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Literature DB >> 17057173

Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.

J E Urquhart, S Biswas, G C M Black, F L Munier, J Sutphin.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Collagen Type VIII

Year: 2006 PMID： 17057173 PMCID： PMC1857482 DOI： 10.1136/bjo.2006.093385

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

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10 in total

1. A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.

Authors: Satoko Shimizu; Charles Krafchak; Nobuo Fuse; Michael P Epstein; Miriam T Schteingart; Alan Sugar; Maya Eibschitz-Tsimhoni; Catherine A Downs; Frank Rozsa; Edward H Trager; David M Reed; Michael Boehnke; Sayoko E Moroi; Julia E Richards
Journal: Am J Med Genet A Date: 2004-11-01 Impact factor: 2.802

2. Posterior polymorphous dystrophy--a histopathologic presentation.

Authors: K Matsumoto; P A Weber; T A Makley
Journal: Ann Ophthalmol Date: 1988-10

3. The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo.

Authors: N S Greenhill; B M Rüger; Q Hasan; P F Davis
Journal: Matrix Biol Date: 2000-02 Impact factor: 11.583

4. Fuchs' corneal dystrophy. A clinicopathologic study of the variation in corneal edema.

Authors: M M Rodrigues; J H Krachmer; J Hackett; R Gaskins; A Halkias
Journal: Ophthalmology Date: 1986-06 Impact factor: 12.079

5. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Authors: S Biswas; F L Munier; J Yardley; N Hart-Holden; R Perveen; P Cousin; J E Sutphin; B Noble; M Batterbury; C Kielty; A Hackett; R Bonshek; A Ridgway; D McLeod; V C Sheffield; E M Stone; D F Schorderet; G C Black
Journal: Hum Mol Genet Date: 2001-10-01 Impact factor: 6.150

6. Linkage of posterior polymorphous corneal dystrophy to 20q11.

Authors: E Héon; W D Mathers; W L Alward; R W Weisenthal; S L Sunden; J A Fishbaugh; C M Taylor; J H Krachmer; V C Sheffield; E M Stone
Journal: Hum Mol Genet Date: 1995-03 Impact factor: 6.150

7. Classification of corneal endothelial disorders based on neural crest origin.

Authors: C F Bahn; H F Falls; G A Varley; R F Meyer; H F Edelhauser; W M Bourne
Journal: Ophthalmology Date: 1984-06 Impact factor: 12.079

8. Type VIII collagen: heterotrimeric chain association.

Authors: C Illidge; C Kielty; A Shuttleworth
Journal: Int J Biochem Cell Biol Date: 2001-05 Impact factor: 5.085

9. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.

Authors: John D Gottsch; Olof H Sundin; Sammy H Liu; Albert S Jun; Karl W Broman; Walter J Stark; Elizabeth C L Vito; Amol K Narang; John M Thompson; Malcolm Magovern
Journal: Invest Ophthalmol Vis Sci Date: 2005-06 Impact factor: 4.799

10. The composition of wide-spaced collagen in normal and diseased Descemet's membrane.

Authors: S G Levy; J Moss; H Sawada; P J Dopping-Hepenstal; A C McCartney
Journal: Curr Eye Res Date: 1996-01 Impact factor: 2.424