KEGG   VARIANT: 7040v2
Entry
7040v2                      Variant                                
Name
TGFB1 gain-of-function mutation
Type
Gain of function
Gene
TGFB1  transforming growth factor beta 1 [KO:K13375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190180
Network
nt06548  Integrin signaling
Disease
H00218  Cystic fibrosis
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
N Engl J Med 353:1443-53 (2005)
DOI:10.1056/NEJMoa051469
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
Am J Med Genet A 127A:104-7 (2004)
DOI:10.1002/ajmg.a.20671
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
Nat Genet 26:19-20 (2000)
DOI:10.1038/79128
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