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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
De Sousa SM et al.
Bmc Endocrine Disorders, 2016
Amino acid function and docking site prediction through combining disease variants, structure alignments, sequence alignments, and molecular dynamics: a study of the HMG domain.
Prokop JW et al.
Bmc Bioinformatics, 2012
22536866 (PubMed )
Supplement: 1471-2105-13-S2-S3-S1.pdf
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
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
Canto P et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
Assumpção JG et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
Schäffler A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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