Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model - Wikidata - wikimedia - TriplyDB

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

http://www.wikidata.org/entity/Q35944748

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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)Fragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndrome RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?A decade of the anaphase-promoting complex in the nervous system Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders CGG repeat in the FMR1 gene: size matters Mouse models of fragile X-associated tremor ataxia.Linear plasmid vector for cloning of repetitive or unstable sequences in Escherichia coli Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.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 Advances in understanding the molecular basis of FXTAS Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.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.Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Fragile X mental retardation protein expression in Alzheimer's disease Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.Microsatellite repeat instability and neurological disease.A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders Mechanisms of trinucleotide repeat instability during human development

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Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

http://www.wikidata.org/entity/Q35944748

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J.GENE.2007.02.026

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Ali Entezam

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Bonnie Orrison

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Ed Grabczyk

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Gloria E Hoffman

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Karen Usdin

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Rea Biacsi

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Robert L Nussbaum

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Tapas Saha

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P2860

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS).

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Premature ovarian failure in the fragile X syndrome.

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

Triplet repeats form secondary structures that escape DNA repair in yeast.

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