VARIANT: 7040v2 Help
Entry
Name
TGFB1 gain-of-function mutation
Type
Gain of function
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
H00434 Camurati-Engelmann disease
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
Reference
Authors
Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR
Title
Genetic modifiers of lung disease in cystic fibrosis.
Journal
Reference
Authors
Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K
Title
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
Journal
Reference
Authors
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K
Title
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Journal
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