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 novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
Raveendran SK et al.
Andrologia, 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
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
Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
Rocha VB et al.
Fertility and Sterility, 2011
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Cunha JL et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2011
Unique signatures of natural background radiation on human Y chromosomes from Kerala, India.
Premi S et al.
Plos One, 2009
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