DNA Compression Caused by an Upstream Point Mutation
BioTechniques, 1998 We observed an apparent series of insertions and deletions beginning 5 bp downstream of an A→G silent transition in exon 1 of the tumor necrosis factor receptor 1 gene.
Brian G. Weinshenker +3 more
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Development and Application of EST-SSR Markers in Cephalotaxus oliveri From Transcriptome Sequences
Frontiers in Genetics, 2021 Cephalotaxus oliveri is an endemic conifer of China, which has medicinal and ornamental value. However, the limited molecular markers and genetic information are insufficient for further genetic studies of this species.
Hanjing Liu +5 more
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Trinucleotide repeats and neurodegenerative disease [PDF]
Brain, 2004 Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the past decade. Genetic definition has allowed subclassification into translated polyglutamine diseases, which are due to CAG repeat expansions, and a more heterogeneous group in which the trinucleotide repeat remains untranslated.
C. M. Everett, Nicholas W. Wood
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In Silico Retrieving of Opium Poppy (Papaver Somniferum L.) Microsatellites
Agriculture, 2015 Repetitive tandem sequences were retrieved within nucleotide sequences of opium poppy (Papaver somniferum L.) genomic DNA available in the GenBank® database.
Masárová Veronika +2 more
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Mechanism of Repeat-Associated MicroRNAs in Fragile X Syndrome
Neural Plasticity, 2012 The majority of the human genome is comprised of non-coding DNA, which frequently contains redundant microsatellite-like trinucleotide repeats. Many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs) such as fragile
Karen Kelley +2 more
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Stem Cell Research, 2021 IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide CAG repeats in the TBP (TATA-binding protein) gene on chromosome 6q27.
L.D. Shuvalova +9 more
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A Variable Polyglutamine Repeat Affects Subcellular Localization and Regulatory Activity of a Populus ANGUSTIFOLIA Protein. [PDF]
, 2018 Polyglutamine (polyQ) stretches have been reported to occur in proteins across many organisms including animals, fungi and plants. Expansion of these repeats has attracted much attention due their associations with numerous human diseases including ...
Barry, Kerrie +12 more
core +1 more source
CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function.
André, Laurène M. +11 more
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Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
Annals of Movement Disorders, 2020 DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner.
Pooja Sharma +10 more
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DNA repair in the trinucleotide repeat disorders [PDF]
The Lancet Neurology, 2017 Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide expansions, and most have no disease-modifying treatments.
Jones, L, Houlden, H, Tabrizi, SJ
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