Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q54443969

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Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans Regulation of male sex determination: genital ridge formation and Sry activation in mice.Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box.Ste11p, a high-mobility-group box DNA-binding protein, undergoes pheromone- and nutrient-regulated nuclear-cytoplasmic shuttling.Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development.Human SRY inhibits beta-catenin-mediated transcription Calmodulin-driven nuclear entry: trigger for sex determination and terminal differentiation.Regulation of human SRY subcellular distribution by its acetylation/deacetylation.Nucleocytoplasmic shuttling of SOX14A and SOX14B transcription factors Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.

P2860

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P2860

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

http://www.wikidata.org/entity/Q54443969

description

2001 nî lūn-bûn

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2001年の論文

@ja

2001年学术文章

@wuu

2001年学术文章

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2001年学术文章

@zh-cn

2001年学术文章

@zh-hans

2001年学术文章

@zh-my

2001年学术文章

@zh-sg

2001年學術文章

@yue

2001年學術文章

@zh-hant

name

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

@en

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

@nl

type

label

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

@en

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

@nl

prefLabel

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

@en

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

@nl

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P1433

Journal of Biological Chemistry

P1476

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

@en

P2093

Chan G

http://www.w3.org/2001/XMLSchema#string

Jancso-Radek A

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Li B

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Liu S

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Weiss MA

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Zhang W

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P2860

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

The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity

Structural basis for DNA bending by the architectural transcription factor LEF-1

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

Crystallographic analysis of the recognition of a nuclear localization signal by the nuclear import factor karyopherin alpha

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

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

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

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

The nuclear localization signal of lymphoid enhancer factor-1 is recognized by two differentially expressed Srp1-nuclear localization sequence receptor proteins

P304

46480-46484

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scholarly article

P356

10.1074/JBC.C100388200

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P433

49

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276

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P698

11641389

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