Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 126

1.

In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I.

Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A.

Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53.

PMID:
10873659
2.

BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.

Schmitt-Bernard CF, Chavanieu A, Herrada G, Subra G, Arnaud B, Demaille JG, Calas B, Argilés A.

Eur J Biochem. 2002 Nov;269(21):5149-56.

3.

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.

Hotta Y, Fujiki K, Ono K, Fujimaki T, Nakayasu K, Yamaguchi T, Kanai A.

Jpn J Ophthalmol. 1998 Nov-Dec;42(6):450-5.

PMID:
9886734
4.

Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.

Kawasaki S, Nishida K, Quantock AJ, Dota A, Bennett K, Kinoshita S.

Am J Ophthalmol. 1999 Apr;127(4):456-8.

PMID:
10218700
5.

Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I.

Takács L, Boross P, Tözser J, Módis L Jr, Tóth G, Berta A.

Exp Eye Res. 1998 Jun;66(6):739-45.

PMID:
9657906
6.

Gelatino-lattice corneal dystrophy: clinical features and mutational analysis.

Nakamura T, Nishida K, Dota A, Adachi W, Yamamoto S, Maeda N, Okada M, Kinoshita S.

Am J Ophthalmol. 2000 May;129(5):665-6.

PMID:
10844062
8.

Molecular properties of wild-type and mutant betaIG-H3 proteins.

Kim JE, Park RW, Choi JY, Bae YC, Kim KS, Joo CK, Kim IS.

Invest Ophthalmol Vis Sci. 2002 Mar;43(3):656-61.

PMID:
11867580
9.

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

Stix B, Leber M, Bingemer P, Gross C, Rüschoff J, Fändrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A, Röcken C.

Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1133-9.

PMID:
15790870
10.

Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.

Konishi M, Yamada M, Nakamura Y, Mashima Y.

Curr Eye Res. 2000 Nov;21(5):891-6.

PMID:
11262611
11.

Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses.

Dota A, Nishida K, Honma Y, Adachi W, Kawasaki S, Quantock AJ, Kinoshita S.

Am J Ophthalmol. 1998 Dec;126(6):832-3.

PMID:
9860011
12.

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

Korvatska E, Munier FL, Chaubert P, Wang MX, Mashima Y, Yamada M, Uffer S, Zografos L, Schorderet DF.

Invest Ophthalmol Vis Sci. 1999 Sep;40(10):2213-9.

PMID:
10476785
13.

Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein.

Korvatska E, Henry H, Mashima Y, Yamada M, Bachmann C, Munier FL, Schorderet DF.

J Biol Chem. 2000 Apr 14;275(15):11465-9.

14.

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.

Hirano K, Hotta Y, Fujiki K, Kanai A.

Br J Ophthalmol. 2000 Jun;84(6):583-5.

15.

[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].

Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI.

Klin Monbl Augenheilkd. 2005 Dec;222(12):1017-23. German.

PMID:
16380889
17.

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1.

Hellenbroich Y, Tzivras G, Neppert B, Schwinger E, Zühlke C.

Ophthalmologica. 2001 Nov-Dec;215(6):444-7.

PMID:
11741113
18.

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.

Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, Kato T, Uesugi Y, Ha NT, Endo S, Ishida N, Lu WN, Kanai A.

Cornea. 2000 Nov;19(6):842-5.

PMID:
11095060
19.

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y.

Am J Hum Genet. 1998 Mar;62(3):719-22. No abstract available.

20.

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

Takács L, Losonczy G, Matesz K, Balogh I, Sohajda Z, Tóth K, Fazakas F, Vereb G, Berta A.

Mol Vis. 2007 Oct 18;13:1976-83.

PMID:
17982422
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk