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
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A et al.
American Journal of Human Genetics, 2019
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
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.
Racca JD et al.
The Journal of Biological Chemistry, 2014
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
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Stoppa-Vaucher S et al.
Clinical Genetics, 2012
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
Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.
Phillips NB et al.
The Journal of Biological Chemistry, 2011
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
Gimelli G et al.
American Journal of Medical Genetics. Part A, 2006
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
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan BK et al.
The Journal of Clinical Endocrinology 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
Two mutations in the HMG-box with very different structural consequences provide insights into the nature of binding to four-way junction DNA.
Teo SH et al.
The Embo Journal, 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