Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model (Q35944748)

11 August 2017

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model (English)

1 reference

11 August 2017

Ali Entezam

1

1 reference

11 August 2017

Rea Biacsi

2

1 reference

11 August 2017

Bonnie Orrison

3

1 reference

11 August 2017

Tapas Saha

4

1 reference

11 August 2017

Gloria E Hoffman

5

1 reference

11 August 2017

Ed Grabczyk

6

1 reference

11 August 2017

Robert L Nussbaum

7

1 reference

11 August 2017

Karen Usdin

8

1 reference

11 August 2017

language of work or name

English

0 references

publication date

16 March 2007

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11 August 2017

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11 August 2017

395

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11 August 2017

1-2

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11 August 2017

125-134

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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Fragile X-associated tremor/ataxia syndrome (FXTAS).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Premature ovarian failure in the fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Triplet repeats form secondary structures that escape DNA repair in yeast

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Fragile X genotype characterized by an unstable region of DNA.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Clinical features of boys with fragile X premutations and intermediate alleles

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Spatial and temporal expression of the Cre gene under the control of the MMTV-LTR in different lines of transgenic mice.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Translational suppression by trinucleotide repeat expansion at FMR1.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950257

Epigenetic and genotype-specific effects on the stability of de novo imposed methylation patterns in transgenic mice

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17442505

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17442505

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17442505

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.GENE.2007.02.026

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

17442505

1 reference