Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. (Q34699414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Barbara Bardoni

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

Current Opinion in Genetics & Development

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

284-293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12076671%20AND%20SRC:MED&resulttype=core&format=json

Monogenic causes of X-linked mental retardation.

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Understanding the molecular basis of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FMR1 gene and fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FMR1 and the fragile X syndrome: human genome epidemiology review

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Analysis of domains affecting intracellular localization of the FMRP protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fmr1 knockout mice: A model to study fragile X mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Normal phenotype in two brothers with a full FMR1 mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Premature ovarian failure in the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X premutations in familial premature ovarian failure

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Reproductive and menstrual history of females with fragile X expansions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Instability of a (CGG)98 repeat in the Fmr1 promoter.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FMR1 protein: conserved RNP family domains and selective RNA binding

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

RNAs that interact with the fragile X syndrome RNA binding protein FMRP.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Evidence that fragile X mental retardation protein is a negative regulator of translation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The fragile X mental retardation protein inhibits translation via interacting with mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Developmental expression of the fragile X-related 1 proteins in mouse testis: association with microtubule elements.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Knockout mouse model for Fxr2: a model for mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Rho GTPases in neuronal morphogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fmr1 knockout mouse has a distinctive strain-specific learning impairment.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Fragile X mice develop sensory hyperreactivity to auditory stimuli

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Synaptic regulation of protein synthesis and the fragile X protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Analysis of neocortex in three males with the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Abnormal development of dendritic spines in FMR1 knock-out mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Sensory stimulation increases cortical expression of the fragile X mental retardation protein in vivo.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Long-term potentiation in the hippocampus of fragile X knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Altered synaptic plasticity in a mouse model of fragile X mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021

Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900300-3

7 January 2021