Search
Search Results
-
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA)...
-
-
Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease
Neuronal intranuclear inclusion disease (NIID, OMIM#:603472) is a neurodegenerative disease characterized by a variety of neurological symptoms,...
-
A simple means for MHC-Y genoty** in chickens using short tandem repeat sequences
Described here is a new, more efficient method for defining major histocompatibility complex- Y (MHC- Y ) genotypes in chickens. The MHC- Y region is...
-
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the...
-
Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis
The unclear pathogenic mechanisms of neurodegenerative disorders stemming from NOTCH2NLC GGC repeat expansions drive focused research. Thus, a...
-
Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and...
-
Profiling complex repeat expansions in RFC1 in Parkinson’s disease
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia,...
-
The impact of short tandem repeat variation on gene expression
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on...
-
-
Human short tandem repeat identification using a nanopore-based DNA sequencer: a pilot study
Short tandem repeats (STRs) are repetitive DNA sequences that are highly polymorphic and widely used for personal identification in the field of...
-
Neurogenetic Variant Analysis by Optical Genome Map** for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions
Structural variants in the human genome have been associated with several neurological disorders. Syndromic neurodevelopmental delay has been...
-
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data
Short- and long-read sequencing technologies are routinely used to detect DNA variants, including SNVs, indels, and structural variations (SVs)....
-
Make it double: identification and characterization of a Tandem-Hirudin from the Asian medicinal leech Hirudinaria manillensis
Haematophagous leeches express a broad variety of secretory proteins in their salivary glands, among them are hirudins and hirudin-like factors....
-
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG
Despite substantial efforts in identifying both rare and common variants affecting disease risk, in the majority of diseases, a large proportion of...
-
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
BackgroundGGC repeat expansions in NOTCH2NLC are associated with neuronal intranuclear inclusion disease. Very recently, asymptomatic carriers with NOTCH2NLC...
-
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population
BackgroundTandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict...
-
Analysis of the Hexanucleotide Repeat Domain in the TAF1 SVA Retrotransposon in X-Linked Dystonia-Parkinsonism
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the Philippines. The disease is caused by the antisense...
-
A Hypermutable Region in the DISP2 Gene Links to Natural Selection and Late-Onset Neurocognitive Disorders in Humans
(CCG) short tandem repeats (STRs) are predominantly enriched in genic regions, mutation hotspots for C to T truncating substitutions, and involved in...
-
Repetitive Sequences, Codon Usage Bias and Phylogenetic Analysis of the Plastome of Miliusa glochidioides
Annonaceae is the largest family in Magnoliales, exhibiting the greatest diversity among and within genera. In this study, we conducted an analysis...
