Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. - Wikidata - awgldk - TriplyDB

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

http://www.wikidata.org/entity/Q33678120

about

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders The fragile X gene and its function Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.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.Clinical and molecular implications of mosaicism in FMR1 full mutations.FMRP detection assay for the diagnosis of the fragile X syndrome.Genetic effects on human cognition: lessons from the study of mental retardation syndromes Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Fragile X Syndrome: Scientific Background and Screening Technologies.Epigenetics, oxidative stress, and Alzheimer disease.CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Epigenetic and pharmacoepigenomic studies of major psychoses and potentials for therapeutics.Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.The cationic porphyrin TMPyP4 destabilizes the tetraplex form of the fragile X syndrome expanded sequence d(CGG)n.An update on the epigenetics of psychotic diseases and autism.FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.In vitro reactivation of the FMR1 gene involved in fragile X syndrome.Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.Tissue-specific methylation differences in a fragile X premutation carrier.Recombinant Human DNA (Cytosine-5) Methyltransferase

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P2860

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

http://www.wikidata.org/entity/Q33678120

description

1996 nî lūn-bûn

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1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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Variable FMR1 gene methylation ...... les from one fragile X family.

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A A Duits

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A M van den Ouweland

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B A Oostra

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B B de Vries

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C C Jansen

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C Verheij

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D J Halley

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J O van Hemel

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M F Niermeijer

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R Willemsen

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P2860

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

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

Mental status of females with an FMR1 gene full mutation

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

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

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Fragile X genotype characterized by an unstable region of DNA.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

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