(Q28201533)

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Fine structure of the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

A cell cycle-dependent internal ribosome entry site

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

PDGF2/c-sis mRNA leader contains a differentiation-linked internal ribosomal entry site (D-IRES).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Characterization of FMR1 proteins isolated from different tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Association of FMRP with ribosomal precursor particles in the nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

The pre-mRNA binding K protein contains a novel evolutionarily conserved motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

FMR1 protein: conserved RNP family domains and selective RNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Understanding the molecular basis of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Slippage synthesis of simple sequence DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Secondary structures in d(CGG) and d(CCG) repeat tracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Molecular basis of genetic instability of triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Evolution of the cryptic FMR1 CGG repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Characterization of the full fragile X syndrome mutation in fetal gametes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Postmortem examination of two fragile X brothers with an FMR1 full mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Creation of genomic methylation patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Stalling of human DNA (cytosine-5) methyltransferase at single-strand conformers from a site of dynamic mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

In vitro reactivation of the FMR1 gene involved in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

Prevalence of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Evolution of simple repeats in DNA and their relation to human disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Conservation of CGG region in FMR1 gene in mammals

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

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/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Simple repeat DNA is not replicated simply

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Neurodegenerative diseases. Origins of instability

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Prenatal diagnosis of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600601.X

7 January 2021