Results 21 to 30 of about 26,354 (249)
International Journal of Reproductive BioMedicine, 2022 Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which affects about 15-20% of women of reproductive age. The most important etiopathogenesis factor in its incidence is hyperandrogenism; over 70 candidate genes are known to be ...
Hamideh Arasteh +7 more
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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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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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Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high-pace adaptation. [PDF]
Ecol Evol, 2017 Climate change is predicted to affect the reproductive ecology of wildlife; however, we have yet to understand if and how species can adapt to the rapid pace of change.
Prentice MB +8 more
europepmc +2 more sources
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
core +3 more sources
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
doaj
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
openaire +4 more sources