Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
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Molecular genetics and genetic testing in myotonic dystrophy type 1.Organization and differential expression of the GACA/GATA tagged somatic and spermatozoal transcriptomes in Buffalo Bubalus bubalisPolymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosisMolecular mining of alleles in water buffalo Bubalus bubalis and characterization of the TSPY1 and COL6A1 genesMutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases.Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathologyGenomics and pediatric research.FRA2A is a CGG repeat expansion associated with silencing of AFF3Postreplication repair inhibits CAG.CTG repeat expansions in Saccharomyces cerevisiae.Single Amino Acid Repeats in the Proteome World: Structural, Functional, and Evolutionary Insights.Genetic variation and its role in malignancyDistinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases.DNA energy landscapes via calorimetric detection of microstate ensembles of metastable macrostates and triplet repeat diseasesRNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases.Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.Mutations in yeast replication proteins that increase CAG/CTG expansions also increase repeat fragility.Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat.The guanine-rich fragile X chromosome repeats are reluctant to form tetraplexes.Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.The molecular clock in terms of quantum information processing of coherent states, entanglement and replication of evolutionarily selected decohered isomers.Clinical characterization of dystonia in adult patients with Huntington's disease.Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences.Vergence and Strabismus in Neurodegenerative Disorders.FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene
P2860
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P2860
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@ast
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@en
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@nl
type
label
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@ast
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@en
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@nl
prefLabel
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@ast
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@en
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@nl
P356
P1476
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
@en
P2093
R I Richards
P304
P356
10.1093/HMG/10.20.2187
P407
P577
2001-10-01T00:00:00Z