Literature DB >> 24138036

Fuchs endothelial cornea dystrophy: a review of the genetics behind disease development.

Cecily E Hamill1, Thore Schmedt, Ula Jurkunas.   

Abstract

Fuchs dystrophy represents the most common form of endothelial dystrophy and is a significant cause of visual impairment. The cause of Fuchs dystrophy is a complicated combination of both genetic and environmental factors. Understanding the underlying causes of the disease can potentially lead to new medical treatments preventing loss of vision.

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Mesh：

Year:  2013        PMID： 24138036      PMCID： PMC3997056          DOI： 10.3109/08820538.2013.825283

Source DB:  PubMed          Journal:  Semin Ophthalmol        ISSN： 0882-0538            Impact factor:   1.975


  48 in total

1.  Inhibition of endothelial cell activation by bHLH protein E2-2 and its impairment of angiogenesis.

Authors:  Aya Tanaka; Fumiko Itoh; Koichi Nishiyama; Toshiaki Takezawa; Hiroki Kurihara; Susumu Itoh; Mitsuyasu Kato
Journal:  Blood       Date:  2010-03-15       Impact factor: 22.113

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.  A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.

Authors:  T S Breschel; M G McInnis; R L Margolis; G Sirugo; B Corneliussen; S G Simpson; F J McMahon; D F MacKinnon; J F Xu; N Pleasant; Y Huo; R G Ashworth; C Grundstrom; T Grundstrom; K K Kidd; J R DePaulo; C A Ross
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

4.  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

Review 5.  Fuchs endothelial corneal dystrophy.

Authors:  Hussain Elhalis; Behrooz Azizi; Ula V Jurkunas
Journal:  Ocul Surf       Date:  2010-10       Impact factor: 5.033

Review 6.  HLH proteins, fly neurogenesis, and vertebrate myogenesis.

Authors:  Y N Jan; L Y Jan
Journal:  Cell       Date:  1993-12-03       Impact factor: 41.582

Review 7.  Structure and function of helix-loop-helix proteins.

Authors:  C Murre; G Bain; M A van Dijk; I Engel; B A Furnari; M E Massari; J R Matthews; M W Quong; R R Rivera; M H Stuiver
Journal:  Biochim Biophys Acta       Date:  1994-06-21

8.  Prevalence of and risk factors for cornea guttata in a population-based study in a southwestern island of Japan: the Kumejima study.

Authors:  Akiko Higa; Hiroshi Sakai; Shoichi Sawaguchi; Aiko Iwase; Atsuo Tomidokoro; Shiro Amano; Makoto Araie
Journal:  Arch Ophthalmol       Date:  2011-03

9.  E2-2 protein and Fuchs's corneal dystrophy.

Authors:  Keith H Baratz; Nirubol Tosakulwong; Euijung Ryu; William L Brown; Kari Branham; Wei Chen; Khoa D Tran; Katharina E Schmid-Kubista; John R Heckenlively; Anand Swaroop; Goncalo Abecasis; Kent R Bailey; Albert O Edwards
Journal:  N Engl J Med       Date:  2010-08-25       Impact factor: 91.245

10.  B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

Authors:  Y Zhuang; P Cheng; H Weintraub
Journal:  Mol Cell Biol       Date:  1996-06       Impact factor: 4.272
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  13 in total

Review 1.  Biomechanical relationships between the corneal endothelium and Descemet's membrane.

Authors:  Maryam Ali; VijayKrishna Raghunathan; Jennifer Y Li; Christopher J Murphy; Sara M Thomasy
Journal:  Exp Eye Res       Date:  2016-09-14       Impact factor: 3.467

2.  In Vivo Confocal Microscopy Shows Alterations in Nerve Density and Dendritiform Cell Density in Fuchs' Endothelial Corneal Dystrophy.

Authors:  Shruti Aggarwal; Bernardo M Cavalcanti; Laura Regali; Andrea Cruzat; Monique Trinidad; Candice Williams; Ula V Jurkunas; Pedram Hamrah
Journal:  Am J Ophthalmol       Date:  2018-09-06       Impact factor: 5.258

Review 3.  Epigenetic regulation of anterior segment diseases and potential therapeutics.

Authors:  Eric Chen; Kelley Bohm; Mark Rosenblatt; Kai Kang
Journal:  Ocul Surf       Date:  2020-04-25       Impact factor: 5.033

Review 4.  Imaging the Corneal Endothelium in Fuchs Corneal Endothelial Dystrophy.

Authors:  Stephan Ong Tone; Ula Jurkunas
Journal:  Semin Ophthalmol       Date:  2019-06-19       Impact factor: 1.975

5.  Regional variability in corneal endothelial cell density between guttae and non-guttae areas in Fuchs endothelial corneal dystrophy.

Authors:  Stephan Ong Tone; Matthew James Bruha; Myriam Böhm; Christina Prescott; Ula Jurkunas
Journal:  Can J Ophthalmol       Date:  2019-06-17       Impact factor: 1.882

6.  TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

Authors:  Abraham Kuot; Alex W Hewitt; Grant R Snibson; Emmanuelle Souzeau; Richard Mills; Jamie E Craig; Kathryn P Burdon; Shiwani Sharma
Journal:  PLoS One       Date:  2017-08-23       Impact factor: 3.240

7.  Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy.

Authors:  Emily Khuc; Russell Bainer; Marie Wolf; Selene M Clay; Daniel J Weisenberger; Jacquelyn Kemmer; Valerie M Weaver; David G Hwang; Matilda F Chan
Journal:  PLoS One       Date:  2017-04-06       Impact factor: 3.240

Review 8.  Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Authors:  Stephan Ong Tone; Viridiana Kocaba; Myriam Böhm; Adam Wylegala; Tomas L White; Ula V Jurkunas
Journal:  Prog Retin Eye Res       Date:  2020-05-08       Impact factor: 21.198

9.  In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy.

Authors:  Sara M Thomasy; Dennis E Cortes; Alyssa L Hoehn; Allison C Calderon; Jennifer Y Li; Christopher J Murphy
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-07-01       Impact factor: 4.799

Review 10.  Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Authors:  Xuerui Liu; Tao Zheng; Chuchu Zhao; Yi Zhang; Hanruo Liu; Liyuan Wang; Ping Liu
Journal:  Eye Vis (Lond)       Date:  2021-06-15
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