Animal model for fragile X syndrome (Q41751628)

8 October 2017

1 reference

title

Animal model for fragile X syndrome (English)

1 reference

8 October 2017

1 reference

Oostra BA

1

1 reference

PubMed ID

9562525

8 October 2017

Hoogeveen AT

series ordinal

2

1 reference

PubMed ID

9562525

8 October 2017

language of work or name

English

0 references

publication date

1 December 1997

1 reference

8 October 2017

1 reference

8 October 2017

29

1 reference

8 October 2017

6

1 reference

8 October 2017

563-567

1 reference

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

8 October 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

FMR1 protein: conserved RNP family domains and selective RNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

Characterization of FMR1 proteins isolated from different tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

The fragile X mental retardation protein is associated with ribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

FMRP is associated to the ribosomes via RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Association of FMRP with ribosomal precursor particles in the nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Molecular basis of genetic instability of triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

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/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899709007483

10.3109/07853899709007483

21 January 2018

Identifiers

DOI

1 reference

8 October 2017

1 reference

PubMed ID

9562525