Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Experimental Cell Research

• Publication date

  2007-01-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/J.YEXCR.2006.10.002PMID 17150213PMCID PMC1852528
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.

  2006cited by this paper
• Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).

  2006cited by this paper
• Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability.

  2005cited by this paper
• Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

  2005influential reference
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  2005cited by this paper
• The CGG repeat and the FMR1 gene.

  2004cited by this paper
• A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

  2004cited by this paper
• Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

  2004cited by this paper
• Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.

  2004cited by this paper
• Visual Experience Regulates Transient Expression and Dendritic Localization of Fragile X Mental Retardation Protein

  2004influential reference
• DNA methylation pattern in human zygotes and developing embryos.

  2004influential reference
• Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

  2003cited by this paper
• The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

  2003influential reference
• Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency

  2003cited by this paper
• Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.

  2002cited by this paper
• Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

  2002cited by this paper
• Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

  2002influential reference
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  2002cited by this paper
• Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice.

  2002cited by this paper
• Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

  2001influential reference
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  2001influential reference
• Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

  2001cited by this paper
• Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.

  2000cited by this paper
• Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

  2000influential reference
• Active demethylation of the paternal genome in the mouse zygote.

  2000cited by this paper
• Demethylation of the zygotic paternal genome.

  2000cited by this paper
• Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?

  2000cited by this paper
• Postmortem examination of two fragile X brothers with an FMR1 full mutation.

  1999cited by this paper
• Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation.

  1999cited by this paper
• Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation.

  1998cited by this paper
• Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice.

  1998cited by this paper
• Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.

  1997cited by this paper
• Characterization of the full fragile X syndrome mutation in fetal gametes

  1997cited by this paper
• Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.

  1997cited by this paper
• Normal phenotype in two brothers with a full FMR1 mutation.

  1995cited by this paper
• Translational suppression by trinucleotide repeat expansion at FMR1

  1995influential reference
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  1993cited by this paper
• Decrease in DNA methylase activity during preimplantation development in the mouse.

  1991cited by this paper
• Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

  1991influential reference
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

  1991cited by this paper
• Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

  1991cited by this paper
• Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

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  1987cited by this paper

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  2024cites this paper
• Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome

  2024cites this paper
• Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus

  2024cites this paper
• Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation

  2023cites this paper
• Mouse models of fragile X-related disorders

  2023cites this paper
• Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells

  2022cites this paper
• Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions

  2022cites this paper
• Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation

  2022cites this paper
• Largest-yet fragile X mutation in mice confirms model’s shortcomings

  2022cites this paper
• 341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model

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  2022cites this paper
• New Animal Models for Understanding FMRP Functions and FXS Pathology

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• Interneuron Dysfunction and Inhibitory Deficits in Autism and Fragile X Syndrome

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• CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells

  2021cites this paper
• Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS

  2021cites this paper
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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
• Seizures in Mouse Models of Rare Neurodevelopmental Disorders.

  2020cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2016cites this paper
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  2013cites this paper
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