Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg +3 more
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A universal mechanism ties genotype to phenotype in trinucleotide diseases.
PLoS Computational Biology, 2007 Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are cureless diseases associated with inheriting an abnormally large number of DNA trinucleotide repeats in a gene.
Shai Kaplan +2 more
doaj +1 more source
TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats
Cell Reports, 2018 Summary: Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington’s disease. Because expansions trigger the disease, contracting repeat length could be
Valentine Mosbach +4 more
doaj +1 more source
Positive Correlation between Androgen Receptor CAG Repeat Length and Metabolic Syndrome in a Korean Male Population [PDF]
The World Journal of Men's Health, 2018 Purpose: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains unclear, especially in Asian ...
Jong Wook Kim +5 more
doaj +1 more source
Androgen receptor polymorphisms and testicular cancer risk [PDF]
, 2015 Testicular cancer (TC) is currently the most common malignant solid tumour in Caucasian males aged 15-39 years. Epidemiological evidence suggests that its onset may be due to an imbalance in the action of steroidal sex hormones and their receptors.
CARLINI, TANIA +9 more
core +1 more source
Computational and Structural Biotechnology Journal, 2021 Pathogenic DNA secondary structures have been identified as a common and causative factor for expansion in trinucleotide, hexanucleotide, and other simple sequence repeats.
Feng Pan +6 more
doaj
Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]
, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek +38 more
core +3 more sources
Бюллетень сибирской медицины, 2021 Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene.
M. A. Nikitina +7 more
doaj +1 more source
Development and characterization of microsatellite markers for Chaeturichthys stigmatias (Actinopterygii: Gobiiformes: Gobiidae) based on restriction site-associated DNA sequencing (RAD-seq) [PDF]
Acta Ichthyologica et Piscatoria, 2022 Chaeturichthys stigmatias Richardson, 1844, a fish species of the family Gobiidae, is an offshore warm-temperate fish species and a dominant component of estuarine ecosystems.
Bingjie Chen +4 more
doaj +3 more sources
New functions of Ctf18-RFC in preserving genome stability outside its role in sister chromatid cohesion. [PDF]
PLoS Genetics, 2011 Expansion of DNA trinucleotide repeats causes at least 15 hereditary neurological diseases, and these repeats also undergo contraction and fragility. Current models to explain this genetic instability invoke erroneous DNA repair or aberrant replication ...
Lionel Gellon +6 more
doaj +1 more source