Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu.
Am J Med Genet A
; 167A(8): 1851-8, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25900885
Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Non-coding variation in disorders of sex development.
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Testicular XX (SRY-Negative) Disorder of Sex Development in Cat.
A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs.
Recent findings on the genetics of disorders of sex development.
A case of campomelic dysplasia without sex reversal.