Associated Papers
Functional analysis of SRY variants in individuals with 46,XY differences of sex development.
Idris FP et al.
Molecular and Cellular Endocrinology, 2025
Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.
Racca JD et al.
The Journal of Biological Chemistry, 2024
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X et al.
Gene, 2018
Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
Racca JD et al.
The Journal of Biological Chemistry, 2016
Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.
Chen YS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R et al.
Plos One, 2012
Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
Rocha VB et al.
Fertility and Sterility, 2011
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Cunha JL et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2011
Unique signatures of natural background radiation on human Y chromosomes from Kerala, India.
Premi S et al.
Plos One, 2009
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1.
Matsuzawa-Watanabe Y et al.
Oncogene, 2003
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].
Harley VR et al.
Endocrine Reviews, 2003
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Mitchell CL et al.
Molecular Genetics and Metabolism, 2002
Association of Turner's syndrome and Swyer's syndrome in the same family.
Copelli SB et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2000
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
Okuhara K et al.
Journal of Human Genetics, 2000
Interaction of normal and mutant SRY proteins with DNA.
Rimini R et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 1995
Sex-reversing mutations affect the architecture of SRY-DNA complexes.
Pontiggia A et al.
The Embo Journal, 1994
DNA binding activity of recombinant SRY from normal males and XY females.
Harley VR et al.
Science (new York, N.y.), 1992