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
Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.
Pathak D et al.
Dna and Cell Biology, 2024
Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.
Xie C et al.
Bmc Pregnancy and Childbirth, 2023
Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
Xia J et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021
A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene.
Xu K et al.
Translational Pediatrics, 2020
[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].
Xu ZY et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 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
[Partial DiGeorge syndrome caused by 22q11.2 typical microdeletion without cardiac defect: report of two cases].
He JX et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014
Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.
Shahid M et al.
Fertility and Sterility, 2008
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
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