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. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
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 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
22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1
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
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
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