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
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.
Zhytnik L et al.
Bmc Pregnancy and Childbirth, 2022
Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.
Chen YS et al.
Frontiers in Endocrinology, 2022
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
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
70-kDa heat shock cognate protein hsc70 mediates calmodulin-dependent nuclear import of the sex-determining factor SRY.
Kaur G et al.
The Journal of Biological Chemistry, 2013
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Arboleda VA et al.
Clinical Genetics, 2013
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
Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation.
Premi S et al.
Molecular Human Reproduction, 2006
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
Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.
Li B et al.
The Journal of Biological Chemistry, 2001
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