female mice transgenic for Sry.

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Gene interactions in gonadal development.

1 reference

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7 January 2021

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development

1 reference

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7 January 2021

Definition of a consensus DNA binding site for SRY.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

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/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Description and functional implications of a novel mutation in the sex-determining gene SRY.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

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7 January 2021

Bending of DNA by gene-regulatory proteins: construction and use of a DNA bending vector

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7 January 2021

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

1 reference

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7 January 2021

SRY, like HMG1, recognizes sharp angles in DNA

1 reference

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7 January 2021

Empirical estimation of protein-induced DNA bending angles: applications to lambda site-specific recombination complexes

1 reference

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7 January 2021

Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Genetic evidence equating SRY and the testis-determining factor

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

SRY protein enhances transcription of Fos-related antigen 1 promoter constructs.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Characterization of the DNA binding and bending HMG domain of the yeast hypoxic repressor Rox1

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Determinants of DNA binding and bending by the Saccharomyces cerevisiae high mobility group protein NHP6A that are important for its biological activities. Role of the unique N terminus and putative intercalating methionine

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

XY Sex reversal associated with a nonsense mutation in SRY

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900165-8

7 January 2021

10.1016/S1096-7192(02)00165-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12409269%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference