Associated Papers
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. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL et al.
Clinical Endocrinology, 2018
[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis].
Santalha M et al.
Anales De Pediatria (barcelona, Spain : 2003), 2014
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Stoppa-Vaucher S et al.
Clinical Genetics, 2012
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
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
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P et al.
Molecular Human Reproduction, 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
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.
Shahid M et al.
Bmc Medical Genetics, 2010
The male-determining gene SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2.
Sato Y et al.
Molecular and Cellular Biochemistry, 2010
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.
Isidor B et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Human SRY inhibits beta-catenin-mediated transcription.
Bernard P et al.
The International Journal of Biochemistry & Cell Biology, 2008
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
Paris F et al.
Fertility and Sterility, 2007
Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.
Shahid M et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.
Shahid M et al.
Molecular Human Reproduction, 2004
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
Assumpção JG et al.
Journal of Molecular Medicine (berlin, Germany), 2002