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
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
Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.
Wang N et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
Andonova S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
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,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
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S et al.
The Journal of Biological Chemistry, 2001
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
Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G et al.
Cytogenetics and Cell Genetics, 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
Sex-reversing mutations affect the architecture of SRY-DNA complexes.
Pontiggia A et al.
The Embo Journal, 1994
A familial mutation in the testis-determining gene SRY shared by both sexes.
Jäger RJ et al.
Human Genetics, 1992