Results 71 to 80 of about 585,191 (278)
Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. [PDF]
PLoS Genetics, 2011 Repetitive DNA elements are mutational hotspots in the genome, and their instability is linked to various neurological disorders and cancers. Although it is known that expanded trinucleotide repeats can interfere with DNA replication and repair, the ...
Rangapriya Sundararajan +1 more
doaj +1 more source
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M. +3 more
core +1 more source
GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]
PLoS ONE, 2014 Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan +3 more
doaj +1 more source
, 2007 We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos +48 more
core +1 more source
The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core +1 more source
FEBS Open Bio, EarlyView.Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah +8 more
wiley +1 more source
Journal of Biological Chemistry, 2012 Background: Slipped-DNAs are mutagenic intermediates in disease-causing trinucleotide repeat instability; their processing is not well understood. Results: MutLα is required to repair single short slip-outs and enhances repair of clustered slip-outs ...
G. Panigrahi +3 more
semanticscholar +1 more source
Spinocerebellar ataxia 12 patients have better quality of life than spinocerebellar ataxia 1 and 2
Annals of Indian Academy of Neurology, 2022 Background: Spinocerebellar ataxia is a neurodegenerative disease. Information on comparative assessment of quality of life (QoL) among SCAs, particularly SCA 12, is scarce. We aimed to compare health-related QoL in SCA 1, 2 and 12. Methods: We conducted
Surekha Dabla +9 more
doaj +1 more source
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett +8 more
wiley +1 more source