Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation

Journal of Japanese Ophthalmological Society

Volumn 105, Issue 10, 2001, Pages 659-672

  Mashima, Yukihiko ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

Corneal dystrophy; Immunohistochemistry; Keratoepithelin; Mutation; TGFBI

Indexed keywords

TGFB1 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1;

CLASSIFICATION; CONGENITAL CORNEA DYSTROPHY; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MUTATION; PATHOLOGY; REVIEW;

CORNEAL DYSTROPHIES, HEREDITARY; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1;

EID: 0035490235     PISSN: 00290203     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, et al : Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nature Genet 15 : 247-251, 1997.
2. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF : cDNA cloning and sequence analysis of βig-h 3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β. DNA Cell Biol 7 : 511-522, 1992.
3. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M : cDNA from human ocular ciliary epithelium homologous to beta βig-h 3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 160 : 511-521, 1994.