Transcription of the FMR1 gene in individuals with fragile X syndrome. - Wikidata - awgldk - TriplyDB

Transcription of the FMR1 gene in individuals with fragile X syndrome.

Transcription of the FMR1 gene in individuals with fragile X syndrome.

http://www.wikidata.org/entity/Q40793010

about

The fragile-X premutation: a maturing perspective.Fragile x syndrome Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect Facile FMR1 mRNA structure regulation by interruptions in CGG repeats Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder Unstable mutations in the FMR1 gene and the phenotypes Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Phenobarbital use and neurological problems in FMR1 premutation carriers Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data.Mouse models of fragile X-associated tremor ataxia.Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Fibroblast phenotype in male carriers of FMR1 premutation alleles Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Biomarkers in the Study of Families of Individuals with Developmental Disabilities.Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Lifespan changes in working memory in fragile X premutation males.Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.FMR1 and the fragile X syndrome: human genome epidemiology review Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.Fragile X mental retardation protein expression in Alzheimer's disease Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders Sporadic breast cancer patients' germline DNA exhibit an AT-rich microsatellite signature.Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders The FMR1 gene and fragile X-associated tremor/ataxia syndrome.A consistent local linear estimator of the covariate adjusted correlation coefficient Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome.Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.Exploring the adult life of men and women with fragile X syndrome: results from a national survey Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

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P2860

Transcription of the FMR1 gene in individuals with fragile X syndrome.

http://www.wikidata.org/entity/Q40793010

description

2000 nî lūn-bûn

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2000年の論文

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年學術文章

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2000年學術文章

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2000年學術文章

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name

Transcription of the FMR1 gene in individuals with fragile X syndrome.

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type

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Transcription of the FMR1 gene in individuals with fragile X syndrome.

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prefLabel

Transcription of the FMR1 gene in individuals with fragile X syndrome.

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American Journal of Medical Genetics Part A

P1476

Transcription of the FMR1 gene in individuals with fragile X syndrome.

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P2093

Chamberlain WD

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Hagerman PJ

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Hagerman RJ

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Tassone F

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P2860

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

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

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

Quantitative comparison of FMR1 gene expression in normal and premutation alleles

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

Allelic discrimination by nick-translation PCR with fluorogenic probes.

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

Absence of expression of the FMR-1 gene in fragile X syndrome.

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195-203

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