(Q30497616)

English

An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed

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scholarly article

1 reference

Europe PubMed Central

26 September 2017

An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed (English)

1 reference

Europe PubMed Central

26 September 2017

muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Bruce F Smith

1

1 reference

Europe PubMed Central

26 September 2017

Yongping Yue

2

1 reference

Europe PubMed Central

26 September 2017

Philip R Woods

3

1 reference

Europe PubMed Central

26 September 2017

Joe N Kornegay

4

1 reference

Europe PubMed Central

26 September 2017

Jin-Hong Shin

5

1 reference

Europe PubMed Central

26 September 2017

Regina R Williams

6

1 reference

Europe PubMed Central

26 September 2017

Dongsheng Duan

7

1 reference

Europe PubMed Central

26 September 2017

publication date

16 August 2010

1 reference

Europe PubMed Central

26 September 2017

Laboratory Investigation

1 reference

Europe PubMed Central

26 September 2017

91

1 reference

Europe PubMed Central

26 September 2017

2

1 reference

Europe PubMed Central

26 September 2017

216-231

1 reference

Europe PubMed Central

26 September 2017

Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Mammalian animal models for Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A single intravenous injection of adeno-associated virus serotype-9 leads to whole body skeletal muscle transduction in dogs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Genetic modifiers of muscular dystrophy: implications for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

FGF6 in myogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

C-terminal-truncated microdystrophin recruits dystrobrevin and syntrophin to the dystrophin-associated glycoprotein complex and reduces muscular dystrophy in symptomatic utrophin/dystrophin double-knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

LINE-1 retrotransposons: modulators of quantity and quality of mammalian gene expression?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Canine and feline models of human inherited muscle diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Mobile elements: drivers of genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Molecular analysis of a spontaneous dystrophin 'knockout' dog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Animal models of muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Experience with screening newborns for Duchenne muscular dystrophy in Wales

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A cluster of transposon-like repetitive sequences in intron 7 of the human dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Are fibroblast growth factors regulators of myogenesis in vivo?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Canine X-linked muscular dystrophy. An animal model of Duchenne muscular dystrophy: clinical studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Mosaic expression of dystrophin in carriers of canine X-linked muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

Canine X-linked muscular dystrophy: Selective involvement of muscles in neonatal dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

A transposon-like element in the deletion-prone region of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

20 June 2018

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Duchenne muscular dystrophy: a 30-year population-based incidence study.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Muscular dystrophy in a litter of golden retriever dogs

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Canine X-linked muscular dystrophy in a family of Grand Basset Griffon Vendéen dogs.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Dystrophin-deficient muscular dystrophy in a Labrador retriever

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Identification of a novel T-insertion polymorphism at the DMD locus.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Prevention of dystrophin-deficient cardiomyopathy in twenty-one-month-old carrier mice by mosaic dystrophin expression or complementary dystrophin/utrophin expression

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Hypertrophic muscular dystrophy in a young dog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

26 November 2018

Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2999660

26 November 2018

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.2010.146

21 January 2018

Contraction force generated by tarsal joint flexion and extension in dogs with golden retriever muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin-deficient muscular dystrophy in an old English sheepdog

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

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based on heuristic

inferred from PubMed ID database lookup

Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin-deficient muscular dystrophy in a Weimaraner

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canine X-linked muscular dystrophy: morphologic lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy with a Possible Recessive X-Linked Inheritance in a Litter of Irish Terriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20714321

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1038/LABINVEST.2010.146

1 reference

Europe PubMed Central

26 September 2017

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1 reference

Europe PubMed Central

26 September 2017

1 reference

Europe PubMed Central

26 September 2017

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