Fragile X gene instability: anchoring AGGs and linked microsatellites
about
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)The fragile-X premutation: a maturing perspective.Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesFragile X syndrome: the FMR1 CGG repeat distribution among world populationsUnstable mutations in the FMR1 gene and the phenotypesDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneInterruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structuresThe effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiaeAGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.The complex mutation pattern of a microsatelliteAGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypePopulation dynamics of a meiotic/mitotic expansion model for the fragile X syndromeDistribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.Familial transmission of the FMR1 CGG repeat.Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmissionEvolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP HaplotypePaternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Expansion of an FMR1 grey-zone allele to a full mutation in two generations.Translation of the FMR1 mRNA is not influenced by AGG interruptionsFragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.On the formation of nucleosomes within the FMR1 trinucleotide repeat.Positive fragile X microsatellite associations point to a common mechanism of dynamic mutation evolution.
P2860
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P2860
Fragile X gene instability: anchoring AGGs and linked microsatellites
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Fragile X gene instability: anchoring AGGs and linked microsatellites
@ast
Fragile X gene instability: anchoring AGGs and linked microsatellites
@en
type
label
Fragile X gene instability: anchoring AGGs and linked microsatellites
@ast
Fragile X gene instability: anchoring AGGs and linked microsatellites
@en
prefLabel
Fragile X gene instability: anchoring AGGs and linked microsatellites
@ast
Fragile X gene instability: anchoring AGGs and linked microsatellites
@en
P2093
P2860
P1476
Fragile X gene instability: anchoring AGGs and linked microsatellites
@en
P2093
P2860
P304
P407
P577
1995-08-01T00:00:00Z