Art

J-GLOBAL ID：200902265255189080   Reference number：04A0720976

Novel alternative splicing of human faciogenital dysplasia 1 gene

ヒト顔面生殖器形成異常遺伝子1の新型スプライシング

Author (4)： YANAGI K (Univ. the Ryukyus Graduate School of Medicine, Okinawa, JPN) ,  KANAME T (Univ. the Ryukyus Graduate School of Medicine, Okinawa, JPN) ,  CHINEN Y (Univ. the Ryukyus Graduate School of Medicine, Okinawa, JPN) ,  NARITOMI K (Univ. the Ryukyus Graduate School of Medicine, Okinawa, JPN)
Material： Congenital Anomalies  (先天異常)
Volume： 44  Issue： 3  Page： 137-141  Publication year： Sep. 2004 
JST Material Number： S0324A  ISSN： 0914-3505  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *multiple abnormality ,...
Semi thesaurus term： *alternative splicing ,...

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JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (17)：

• AARSKOG, D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970, 77, 856-861
• ESTRADA, L. FGD1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. Hum Mol Genet. 2001, 10, 485-495
• FRUMAN, DA. Phosphoinositide binding domains : Embracing 3-phosphate. Cell. 1999, 97, 817-820
• GORSKI, JL. Skeletal-specific expression of FGD1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY ; Aarskog syndrome). Dev Dyn. 2000, 218, 573-586
• HOU, P. FGD1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. Hum Mol Genet. 2003, 12, 1981-1993

Terms in the title (5)： ヒト ,  顔面 ,  生殖器 ,  遺伝子 ,  スプライシング