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
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Generation and mutational analysis of a transgenic mouse model of human SRY.
Thomson E et al.
Human Mutation, 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
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
Structural basis for nuclear import selectivity of pioneer transcription factor SOX2.
Jagga B et al.
Nature Communications, 2021
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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
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
Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box.
Racca JD et al.
The Journal of Biological Chemistry, 2014
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
Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.
Phillips NB et al.
The Journal of Biological Chemistry, 2011
Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.
Sim H et al.
Endocrinology, 2011
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
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
Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.
Gontan C et al.
The Journal of Cell Biology, 2009
Boys, girls and shuttling of SRY and SOX9.
Sim H et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Human SRY inhibits beta-catenin-mediated transcription.
Bernard P et al.
The International Journal of Biochemistry & Cell Biology, 2008
A new familial mutation (R133G) in the SRY gene.
Plaseska-Karanfilska D et al.
Clinical Genetics, 2007
Nuclear import properties of the sex-determining factor SRY.
Forwood JK et al.
Methods in Molecular Biology (clifton, N.j.), 2007
SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail.
Li B et al.
Journal of Molecular Biology, 2006
SRY and human sex determination: the basic tail of the HMG box functions as a kinetic clamp to augment DNA bending.
Phillips NB et al.
Journal of Molecular Biology, 2006
Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.
Sim H et al.
Molecular Endocrinology (baltimore, Md.), 2005
The ins and outs of transcriptional control: nucleocytoplasmic shuttling in development and disease.
Smith JM et al.
Trends in Genetics : Tig, 2004
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
Baldazzi L et al.
Clinical Genetics, 2003
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
Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.
Harley VR et al.
Proceedings of the National Academy of Sciences of the United States of America, 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