The FMR1 gene and fragile X-associated tremor/ataxia syndrome. - Wikidata - wikimedia - TriplyDB

The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

http://www.wikidata.org/entity/Q35061671

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On the aggregation properties of FMRP--a link with the FXTAS syndrome?Defining ovarian reserve to better understand ovarian aging CGG repeat in the FMR1 gene: size matters Potential therapeutic interventions for fragile X syndrome Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene.Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.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 Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.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 Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.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 Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task Chromatin-Mediated Reversible Silencing of Sense-Antisense Gene Pairs in Embryonic Stem Cells Is Consolidated upon Differentiation.Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.Male carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encoding Regulatory RNAs in brain function and disorders.Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model.RNA-binding protein Sam68 controls synapse number and local β-actin mRNA metabolism in dendrites.Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion mTOR, a Potential Target to Treat Autism Spectrum Disorder.Depressed nNOS expression during spine transition in the developing hippocampus of FMR1 KO mice.Translation of the FMR1 mRNA is not influenced by AGG interruptions FMR1 CGG expansions: prevalence and sex ratios.Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.Regulation of mRNA transport, localization and translation in the nervous system of mammals (Review).Investigation of amygdala volume in men with the fragile X premutation.Epilepsy in four genetically determined syndromes of intellectual disability.Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

http://www.wikidata.org/entity/Q35061671

description

2009 nî lūn-bûn

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2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

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B A Oostra

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J R Brouwer

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R Willemsen

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P2860

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

FMR1 protein: conserved RNP family domains and selective RNA binding

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

Altered synaptic plasticity in a mouse model of fragile X mental retardation

CpG methylation, chromatin structure and gene silencing-a three-way connection.

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

The fragile-X premutation: a maturing perspective.

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

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10.1002/AJMG.B.30910

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6

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150B

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fragile X-associated tremor/ataxia syndrome

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