Results 51 to 60 of about 26,757 (246)
New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]
, 1995 The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
core
, 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
Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington's disease gene carriers and healthy subjects : a cross-sectional study [PDF]
, 2007 BACKGROUND : Animal data and postmortem studies suggest a role of oxidative stress in the Huntington's disease (HD), but in vivo human studies have been scarce.
Babić, Tomislav +5 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque +7 more
wiley +1 more source
A trinucleotide repeat biosensor [PDF]
Nature Methods, 2005 A small-molecule ligand that binds to a (CAG)n hairpin repeat is the basis of a biosensor to detect repeat length, which may help diagnose trinucleotide repeat disease severity.
openaire +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
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Expansion of GAA trinucleotide repeats in mammals
Genomics, 2006 We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes (6 mammalian, 2 nonmammalian vertebrates, 4 arthropods, 4 fungi, and 1 each of nematode, amoebozoa,
Sanjay I. Bidichandani +4 more
openaire +3 more sources