Results 31 to 40 of about 139,916 (258)
Genetic modifiers of repeat expansion disorders
Emerging Topics in Life Sciences, 2023 Repeat expansion disorders (REDs) are monogenic diseases caused by a sequence of repetitive DNA expanding above a pathogenic threshold. A common feature of the REDs is a strong genotype–phenotype correlation in which a major determinant of age at onset (AAO) and disease progression is the length of the inherited repeat tract.
Sangeerthana Rajagopal +4 more
openaire +3 more sources
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
Epilepsia Open, 2023 Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA ...
Tatiana Maroilley +8 more
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C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity
Frontiers in Genetics, 2023 C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting ...
Karri Kaivola +21 more
doaj +1 more source
PLoS Genetics, 2015 The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat.
Rachel Adihe Lokanga +3 more
doaj +1 more source
Unusual structures of CCTG repeats and their participation in repeat expansion
Biomolecular Concepts, 2016 Abstract CCTG repeat expansion in intron 1 of the cellular nucleic acid-binding protein ( CNBP ) gene has been identified to be the genetic cause of myotonic dystrophy type 2 (DM2). Yet the underlying reasons for the genetic instability in CCTG repeats remain elusive.
Pei Guo, Sik Lok Lam
openaire +3 more sources
Bio-Protocol, 2022 Repeat expansion diseases, including fragile X syndrome, Huntington’s disease, and C9orf72-related motor neuron disease and frontotemporal dementia, are a group of disorders associated with polymorphic expansions of tandem repeat nucleotide sequences ...
Joanne Sharpe, Nikki Harper, Ryan West
doaj +1 more source
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
Annals of Clinical and Translational Neurology, 2020 Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID).
Pu Fang +11 more
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Synthesis and cloning of long repeat sequences using single-stranded circular DNA
Frontiers in Bioengineering and Biotechnology, 2023 Non-coding repeat expansion causes several neurodegenerative diseases, such as fragile X syndrome, amyotrophic lateral sclerosis/frontotemporal dementia, and spinocerebellar ataxia (SCA31).
Afsana Bhuiyan, Shuichi Asakawa
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Targeted Therapy for Repeat Expansion Diseases
罕见病研究Repeat expansion diseases(REDs) are a group of genetic disorders caused by the pathological expansion of specific short tandem repeats(STRs) in genomic DNA. They are characterized by significant clinical and genetic heterogeneity. Owing to the complexity
DONG Xinyu, JIANG Hong
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