46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects B0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.
CXorf6 is a causative gene for hypospadias. / M. FUKAMI; Y. WADA; K. MIYABAYASHI; I. NISHINO; T. HASEGAWA; A. NORDENSKJOLD; G. CAMERINO; C. KRETZ; A. BUJ-BELLO; J. LAPORTE; G. YAMADA; K. MOROHASHI; T. OGATA. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 38:12(2006), pp. 1369-1371.
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Titolo: | CXorf6 is a causative gene for hypospadias. |
Autori: | |
Data di pubblicazione: | 2006 |
Rivista: | |
Citazione: | CXorf6 is a causative gene for hypospadias. / M. FUKAMI; Y. WADA; K. MIYABAYASHI; I. NISHINO; T. HASEGAWA; A. NORDENSKJOLD; G. CAMERINO; C. KRETZ; A. BUJ-BELLO; J. LAPORTE; G. YAMADA; K. MOROHASHI; T. OGATA. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 38:12(2006), pp. 1369-1371. |
Abstract: | 46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects B0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias. |
Handle: | http://hdl.handle.net/11571/102160 |
Appare nelle tipologie: | 1.1 Articolo in rivista |