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Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
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Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
author
Jean-Louis Mandel
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Barbara Bardoni
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
publication date
1 June 2002
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
volume
12
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
page(s)
284-293
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
cites work
Monogenic causes of X-linked mental retardation.
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7 January 2021
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inferred from DOI database lookup
Understanding the molecular basis of fragile X syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
FMR1 gene and fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMR1 and the fragile X syndrome: human genome epidemiology review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of domains affecting intracellular localization of the FMRP protein.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fmr1 knockout mice: A model to study fragile X mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Translational suppression by trinucleotide repeat expansion at FMR1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Normal phenotype in two brothers with a full FMR1 mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Obstetrical and gynecological complications in fragile X carriers: a multicenter study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Premature ovarian failure in the fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X premutations in familial premature ovarian failure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reproductive and menstrual history of females with fragile X expansions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Instability of a (CGG)98 repeat in the Fmr1 promoter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMR1 protein: conserved RNP family domains and selective RNA binding
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RNAs that interact with the fragile X syndrome RNA binding protein FMRP.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence that fragile X mental retardation protein is a negative regulator of translation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X mental retardation protein inhibits translation via interacting with mRNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Developmental expression of the fragile X-related 1 proteins in mouse testis: association with microtubule elements.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Knockout mouse model for Fxr2: a model for mental retardation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rho GTPases in neuronal morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fmr1 knockout mouse has a distinctive strain-specific learning impairment.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mice develop sensory hyperreactivity to auditory stimuli
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Synaptic regulation of protein synthesis and the fragile X protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of neocortex in three males with the fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal development of dendritic spines in FMR1 knock-out mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sensory stimulation increases cortical expression of the fragile X mental retardation protein in vivo.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-term potentiation in the hippocampus of fragile X knockout mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered synaptic plasticity in a mouse model of fragile X mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MECP2 is highly mutated in X-linked mental retardation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low frequency of MECP2 mutations in mentally retarded males.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0959-437X(02)00300-3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
PubMed publication ID
12076671
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12076671
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
ResearchGate publication ID
11297725
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