(Q34313848)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Tatsuaki Kurosaki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Shintaroh Ueda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Takafumi Ishida

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Koji Abe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Tohru Matsuura

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

language of work or name

English

0 references

publication date

19 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

e38379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

5 February 2020

copyright license

start time

19 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A matter of life or death: how microsatellites emerge in and vanish from the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

The origin of genetic instability in CCTG repeats

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

RNA-mediated neurodegeneration in repeat expansion disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

The impact of retrotransposons on human genome evolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Mobile elements create structural variation: analysis of a complete human genome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Premutation allele pool in myotonic dystrophy type 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

TimeTree: a public knowledge-base of divergence times among organisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Alu-mediated 100-kb deletion in the primate genome: the loss of the agouti signaling protein gene in the lesser apes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Alu repeats and human genomic diversity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Initial sequencing and analysis of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

PipMaker--a web server for aligning two genomic DNA sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Alu repeats and human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Recent amplification of rat ID sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Sporadic amplification of ID elements in rodents.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Standardized nomenclature for Alu repeats

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Alu repeats: a source for the genesis of primate microsatellites.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

DM2 CCTG*CAGG repeats are crossover hotspots that are more prone to expansions than the DM1 CTG*CAG repeats in Escherichia coli.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Origin and instability of GAA repeats: insights from Alu elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Estimating the retrotransposition rate of human Alu elements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038379

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378579

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

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22723857

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22723857

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0038379

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

22723857

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22723857%20AND%20SRC:MED&resulttype=core&format=json