Expandable DNA Repeat and Human Hereditary Disorders [PDF]
Journal of Kerman University of Medical Sciences, 2016 Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi +3 more
doaj +3 more sources
Variation within the Huntington's disease gene influences normal brain structure. [PDF]
PLoS ONE, 2012 Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau +9 more
doaj +6 more sources
Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS. [PDF]
Sci Rep, 2021 CGG tandem repeat expansion in the 5′-untranslated region of the fragile X mental retardation-1 (FMR1) gene leads to unusual nucleic acid conformations, hence causing genetic instabilities.
Ajjugal Y, Kolimi N, Rathinavelan T.
europepmc +2 more sources
Stabilizing Effects of Interruptions on Trinucleotide Repeat Expansions in Saccharomyces cerevisiae [PDF]
Molecular and Cellular Biology, 2000 In most trinucleotide repeat (TNR) diseases, the primary factor determining the likelihood of expansions is the length of the TNR. In some diseases, however, stable alleles contain one to three base pair substitutions that interrupt the TNR tract. The unexpected stability of these alleles compared to the frequent expansions of perfect TNRs suggested ...
Michael L Rolfsmeier, Robert S. Lahue
openaire +4 more sources
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. [PDF]
Invest Ophthalmol Vis Sci, 2023 Hu J +4 more
europepmc +2 more sources
Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases [PDF]
Nucleic Acids Research, 2010 CAG repeats occur predominantly in the coding regions of human genes, which suggests their functional importance. In some genes, these sequences can undergo pathogenic expansions leading to neurodegenerative polyglutamine (poly-Q) diseases.
Agnieszka Kiliszek +3 more
openalex +2 more sources
Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia [PDF]
Case Reports in Neurology, 2014 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by
Silvia Rota +8 more
doaj +3 more sources
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. [PDF]
Cornea, 2019 PURPOSE To investigate single nucleotide polymorphisms (SNPs) and trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene in a large cohort of German patients with Fuchs endothelial corneal dystrophy (FECD).
Okumura N +18 more
europepmc +2 more sources
Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy. [PDF]
PLoS One, 2019 Purpose To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs’ Endothelial Corneal Dystrophy (FECD). Methods This was a prospective cohort study.
Soh YQ +7 more
europepmc +2 more sources
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. [PDF]
Nucleic Acids Res, 2018 CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by gene editing with unprecedented precision. In the current proof-of-principle study, we explored the use of CRISPR/Cas9 for gene-editing in myotonic dystrophy type-1
Dastidar S +22 more
europepmc +2 more sources