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PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e49083 - e49083
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.... 
PATHOGENESIS | APOPTOSIS | CTG REPEAT | UNFOLDED PROTEIN RESPONSE | MENTAL-RETARDATION | ENDOTHELIAL DYSTROPHY | MULTIDISCIPLINARY SCIENCES | INHERITANCE | PITT-HOPKINS-SYNDROME | MISSENSE MUTATIONS | HAPLOINSUFFICIENCY | Blotting, Southern | Fuchs' Endothelial Dystrophy - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Transcription Factor 4 | Humans | Middle Aged | Molecular Sequence Data | Male | Transcription Factors - genetics | Sequence Analysis, DNA | Case-Control Studies | Genome, Human - genetics | Microsatellite Repeats - genetics | Base Sequence | Alleles | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Aged, 80 and over | Trinucleotide Repeat Expansion - genetics | Female | Aged | Chromosomes, Human, Pair 18 - genetics | Genetic aspects | Single nucleotide polymorphisms | Genes | Analysis | Cornea | Transcription factors | Laboratories | Intellectual disabilities | Pathogenesis | Transplantation | Biochemistry | Single-nucleotide polymorphism | Kinases | Gene sequencing | Proteins | Primers | DNA repeat expansion | Southern blotting | Expansion | Chromosomes | Deoxyribonucleic acid--DNA | Edema | Health risks | Data processing | Patients | Endothelium | White blood cells | Corneal dystrophy | Dystrophy | Genetic testing | Molecular biology | DNA sequencing | Apoptosis | Polymorphism | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 08/2019, Volume 60, Issue 10, pp. 3636 - 3643
CTG trinucleotide repeat (TNR) expansion in an intron of the TCF4 gene is the most common genetic variant associated with Fuchs' endothelial corneal dystrophy... 
FECD | OPHTHALMOLOGY | trinucleotide repeat expansion disease | TCF4 | Fuchs endothelial corneal dystrophy | cornea | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2017, Volume 58, Issue 1, pp. 343 - 352
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 3053 - 3057
PURPOSE. RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK)... 
Fuchs’ endothelial corneal dystrophy | Cornea | Corneal dystrophies | Corneal genetics | Myotonic dystrophy | POPULATION | cornea | CHINESE | Fuchs' endothelial corneal dystrophy | TRINUCLEOTIDE REPEAT EXPANSION | TCF4 GENE | myotonic dystrophy | POLYMORPHISMS | CTG18.1 | OPHTHALMOLOGY | ASSOCIATION | corneal dystrophies | THICKNESS | corneal genetics | RNA FOCI | Index Medicus
Journal Article
Journal Article
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 03/2018, Volume 9, pp. 147 - 147
Objective: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe... 
Distal myopathy | SQSTM | Myofibrillar myopathy | Respiratory insufficiency | Rimmed vacuoles | TIA | TIA1 | myofibrillar myopathy | AMYOTROPHIC-LATERAL-SCLEROSIS | distal myopathy | respiratory insufficiency | NEUROSCIENCES | CLINICAL NEUROLOGY | GENETIC-VARIATION | PAGETS-DISEASE | MUTATIONS | rimmed vacuoles | SEQUENCING DATA | SQSTM1 | Muscle diseases | Research | Genetic variation | Health aspects
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2015, Volume 290, Issue 10, pp. 5979 - 5990
Background: Expansion of intronic (CTG.CAG)n repeats in TCF4 is found in most Fuchs endothelial corneal dystrophy (FECD) patients. Results: RNA foci... 
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 07/2015, Volume 56, Issue 8, p. 4865
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 09/2014, Volume 55, Issue 9, p. 6101
Journal Article
Sun Sentinel, 05/1985
PHOTOS (2) MAP (1); (Photo by Stephen Frink)Ross Power's sculpture garden, Treasures of Atlantis This artist's conception of Ross Nathan Power's stainless... 
Newspaper Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2019, Volume 60, Issue 2, pp. 779 - 786
PURPOSE. CTG trinucleotide repeat (TNR) expansion is frequently found in transcription factor 4 (TCF4) in Fuchs' endothelial corneal dystrophy (FECD), though... 
Fuchs’ endothelial corneal dystrophy | Trinucleotide repeat | TCF4 | FRATAXIN | PROTEIN | GENE | DISEASE | CTG18.1 | OPHTHALMOLOGY | Fuchs' endothelial corneal dystrophy | trinucleotide repeat | ATG RAN TRANSLATION | ASSOCIATION | Cornea
Journal Article