(Q36141218)

12 August 2017

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy (English)

1 reference

12 August 2017

0 references

10

Salvatore DiMauro

1 reference

12 August 2017

8

Hiroki Kurahashi

1 reference

12 August 2017

Mariko Taniguchi-Ikeda

1

object named as

Mariko Taniguchi-Ikeda

1 reference

12 August 2017

2

Kazuhiro Kobayashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21979053

14 December 2024

author name string

Motoi Kanagawa

3

1 reference

12 August 2017

Chih-chieh Yu

4

1 reference

12 August 2017

Kouhei Mori

5

1 reference

12 August 2017

Tetsuya Oda

6

1 reference

12 August 2017

Atsushi Kuga

7

1 reference

12 August 2017

Ryuji Kaji

11

1 reference

12 August 2017

Toshifumi Yokota

12

1 reference

12 August 2017

Shin'ichi Takeda

13

1 reference

12 August 2017

Tatsushi Toda

14

1 reference

12 August 2017

Hasan O. Akman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21979053

14 December 2024

language of work or name

English

0 references

publication date

5 October 2011

1 reference

full work available at URL

12 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412178

file format

HyperText Markup Language

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21979053

https://europepmc.org/articles/PMC3412178

14 December 2024

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21979053

https://europepmc.org/articles/PMC3412178?pdf=render

14 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21979053

http://www.nature.com/articles/nature10456.pdf

14 December 2024

1 reference

https://api.crossref.org/works/10.1038/NATURE10456

http://www.nature.com/articles/nature10456

14 December 2024

1 reference

https://api.crossref.org/works/10.1038/NATURE10456

14 December 2024

1 reference

12 August 2017

478

1 reference

12 August 2017

7367

1 reference

12 August 2017

127-131

1 reference

Retrotransposition of marked SVA elements by human L1s in cultured cells

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

SVA retrotransposons: Evolution and genetic instability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

The impact of retrotransposons on human genome evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Exon-trapping mediated by the human retrotransposon SVA.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx 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=3412178

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Randomized phase III trial of fludarabine plus cyclophosphamide with or without oblimersen sodium (Bcl-2 antisense) in patients with relapsed or refractory chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Dystroglycan: from biosynthesis to pathogenesis of human disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Natural genetic variation caused by transposable elements in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Mobile elements: drivers of genome evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

SVA elements are nonautonomous retrotransposons that cause disease in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Retroposed copies of the HMG genes: a window to genome dynamics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Molecular mechanisms of autosomal recessive hypercholesterolemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Initial sequencing and analysis of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Repbase update: a database and an electronic journal of repetitive elements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412178

Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations.

2 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

SVA elements: a hominid-specific retroposon family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10456

Molecular characterization of germline NF2 gene rearrangements

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21979053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Vitravene--another piece in the mosaic

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21979053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE10456

1 reference

Dimensions Publication ID

12 August 2017

0 references

1 reference

12 August 2017

1 reference