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
39168182 (PubMed )
Supplement: mmc1.docx
A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
Ambulkar PS et al.
Andrologia, 2021
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
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
22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1
Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.
Kaur G et al.
The Biochemical Journal, 2010
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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