A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma-Reference-Cited by-同舟云学术

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Published:2009-06-10 Issue:12 Volume:17 Page:1642-1649
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hersmus Remko,de Leeuw Bertie HCGM,Stoop Hans,Bernard Pascal,van Doorn Helena C,Brüggenwirth Hennie T,Drop Stenvert LS,Oosterhuis J Wolter,Harley Vincent R,Looijenga Leendert HJ

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200996.pdf

Reference43 articles.

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3. Sekido R, Bar I, Narvaez V, Penny G, Lovell-Badge R : SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Dev Biol 2004; 274: 271–279.

4. Wilhelm D, Martinson F, Bradford S et al: Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination. Dev Biol 2005; 287: 111–124.

5. Sekido R, Lovell-Badge R : Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 2008; 453: 930–934.

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