Somatic expansion in mouse and human carriers of fragile X premutation alleles. - Wikidata - awgldk - TriplyDB

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

http://www.wikidata.org/entity/Q36472667

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Emerging pharmacologic treatment options for fragile X syndrome The multiple molecular facets of fragile X-associated tremor/ataxia syndrome Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.Clinical and molecular implications of mosaicism in FMR1 full mutations.Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.Repeat instability during DNA repair: Insights from model systems The Repeat Expansion Diseases: The dark side of DNA repair.Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.The dual nature of mismatch repair as antimutator and mutator: for better or for worse.A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome.A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability.Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Paternal transmission of a FMR1 full mutation allele.Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene

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P2860

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

http://www.wikidata.org/entity/Q36472667

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

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Somatic expansion in mouse and human carriers of fragile X premutation alleles.

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type

label

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

@ast

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

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prefLabel

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

@ast

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

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P1476

Somatic expansion in mouse and human carriers of fragile X premutation alleles.

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P2093

Ali Entezam

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Carolyn Beebe Smith

http://www.w3.org/2001/XMLSchema#string

Daman Kumari

http://www.w3.org/2001/XMLSchema#string

Dmitry Yudkin

http://www.w3.org/2001/XMLSchema#string

Karen Usdin

http://www.w3.org/2001/XMLSchema#string

Mei Qin

http://www.w3.org/2001/XMLSchema#string

Rachel Adihe Lokanga

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P2860

New insights into repeat instability: role of RNA•DNA hybrids

Mismatch repair deficiency associated with overexpression of the MSH3 gene

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

A novel approach to investigate tissue-specific trinucleotide repeat instability.

Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis

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10.1002/HUMU.22177

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1

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34

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