Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2019 Purpose 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).
Wieben ED +7 more
europepmc +2 more sources
Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs' Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion. [PDF]
Ophthalmol Sci, 2023 Objective: Seventy percent of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal nerve
Gillings M +8 more
europepmc +2 more sources
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. [PDF]
PLoS One, 2017 Lim GX +7 more
europepmc +3 more sources
Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich. [PDF]
Adv Biomed Res, 2021 Joz Abbasalian Z +2 more
europepmc +2 more sources
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. [PDF]
Genes (Basel), 2021 Tekendo-Ngongang C +3 more
europepmc +3 more sources
AP endonuclease 1 prevents trinucleotide repeat expansion via a novel mechanism during base excision repair. [PDF]
Nucleic Acids Res, 2015 Base excision repair (BER) of an oxidized base within a trinucleotide repeat (TNR) tract can lead to TNR expansions that are associated with over 40 human neurodegenerative diseases.
Beaver JM +5 more
europepmc +2 more sources
Validation of methylation-specific polymerase chain reaction method and evaluation of FMR1 gene pre-mutations in premature ovarian insufficiency [PDF]
مجله پزشکی دانشگاه علوم پزشکی تبریز, 2022 Background. Fragile X-associated premature ovarian insufficiency is clinically defined as a type of early ovarian failure with irregular menstrual cycles, increased follicle-stimulating hormone, premature menopause, and infertility.
Fatemeh Afkhami +3 more
doaj +1 more source
MutSβ promotes trinucleotide repeat expansion by recruiting DNA polymerase β to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis. [PDF]
Cell Res, 2016 Expansion of (CAG)•(CTG) repeats causes a number of familial neurodegenerative disorders. Although the underlying mechanism remains largely unknown, components involved in DNA mismatch repair, particularly mismatch recognition protein MutSβ (a MSH2-MSH3 ...
Guo J, Gu L, Leffak M, Li GM.
europepmc +2 more sources
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2014 PURPOSE We tested the association between two intronic polymorphisms (CTG18.1 and rs613872) in TCF4 and Fuchs' endothelial corneal dystrophy (FECD), and analyzed their segregation patterns in families.
Mootha VV, Gong X, Ku HC, Xing C.
europepmc +2 more sources
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]
, 2012 Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi +7 more
core +9 more sources