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Results: 1 to 20 of 41

1.

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB.

Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279.

PMID:
24425855
[PubMed - indexed for MEDLINE]
2.

Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides.

Kato Y, Yagi H, Kaji Y, Oshika T, Goto Y.

J Biol Chem. 2013 Aug 30;288(35):25109-18. doi: 10.1074/jbc.M113.477695. Epub 2013 Jul 16.

PMID:
23861389
[PubMed - indexed for MEDLINE]
3.

New mode of treatment for lattice corneal dystrophy type I: corneal epithelial debridement and fibronectin eye drops.

Morita Y, Chikama T, Yamada N, Morishige N, Sonoda KH, Nishida T.

Jpn J Ophthalmol. 2012 Jan;56(1):26-30. doi: 10.1007/s10384-011-0104-5. Epub 2011 Nov 12.

PMID:
22080335
[PubMed - indexed for MEDLINE]
4.

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Huo YN, Yao YF, Yu P.

J Zhejiang Univ Sci B. 2011 Sep;12(9):687-93. doi: 10.1631/jzus.B1100011.

PMID:
21887843
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Long Y, Gu YS, Han W, Li XY, Yu P, Qi M.

J Zhejiang Univ Sci B. 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154.

PMID:
21462384
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Destruction of amyloid fibrils of keratoepithelin peptides by laser irradiation coupled with amyloid-specific thioflavin T.

Ozawa D, Kaji Y, Yagi H, Sakurai K, Kawakami T, Naiki H, Goto Y.

J Biol Chem. 2011 Mar 25;286(12):10856-63. doi: 10.1074/jbc.M111.222901. Epub 2011 Feb 7.

PMID:
21300800
[PubMed - indexed for MEDLINE]
Free PMC Article
7.
8.

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Ma K, Liu G, Yang Y, Yu M, Sui R, Yu W, Chen X, Deng Y, Yan N, Cao G, Liu X.

Mol Vis. 2010 Mar 31;16:556-61.

PMID:
20360992
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

Zhang C, Zeng G, Lin H, Li D, Zhao L, Zhou N, Qi Y.

Mol Vis. 2009 Nov 28;15:2498-502.

PMID:
19956413
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Liu Z, Wang YQ, Gong QH, Xie LX.

Mol Vis. 2008 Jun 30;14:1234-9.

PMID:
18615206
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P, Vogel M, Diaz JM, Romero MP, Herrera L.

Mol Vis. 2008 May 7;14:829-35.

PMID:
18470323
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, Yenchitsomanus PT, Trinavarat A, Srisawat C; Study Group.

Jpn J Ophthalmol. 2006 Sep-Oct;50(5):403-8.

PMID:
17013691
[PubMed - indexed for MEDLINE]
13.

First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria.

Capoluongo E, De Benedetti G, Concolino P, Sepe M, Ambu R, Faa G, Sciandra F, Santonocito C, D'Alberto A, Caselli M, Brancaccio A.

Eur J Ophthalmol. 2005 Nov-Dec;15(6):804-8.

PMID:
16329070
[PubMed - indexed for MEDLINE]
14.

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

El-Ashry MF, Abd El-Aziz MM, Ficker LA, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

Eye (Lond). 2004 Jul;18(7):723-8.

PMID:
15017378
[PubMed - indexed for MEDLINE]
15.

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.

Yoshida S, Yoshida A, Nakao S, Emori A, Nakamura T, Fujisawa K, Kumano Y, Ishibashi T.

Am J Ophthalmol. 2004 Mar;137(3):586-8.

PMID:
15013897
[PubMed - indexed for MEDLINE]
16.

A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP.

Am J Ophthalmol. 2003 Nov;136(5):872-8.

PMID:
14597039
[PubMed - indexed for MEDLINE]
17.

A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I.

Sakimoto T, Kanno H, Shoji J, Kashima Y, Nakagawa S, Miwa S, Sawa M.

Jpn J Ophthalmol. 2003 Jan-Feb;47(1):13-7.

PMID:
12586172
[PubMed - indexed for MEDLINE]
18.

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.

Yoshida S, Kumano Y, Yoshida A, Hisatomi T, Matsui H, Nishida T, Ishibashi T, Matsui T.

Jpn J Ophthalmol. 2002 Jul-Aug;46(4):469-71.

PMID:
12225829
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy.

Hirano K, Kojima T, Nakamura M, Hotta Y.

Cornea. 2001 Jul;20(5):530-3.

PMID:
11413412
[PubMed - indexed for MEDLINE]

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