Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
about
MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeatsTwo highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptideStructural studies of a stable parallel-stranded DNA duplex incorporating isoguanine:cytosine and isocytosine:guanine basepairs by nuclear magnetic resonance spectroscopySimple tandem DNA repeats and human genetic diseaseIdentification of a human achaete-scute homolog highly expressed in neuroendocrine tumorsExtensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loopsFacile FMR1 mRNA structure regulation by interruptions in CGG repeatsSatellog: a database for the identification and prioritization of satellite repeats in disease association studies.Mouse Genetic Models of Human Brain DisordersEpigenetics and Triplet-Repeat Neurological DiseasesCommon fragile sites: genomic hotspots of DNA damage and carcinogenesisNetworking in autism: leveraging genetic, biomarker and model system findings in the search for new treatmentsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseThe unstable repeats--three evolving faces of neurological diseaseDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsRNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisAdvanced technologies for the molecular diagnosis of fragile X syndromeFMRP targets distinct mRNA sequence elements to regulate protein expressionTranslational regulation of the human achaete-scute homologue-1 by fragile X mental retardation proteinInteraction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndromeRNA and microRNAs in fragile X mental retardationCyfip1 Regulates Presynaptic Activity during DevelopmentDNA secondary structure at chromosomal fragile sites in human disease.Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11qThe cyclic AMP cascade is altered in the fragile X nervous systemOver half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites.Molecular and cellular genetics of fragile X syndrome.Experience with direct molecular diagnosis of fragile X.Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutationFrequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.Guidelines for the diagnosis of fragile X syndrome. National Fragile X FoundationClinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeGametic but not somatic instability of CAG repeat length in Huntington's disease.A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.Cloning of the gene for the fragile X syndrome: implications for the clinical geneticistFragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
P2860
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P2860
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p
@nl
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
@en
type
label
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p
@nl
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
@en
prefLabel
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p
@nl
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
@en
P2093
P2860
P356
P1433
P1476
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
@en
P2093
Pritchard M
Richards RI
Schlessinger D
Sutherland GR
P2860
P304
P356
10.1126/SCIENCE.1675488
P407
P577
1991-06-01T00:00:00Z