Literature DB >> 17638818

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

E N Hilton, G C M Black, F D C Manson, D F Schorderet, F L Munier.   

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Year:  2007        PMID： 17638818      PMCID： PMC1954832          DOI： 10.1136/bjo.2006.103283

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


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  7 in total

1.  BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences.

Authors:  T A Tatusova; T L Madden
Journal:  FEMS Microbiol Lett       Date:  1999-05-15       Impact factor: 2.742

Review 2.  Inherited corneal disease: the evolving molecular, genetic and imaging revolution.

Authors:  Andrea L Vincent; Dipika V Patel; Charles N J McGhee
Journal:  Clin Exp Ophthalmol       Date:  2005-06       Impact factor: 4.207

3.  Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

Authors:  H S Stewart; A E Ridgway; M J Dixon; R Bonshek; R Parveen; G Black
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

4.  Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

Authors:  F L Munier; E Korvatska; A Djemaï; D Le Paslier; L Zografos; G Pescia; D F Schorderet
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

5.  Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

Authors:  Tasha Y Tanhehco; David E Eifrig; Ivan R Schwab; Christopher J Rapuano; Gordon K Klintworth
Journal:  Arch Ophthalmol       Date:  2006-04

6.  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

7.  A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Authors:  Sandrine Boutboul; Graeme C M Black; John E Moore; Janet Sinton; Maurice Menasche; Francis L Munier; Laurent Laroche; Marc Abitbol; Daniel F Schorderet
Journal:  Hum Mutat       Date:  2006-06       Impact factor: 4.878
  7 in total
  3 in total

1.  A 48-year-old man presents with bilateral corneal deposits.

Authors:  Shaminder S Bhullar; Gerami D Seitzman
Journal:  Digit J Ophthalmol       Date:  2009-11-27

2.  Simultaneous transplantation of limbal stem cells may reduce recurrences of granular dystrophy after corneal transplantation: 2 long-term case reports.

Authors:  Stefan J Lang; Philipp Eberwein; Helga Reinshagen; Thomas Reinhard; Rainer Sundmacher
Journal:  Medicine (Baltimore)       Date:  2015-05       Impact factor: 1.889

3.  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
  3 in total

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