Literature DB >> 10218700

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

S Kawasaki1, K Nishida, A J Quantock, A Dota, K Bennett, S Kinoshita.   

Abstract

PURPOSE: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).
METHODS: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.
RESULTS: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.
CONCLUSION: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA.

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10218700     DOI： 10.1016/s0002-9394(98)00360-2

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  9 in total

1.  [Corneal dystrophies and molecular genetics. Results of current research reveal prospects for new therapeutic possibilities].

Authors:  H Witschel
Journal:  Ophthalmologe       Date:  2002-06       Impact factor: 1.059

2.  Unique TGFBI protein in lattice corneal dystrophy.

Authors:  Yu-Ping Han; Austin J Sim; Smita C Vora; Andrew J W Huang
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-28       Impact factor: 4.799

3.  A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

Authors:  Ping Yu; Yangshun Gu; Yuehong Yang; Xiaoyi Yan; Lili Chen; Zhen Ge; Ming Qi; Jianmin Si; Lei Guo
Journal:  J Genet       Date:  2006-04       Impact factor: 1.166

4.  Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies.

Authors:  K Nishida; A J Quantock; A Dota; N H Choi-Miura; S Kinoshita
Journal:  Br J Ophthalmol       Date:  1999-10       Impact factor: 4.638

5.  TGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell line.

Authors:  Vivek S Yellore; Sylvia A Rayner; Anthony J Aldave
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-02-09       Impact factor: 4.799

6.  A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.

Authors:  Anthony J Aldave; Vivek S Yellore; Baris Sonmez; Nirit Bourla; Andrew K Salem; M Ali Khan; Sylvia A Rayner; Ben J Glasgow
Journal:  Arch Ophthalmol       Date:  2008-03

Review 7.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651

8.  A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Authors:  Catherine E Wheeldon; Betina H de Karolyi; Dipika V Patel; Trevor Sherwin; Charles N J McGhee; Andrea L Vincent
Journal:  Mol Vis       Date:  2008-08-18       Impact factor: 2.367

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

Authors:  Zhe Liu; Yi-qiang Wang; Qing-hua Gong; Li-xin Xie
Journal:  Mol Vis       Date:  2008-06-30       Impact factor: 2.367
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.