Results 11 to 20 of about 507 (138)
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
doaj +1 more source
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
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats
Bio-Protocol, 2021 Atypical DNA and RNA secondary structures play a crucial role in simple sequence repeat (SSR) diseases, which are associated with a class of neurological and neuromuscular disorders known as “anticipation diseases,” where the age of disease onset ...
Jiahui Zhang +4 more
doaj +1 more source
Trinucleotide repeats and neuropsychiatric disorders [PDF]
Indian Journal of Clinical Biochemistry, 2000 Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually ...
K T, Shetty, R, Christopher
openaire +2 more sources
Epigenetics and triplet repeat neurological diseases
Frontiers in Neurology, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Sathiji eNageshwaran +1 more
doaj +1 more source
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