Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations

PLoS ONE

Volumn 6, Issue 3, 2011, Pages

  Knower, Kevin C ^a   Kelly, Sabine ^a   Ludbrook, Louisa M ^a   Bagheri Fam, Stefan ^a,b   Sim, Helena ^a   Bernard, Pascal ^a   Sekido, Ryohei ^d   Lovell Badge, Robin ^d   Harley, Vincent R ^a,c  

^a HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c MONASH UNIVERSITY   (Australia)

^d NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

STEROIDOGENIC FACTOR 1; TESTIS DETERMINING FACTOR; TESTIS SPECIFIC ENHANCER TRANSCRIPTION FACTOR SOX9; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG; MUTANT PROTEIN; SOX9 PROTEIN, HUMAN; SRY PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN;

ANIMAL CELL; ARTICLE; CHO CELL; CHROMATIN; CONTROLLED STUDY; EMBRYO; FEMALE; GENE ACTIVATION; GENE EXPRESSION REGULATION; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN PHOSPHORYLATION; SEX DETERMINATION; SRY GENE; UPREGULATION; ANTIBODY SPECIFICITY; CELL LINE; ENHANCER REGION; GENETICS; METABOLISM; MUTATION; SEX DIFFERENTIATION DISORDER; TESTIS;

MAMMALIA; MUS; VERTEBRATA;

46, XY DISORDERS OF SEX DEVELOPMENT; CELL LINE; ENHANCER ELEMENTS, GENETIC; HUMANS; MALE; MUTANT PROTEINS; MUTATION; ORGAN SPECIFICITY; SEX-DETERMINING REGION Y PROTEIN; SOX9 TRANSCRIPTION FACTOR; STEROIDOGENIC FACTOR 1; TESTIS; TRANS-ACTIVATORS; UP-REGULATION;

EID: 79952607849     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0017751     Document Type: Article

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