(Q48402943)

English

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

scientific article published on 21 September 2006

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

author name string

Rhonda M Clark

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

Irene De Biase

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

Anna P Malykhina

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

Sahar Al-Mahdawi

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

Mark Pook

5

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

Sanjay I Bidichandani

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

publication date

21 September 2006

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

120

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

5

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

633-640

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

https://scigraph.springernature.com/pub.10.1007/s00439-006-0249-3

0 references

Somatic instability of CTG repeat in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0249-3

21 January 2018

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0249-3

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frataxin knockin mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of parental gender on the GAA dynamic mutation in the FRDA gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex gene conversion events in germline mutation at human minisatellites

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CTG repeat instability and size variation timing in DNA repair-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0249-3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024371

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48402943&oldid=1398076907"