Literature DB >> 28387761

Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene.

M A Greiner1,2, D C Terveen1, J M Vislisel3, B R Roos1,2, J H Fingert1,2.   

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Year:  2017        PMID： 28387761      PMCID： PMC5558228          DOI： 10.1038/eye.2017.60

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  6 in total

1.  Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.

Authors:  Ralph J Hazlewood; Benjamin R Roos; Frances Solivan-Timpe; Robert A Honkanen; Lee M Jampol; Stephen C Gieser; Kacie J Meyer; Robert F Mullins; Markus H Kuehn; Todd E Scheetz; Young H Kwon; Wallace L M Alward; Edwin M Stone; John H Fingert
Journal:  Hum Mutat       Date:  2015-03       Impact factor: 4.878

2.  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

3.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Authors: 
Journal:  Cell       Date:  1993-03-26       Impact factor: 41.582

4.  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

5.  CTG18.1 Expansion in TCF4 Increases Likelihood of Transplantation in Fuchs Corneal Dystrophy.

Authors:  Allen O Eghrari; Shivakumar Vasanth; Jiangxia Wang; Farnoosh Vahedi; S Amer Riazuddin; John D Gottsch
Journal:  Cornea       Date:  2017-01       Impact factor: 2.651

6.  A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

Authors:  Eric D Wieben; Ross A Aleff; Nirubol Tosakulwong; Malinda L Butz; W Edward Highsmith; Albert O Edwards; Keith H Baratz
Journal:  PLoS One       Date:  2012-11-21       Impact factor: 3.240
  6 in total
  2 in total

1.  A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

Authors:  Hélène Choquet; Khanh K Thai; Jie Yin; Thomas J Hoffmann; Mark N Kvale; Yambazi Banda; Catherine Schaefer; Neil Risch; K Saidas Nair; Ronald Melles; Eric Jorgenson
Journal:  Nat Commun       Date:  2017-12-13       Impact factor: 14.919

2.  Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion.

Authors:  Timothy T Xu; Yi-Ju Li; Natalie A Afshari; Ross A Aleff; Tommy A Rinkoski; Sanjay V Patel; Leo J Maguire; Albert O Edwards; William L Brown; Michael P Fautsch; Eric D Wieben; Keith H Baratz
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-01-04       Impact factor: 4.799
  2 in total

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