CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS (Q34955465)

5 August 2017

title

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS (English)

1 reference

trinucleotide repeat expansion

5 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

author name string

Gry Hoem

1

1 reference

5 August 2017

Dolores Garcia-Arocena

3

1 reference

5 August 2017

Flora Tassone

4

1 reference

5 August 2017

Eleonora Sanchez

5

1 reference

5 August 2017

Madhur Kumar

8

1 reference

5 August 2017

Christopher R. Raske

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

Anna L. Ludwig

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

Christine K. Iwahashi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

Jane E. Yang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

Paul J. Hagerman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

26 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21389081

26 November 2024

publication date

9 March 2011

1 reference

full work available at URL

5 August 2017

https://academic.oup.com/hmg/article-pdf/20/11/2161/1776511/ddr101.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

https://europepmc.org/articles/PMC3090194

26 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

https://europepmc.org/articles/PMC3090194?pdf=render

26 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

https://doi.org/10.1093/hmg/ddr101

26 November 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21389081

http://academic.oup.com/hmg/article-pdf/20/11/2161/1776511/ddr101.pdf

26 November 2024

1 reference

26 November 2024

published in

Human Molecular Genetics

1 reference

5 August 2017

volume

20

1 reference

5 August 2017

issue

11

1 reference

5 August 2017

page(s)

2161-2170

1 reference

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

5 August 2017

cites work

1 reference

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DGCR8 recognizes primary transcripts of microRNAs through highly cooperative binding and formation of higher-order structures

8 July 2018

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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

8 July 2018

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Advances in understanding the molecular basis of FXTAS

8 July 2018

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RNA-mediated neurodegeneration in repeat expansion disorders

8 July 2018

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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

8 July 2018

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8 July 2018

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Fibroblast phenotype in male carriers of FMR1 premutation alleles

8 July 2018

1 reference

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Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

8 July 2018

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Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

8 July 2018

1 reference

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ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

8 July 2018

1 reference

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Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment

8 July 2018

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A review of fragile X premutation disorders: expanding the psychiatric perspective

8 July 2018

1 reference

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Ectopic expression of CGG containing mRNA is neurotoxic in mammals

8 July 2018

1 reference

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The FMR1 gene and fragile X-associated tremor/ataxia syndrome

8 July 2018

1 reference

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Gamma-H2AX in recognition and signaling of DNA double-strand breaks in the context of chromatin

8 July 2018

1 reference

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Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease

8 July 2018

1 reference

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Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

8 July 2018

1 reference

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Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

8 July 2018

1 reference

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RNA-mediated neuromuscular disorders

8 July 2018

1 reference

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Size bias of fragile X premutation alleles in late-onset movement disorders.

8 July 2018

1 reference

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Dysfunction of lamin A triggers a DNA damage response and cellular senescence

8 July 2018

1 reference

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8 July 2018

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The fragile-X premutation: a maturing perspective

8 July 2018

1 reference

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

8 July 2018

1 reference

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A DNA damage checkpoint response in telomere-initiated senescence

8 July 2018

1 reference

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The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer

8 July 2018

1 reference

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The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter

8 July 2018

1 reference

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

8 July 2018

1 reference

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Stringent control of gene expression in vivo by using novel doxycycline-dependent trans-activators

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

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

8 July 2018

1 reference

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Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

8 July 2018

1 reference

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Protein composition of the intranuclear inclusions of FXTAS.

21 January 2018

1 reference

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

21 January 2018

1 reference

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal diagnosis and carrier screening for fragile X by PCR.

21 January 2018

1 reference

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

21 January 2018

1 reference

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.

21 January 2018

1 reference

Going against the grain: chemotaxis and infection in Vibrio cholerae

21 January 2018

1 reference

Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

Clinical features of boys with fragile X premutations and intermediate alleles

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090194

Primary central nervous system lymphoma

26 October 2018

23

1 reference

26 November 2024

Identifiers

DOI

10.1093/HMG/DDR101

1 reference

5 August 2017

1 reference

5 August 2017

1 reference