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FMR1: a gene with three faces
scientific article published on 21 February 2009
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Europe PubMed Central
PMCID
2692361
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19 August 2017
review article
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Europe PubMed Central
title
FMR1: a gene with three faces
(English)
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Europe PubMed Central
PMCID
2692361
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19 August 2017
author
Ben A Oostra
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1
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Ben A Oostra
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Europe PubMed Central
PMCID
2692361
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19 August 2017
author name string
Rob Willemsen
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2
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Europe PubMed Central
PMCID
2692361
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19 August 2017
language of work or name
English
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publication date
21 February 2009
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Europe PubMed Central
PMCID
2692361
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19 August 2017
published in
Biochimica et Biophysica Acta
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Europe PubMed Central
PMCID
2692361
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19 August 2017
volume
1790
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Europe PubMed Central
PMCID
2692361
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19 August 2017
issue
6
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Europe PubMed Central
PMCID
2692361
retrieved
19 August 2017
page(s)
467-477
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Europe PubMed Central
PMCID
2692361
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19 August 2017
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Altered synaptic plasticity in a mouse model of fragile X mental retardation
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A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
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Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
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Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
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Dendritic spine geometry is critical for AMPA receptor expression in hippocampal CA1 pyramidal neurons
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The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif
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A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P
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6 September 2017
Abnormal development of dendritic spines in FMR1 knock-out mice
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6 September 2017
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.
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Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle
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Evidence that fragile X mental retardation protein is a negative regulator of translation
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6 September 2017
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
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6 September 2017
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?
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6 September 2017
Molecular insights into mRNA transport and local translation in the mammalian nervous system
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6 September 2017
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
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6 September 2017
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
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6 September 2017
Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex
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6 September 2017
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein
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6 September 2017
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.
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6 September 2017
Neurotrophin regulation of beta-actin mRNA and protein localization within growth cones
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6 September 2017
Microtubule-dependent recruitment of Staufen-green fluorescent protein into large RNA-containing granules and subsequent dendritic transport in living hippocampal neurons
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6 September 2017
Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism
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6 September 2017
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
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The travels of mRNAs through all cells large and small
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6 September 2017
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
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6 September 2017
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
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6 September 2017
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits
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6 September 2017
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
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6 September 2017
Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes
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6 September 2017
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
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6 September 2017
Molecular basis of genetic instability of triplet repeats
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6 September 2017
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
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PubMed Central
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6 September 2017
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
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PubMed Central
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6 September 2017
Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
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6 September 2017
FMR1 protein: conserved RNP family domains and selective RNA binding
1 reference
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PubMed Central
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6 September 2017
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
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PubMed Central
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6 September 2017
Characterization of FMR1 proteins isolated from different tissues
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6 September 2017
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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6 September 2017
Selective dendritic transport of RNA in hippocampal neurons in culture
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6 September 2017
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
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6 September 2017
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
6 September 2017
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
14 September 2017
Slipped-strand DNAs formed by long (CAG)*(CTG) repeats: slipped-out repeats and slip-out junctions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
14 September 2017
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
14 September 2017
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
14 September 2017
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
14 September 2017
Transcription of the FMR1 gene in individuals with fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
28 September 2017
In vitro reactivation of the FMR1 gene involved in fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
28 September 2017
A nuclear role for the Fragile X mental retardation protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
28 September 2017
Association of FMRP with ribosomal precursor particles in the nucleolus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
28 September 2017
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
28 September 2017
Association of FMR1 repeat size with ovarian dysfunction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Translocation of RNA granules in living neurons.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Adult fragile X syndrome. Clinico-neuropathologic findings.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Analysis of neocortex in three males with the fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
DNA methylation represses FMR-1 transcription in fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
26 June 2018
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Protein composition of the intranuclear inclusions of FXTAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Evidence of early ovarian aging in fragile X premutation carriers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
mRNA at synapses, synaptic plasticity, and memory consolidation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Timing of the absence of FMR1 expression in full mutation chorionic villi.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Internalization of ionotropic glutamate receptors in response to mGluR activation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Instability of a (CGG)98 repeat in the Fmr1 promoter.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Characterization of the full fragile X syndrome mutation in fetal gametes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Normal phenotype in two brothers with a full FMR1 mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692361
retrieved
3 September 2018
Association of fragile X syndrome with delayed replication of the FMR1 gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19233246
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19233246
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19233246
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.BBAGEN.2009.02.007
1 reference
stated in
Europe PubMed Central
PMCID
2692361
retrieved
19 August 2017
PMCID
2692361
1 reference
stated in
Europe PubMed Central
PMCID
2692361
retrieved
19 August 2017
PubMed ID
19233246
1 reference
stated in
Europe PubMed Central
PMCID
2692361
retrieved
19 August 2017
ResearchGate publication ID
24031061
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