Normal phenotype in two brothers with a full FMR1 mutation. - Wikidata - awgldk - TriplyDB

Normal phenotype in two brothers with a full FMR1 mutation.

Normal phenotype in two brothers with a full FMR1 mutation.

http://www.wikidata.org/entity/Q52012540

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The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells The fragile X gene and its function Role of CTCF protein in regulating FMR1 locus transcription Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Biology of the fragile X mental retardation protein, an RNA-binding protein.FMR1 gene and fragile X syndrome.Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.Fragile X syndrome. Molecular and clinical insights and treatment issues Clinical and molecular implications of mosaicism in FMR1 full mutations.FMRP detection assay for the diagnosis of the fragile X syndrome.Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene.Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Characterization of FMR1 promoter elements by in vivo-footprinting analysis.An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Comparing ESC and iPSC-Based Models for Human Genetic Disorders Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.Bidirectional transcription of trinucleotide repeats: roles for excision repair.FMR1: a gene with three faces.CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

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P2860

Normal phenotype in two brothers with a full FMR1 mutation.

http://www.wikidata.org/entity/Q52012540

description

1995 nî lūn-bûn

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1995年の論文

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年學術文章

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1995年學術文章

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name

Normal phenotype in two brothers with a full FMR1 mutation.

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Normal phenotype in two brothers with a full FMR1 mutation.

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type

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Normal phenotype in two brothers with a full FMR1 mutation.

@en

Normal phenotype in two brothers with a full FMR1 mutation.

@nl

prefLabel

Normal phenotype in two brothers with a full FMR1 mutation.

@en

Normal phenotype in two brothers with a full FMR1 mutation.

@nl

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Normal phenotype in two brothers with a full FMR1 mutation.

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Hoogeveen AT

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Oosterwijk JC

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Oostra BA

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2103-2108

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11

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4

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8589687

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