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
Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.
Chen YS et al.
Frontiers in Endocrinology, 2022
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
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
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
Boys, girls and shuttling of SRY and SOX9.
Sim H et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Human SRY inhibits beta-catenin-mediated transcription.
Bernard P et al.
The International Journal of Biochemistry & Cell Biology, 2008
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Mitchell CL et al.
Molecular Genetics and Metabolism, 2002
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
Sry and Sox9: mammalian testis-determining genes.
Koopman P
Cellular and Molecular Life Sciences : Cmls, 1999
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
Dörk T et al.
Human Mutation, 1998
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
A familial mutation in the testis-determining gene SRY shared by both sexes.
Jäger RJ et al.
Human Genetics, 1992
DNA binding activity of recombinant SRY from normal males and XY females.
Harley VR et al.
Science (new York, N.y.), 1992
Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.
Assumpção JG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
Maier EM et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0