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
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
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
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
Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
Racca JD et al.
The Journal of Biological Chemistry, 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
Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.
Chen YS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism.
Czech DP et al.
Journal of Neurochemistry, 2012
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors.
Gontan C et al.
The Journal of Cell Biology, 2009
Nuclear import properties of the sex-determining factor SRY.
Forwood JK et al.
Methods in Molecular Biology (clifton, N.j.), 2007
A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal.
Argentaro A et al.
The Journal of Biological Chemistry, 2003
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
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S 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
Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.
Südbeck P et al.
The Journal of Biological Chemistry, 1997