Literature DB >> 16809844

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

Ping Yu1, Yangshun Gu, Yuehong Yang, Xiaoyi Yan, Lili Chen, Zhen Ge, Ming Qi, Jianmin Si, Lei Guo.   

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Year:  2006        PMID： 16809844     DOI： 10.1007/bf02728974

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  16 in total

1.  Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

Authors:  N T Ha; K Fujiki; Y Hotta; K Nakayasu; A Kanai
Journal:  Am J Ophthalmol       Date:  2000-07       Impact factor: 5.258

2.  Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.

Authors:  Y Mashima; S Yamamoto; Y Inoue; M Yamada; M Konishi; H Watanabe; N Maeda; Y Shimomura; S Kinoshita
Journal:  Am J Ophthalmol       Date:  2000-10       Impact factor: 5.258

3.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

4.  Mutation hot spots in 5q31-linked corneal dystrophies.

Authors:  E Korvatska; F L Munier; A Djemaï; M X Wang; B Frueh; A G Chiou; S Uffer; E Ballestrazzi; R E Braunstein; R K Forster; W W Culbertson; H Boman; L Zografos; D F Schorderet
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

5.  Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

Authors:  Kaoru Tsujikawa; Motokazu Tsujikawa; Shuji Yamamoto; Takashi Fujikado; Yasuo Tano
Journal:  Am J Med Genet       Date:  2002-11-15

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

Authors:  S Yamamoto; M Okada; M Tsujikawa; Y Shimomura; K Nishida; Y Inoue; H Watanabe; N Maeda; H Kurahashi; S Kinoshita; Y Nakamura; Y Tano
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

7.  A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Authors:  H Stewart; G C Black; D Donnai; R E Bonshek; J McCarthy; S Morgan; M J Dixon; A A Ridgway
Journal:  Ophthalmology       Date:  1999-05       Impact factor: 12.079

8.  BIGH3 mutation spectrum in corneal dystrophies.

Authors:  Francis L Munier; Beatrice E Frueh; Philippe Othenin-Girard; Sylvie Uffer; Pascal Cousin; Ming X Wang; Elise Héon; Graeme C M Black; Maria A Blasi; Emilio Balestrazzi; Birgit Lorenz; Rafael Escoto; Rafael Barraquer; Maria Hoeltzenbein; Balder Gloor; Maurizio Fossarello; Arun D Singh; Yvan Arsenijevic; Léonidas Zografos; Daniel F Schorderet
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-04       Impact factor: 4.799

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

Authors:  Shigeo Yoshida; Yuji Kumano; Ayako Yoshida; Toshio Hisatomi; Hiroyasu Matsui; Teruo Nishida; Tatsuro Ishibashi; Takao Matsui
Journal:  Jpn J Ophthalmol       Date:  2002 Jul-Aug       Impact factor: 2.447

10.  H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.

Authors:  H M Chau; N T Ha; L X Cung; T K Thanh; K Fujiki; A Murakami; A Kanai
Journal:  Br J Ophthalmol       Date:  2003-06       Impact factor: 4.638
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  6 in total

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

Authors:  Ya-nan Huo; Yu-feng Yao; Ping Yu
Journal:  J Zhejiang Univ Sci B       Date:  2011-09       Impact factor: 3.066

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

Authors:  Yan Long; Yang-Shun Gu; Wei Han; Xiu-Yi Li; Ping Yu; Ming Qi
Journal:  J Zhejiang Univ Sci B       Date:  2011-04       Impact factor: 3.066

Review 3.  Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Authors:  Juhua Yang; Xiaoli Han; Dinggou Huang; Lin Yu; Yihua Zhu; Yi Tong; Binliang Zhu; Chuanbao Li; Mingshe Weng; Xu Ma
Journal:  Mol Vis       Date:  2010-06-30       Impact factor: 2.367

Review 4.  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

5.  Investigation of the influence of Arg555Trp and Thr538Pro TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum stress.

Authors:  Miaomiao Zhu; Ping Yu; Bo Jiang; Yangshun Gu
Journal:  Mol Vis       Date:  2012-05-03       Impact factor: 2.367

6.  Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Authors:  Emmanuelle Souzeau; Owen M Siggs; Sean Mullany; Joshua M Schmidt; Mark M Hassall; Andrew Dubowsky; Angela Chappell; James Breen; Haae Bae; Jillian Nicholl; Johanna Hadler; Lisa S Kearns; Sandra E Staffieri; Alex W Hewitt; David A Mackey; Aanchal Gupta; Kathryn P Burdon; Sonja Klebe; Jamie E Craig; Richard A Mills
Journal:  Mol Genet Genomic Med       Date:  2022-08-19       Impact factor: 2.473
  6 in total

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