Literature DB >> 18024822

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

P Liskova1, Q Prescott, S S Bhattacharya, S J Tuft.   

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Year:  2007        PMID： 18024822      PMCID： PMC2095500          DOI： 10.1136/bjo.2007.115154

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


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  6 in total

1.  Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.

Authors:  John D Gottsch; Cheng Zhang; Olof H Sundin; W Robert Bell; Walter J Stark; W Richard Green
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-12       Impact factor: 4.799

2.  Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.

Authors:  Olof H Sundin; Albert S Jun; Karl W Broman; Sammy H Liu; Siobhan E Sheehan; Elizabeth C L Vito; Walter J Stark; John D Gottsch
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-01       Impact factor: 4.799

3.  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

4.  Corneal endothelial dystrophy. A study of 64 families.

Authors:  J H Krachmer; J J Purcell; C W Young; K D Bucher
Journal:  Arch Ophthalmol       Date:  1978-11

5.  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

6.  Inheritance of Fuchs' combined dystrophy.

Authors:  M Magovern; G R Beauchamp; J W McTigue; B S Fine; R C Baumiller
Journal:  Ophthalmology       Date:  1979-10       Impact factor: 12.079
  6 in total
  20 in total

1.  An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Authors:  Albert S Jun; Huan Meng; Naren Ramanan; Mario Matthaei; Shukti Chakravarti; Richard Bonshek; Graeme C M Black; Rhonda Grebe; Martha Kimos
Journal:  Hum Mol Genet       Date:  2011-10-14       Impact factor: 6.150

Review 2.  The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Authors:  Jie Zhang; Charles N J McGhee; Dipika V Patel
Journal:  Mol Diagn Ther       Date:  2019-02       Impact factor: 4.074

3.  Fuchs' corneal dystrophy.

Authors:  Allen O Eghrari; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2010-04

4.  The genetics of Fuchs' corneal dystrophy.

Authors:  Benjamin W Iliff; S Amer Riazuddin; John D Gottsch
Journal:  Expert Rev Ophthalmol       Date:  2012-08

5.  L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy.

Authors:  Huan Meng; Mario Matthaei; Narendrakumar Ramanan; Rhonda Grebe; Shukti Chakravarti; Caroline L Speck; Martha Kimos; Neeraj Vij; Charles G Eberhart; Albert S Jun
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-03-28       Impact factor: 4.799

6.  Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Authors:  Boomiraj Hemadevi; Muthiah Srinivasan; Jambulingam Arunkumar; Namperumalsamy V Prajna; Periasamy Sundaresan
Journal:  BMC Ophthalmol       Date:  2010-02-10       Impact factor: 2.209

7.  Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

Authors:  T Desronvil; D Logan-Wyatt; W Abdrabou; M Triana; R Jones; S Taheri; E Del Bono; L R Pasquale; M Olivier; J L Haines; B J Fan; J L Wiggs
Journal:  Mol Vis       Date:  2010-10-29       Impact factor: 2.367

Review 8.  Genetics of corneal endothelial dystrophies.

Authors:  Chitra Kannabiran
Journal:  J Genet       Date:  2009-12       Impact factor: 1.166

9.  Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.

Authors:  John M Gansner; Jonathan D Gitlin
Journal:  Dev Dyn       Date:  2008-12       Impact factor: 3.780

Review 10.  Corneal dystrophies.

Authors:  Gordon K Klintworth
Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123
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