A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. [PDF]
PLoS ONE, 2012 Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.
Eric D Wieben +6 more
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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
doaj +1 more source
The CAG trinucleotide repeat length in the androgen receptor does not predict the early onset of prostate cancer [PDF]
, 2002 Objective To relate the repeat length of the androgen-receptor CAG trinucleotide to the age of onset of prostate cancer, stage and grade of disease. Patients and methods After obtaining ethical approval, 265 patients with locally confined or locally ...
Bartlett, J.M.S. +5 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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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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Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Genome Medicine, 2017 Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu +4 more
doaj +1 more source
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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