(Q34007440)

30 July 2017

title

Examination of FMR1 transcript and protein levels among 74 premutation carriers (English)

1 reference

30 July 2017

Emmanuel Peprah

1

1 reference

30 July 2017

Weiya He

2

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30 July 2017

Emily Allen

3

1 reference

30 July 2017

Tiffany Oliver

4

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30 July 2017

Alex Boyne

5

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30 July 2017

Stephanie L Sherman

6

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30 July 2017

publication date

20 November 2009

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Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

55

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30 July 2017

issue

1

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30 July 2017

page(s)

66-68

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A quantitative ELISA assay for the fragile x mental retardation 1 protein

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Fragile X syndrome: diagnostic and carrier testing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Differential expression of Fmr-1 mRNA and FMRP in female mice brain during aging.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Clinical involvement and protein expression in individuals with the FMR1 premutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

Translational suppression by trinucleotide repeat expansion at FMR1.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122982

29 October 2018

Identifiers

DOI

10.1038/JHG.2009.121

1 reference

30 July 2017

1 reference

30 July 2017

1 reference