(Q34175938)

31 July 2017

title

A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy (English)

1 reference

31 July 2017

A Human-Specific Deletion in Mouse Cmah Increases Disease Severity in the mdx Model of Duchenne Muscular Dystrophy (English)

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Duchenne muscular dystrophy

12 June 2024

main subject

1 reference

6

Paulus M. L. Janssen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668298

12 June 2024

author name string

Kumaran Chandrasekharan

1

1 reference

31 July 2017

Jung Hae Yoon

2

1 reference

31 July 2017

Ying Xu

3

1 reference

31 July 2017

Sarah deVries

4

1 reference

31 July 2017

Marybeth Camboni

5

1 reference

31 July 2017

Ajit Varki

7

1 reference

31 July 2017

Paul T. Martin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668298

12 June 2024

language of work or name

English

0 references

publication date

1 July 2010

1 reference

31 July 2017

28 July 2010

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20668298

full work available at URL

12 June 2024

https://europepmc.org/articles/pmc2950110?pdf=render

file format

Portable Document Format

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%3A20668298

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20668298/pdf/?tool=EBI

12 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668298

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20668298/?tool=EBI

12 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668298

https://europepmc.org/articles/PMC2950110

12 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20668298

https://europepmc.org/articles/PMC2950110?pdf=render

12 June 2024

file format

Portable Document Format

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%3A20668298

https://doi.org/10.1126/scitranslmed.3000692

12 June 2024

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%3A20668298

https://www.science.org/doi/pdf/10.1126/scitranslmed.3000692

12 June 2024

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Science Translational Medicine

12 June 2024

published in

1 reference

31 July 2017

volume

2

1 reference

31 July 2017

issue

42

1 reference

31 July 2017

page(s)

42ra54

1 reference

Immunization with the SDPM1 peptide lowers amyloid plaque burden and improves cognitive function in the APPswePSEN1(A246E) transgenic mouse model of Alzheimer's disease

31 July 2017

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Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient mice

5 July 2018

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The synaptic CT carbohydrate modulates binding and expression of extracellular matrix proteins in skeletal muscle: Partial dependence on utrophin

5 July 2018

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5 July 2018

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The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies

5 July 2018

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Sensitive and specific detection of the non-human sialic Acid N-glycolylneuraminic acid in human tissues and biotherapeutic products

5 July 2018

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Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice

5 July 2018

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Evidence for a human-specific mechanism for diet and antibody-mediated inflammation in carcinoma progression

5 July 2018

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Incorporation of a non-human glycan mediates human susceptibility to a bacterial toxin

5 July 2018

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Measurement of cardiac function using pressure-volume conductance catheter technique in mice and rats

5 July 2018

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Diversity in specificity, abundance, and composition of anti-Neu5Gc antibodies in normal humans: potential implications for disease

5 July 2018

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Adeno-associated virus serotype-9 microdystrophin gene therapy ameliorates electrocardiographic abnormalities in mdx mice.

5 July 2018

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Emergent dilated cardiomyopathy caused by targeted repair of dystrophic skeletal muscle

5 July 2018

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Biology of the striated muscle dystrophin-glycoprotein complex

5 July 2018

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Diaphragm muscle strip preparation for evaluation of gene therapies in mdx mice

5 July 2018

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Haploinsufficiency of utrophin gene worsens skeletal muscle inflammation and fibrosis in mdx mice

5 July 2018

1 reference

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Genetic treatments in muscular dystrophies

5 July 2018

1 reference

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Diversity in cell surface sialic acid presentations: implications for biology and disease

5 July 2018

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Overexpression of the cytotoxic T cell (CT) carbohydrate inhibits muscular dystrophy in the dyW mouse model of congenital muscular dystrophy 1A.

5 July 2018

1 reference

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Glycan-based interactions involving vertebrate sialic-acid-recognizing proteins

5 July 2018

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PTC124 targets genetic disorders caused by nonsense mutations

5 July 2018

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N-glycolylneuraminic acid deficiency in mice: implications for human biology and evolution

5 July 2018

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Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy

5 July 2018

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Postnatal overexpression of the CT GalNAc transferase inhibits muscular dystrophy in mdx mice without altering muscle growth or neuromuscular development: evidence for a utrophin-independent mechanism

5 July 2018

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Cardiac hypertrophy and reduced contractility in hearts deficient in the titin kinase region

5 July 2018

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The congenital muscular dystrophies: recent advances and molecular insights

5 July 2018

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Duchenne muscular dystrophy: focus on pharmaceutical and nutritional interventions.

5 July 2018

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Nothing in glycobiology makes sense, except in the light of evolution

5 July 2018

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Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage

5 July 2018

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Utrophin upregulation in Duchenne muscular dystrophy

5 July 2018

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The dystroglycanopathies: the new disorders of O-linked glycosylation

5 July 2018

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Mapping of immune responses following wild-type and mutant ABeta42 plasmid or peptide vaccination in different mouse haplotypes and HLA Class II transgenic mice

5 July 2018

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Evolution of human-chimpanzee differences in malaria susceptibility: relationship to human genetic loss of N-glycolylneuraminic acid

5 July 2018

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5 July 2018

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5 July 2018

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Transgenic expression of {alpha}7{beta}1 integrin maintains muscle integrity, increases regenerative capacity, promotes hypertrophy, and reduces cardiomyopathy in dystrophic mice

5 July 2018

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Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells

5 July 2018

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

5 July 2018

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Systemic delivery of genes to striated muscles using adeno-associated viral vectors.

5 July 2018

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Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle

5 July 2018

1 reference

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Glycobiology of the neuromuscular junction

5 July 2018

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Transgenic overexpression of dystroglycan does not inhibit muscular dystrophy in mdx mice

5 July 2018

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5 July 2018

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Dystroglycan glycosylation and its role in matrix binding in skeletal muscle

5 July 2018

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ADAM12 alleviates the skeletal muscle pathology in mdx dystrophic mice

5 July 2018

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Pharmacological control of cellular calcium handling in dystrophic skeletal muscle

5 July 2018

1 reference

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A web-accessible complete transcriptome of normal human and DMD muscle

5 July 2018

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

5 July 2018

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Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle

5 July 2018

1 reference

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Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

5 July 2018

1 reference

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Pharmacologic and genetic therapy for childhood muscular dystrophies

5 July 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

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A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice

5 July 2018

1 reference

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Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice

5 July 2018

1 reference

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Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

5 July 2018

1 reference

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Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

5 July 2018

1 reference

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Characteristics of skeletal muscle in mdx mutant mice

5 July 2018

1 reference

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Creatine kinase, cell membrane and Duchenne muscular dystrophy

5 July 2018

1 reference

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Severe cardiomyopathy in mice lacking dystrophin and MyoD

5 July 2018

1 reference

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Expression of full-length utrophin prevents muscular dystrophy in mdx mice

5 July 2018

1 reference

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Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

5 July 2018

1 reference

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A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence

5 July 2018

1 reference

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Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

5 July 2018

1 reference

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Dystrophin protects the sarcolemma from stresses developed during muscle contraction

5 July 2018

1 reference

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

5 July 2018

1 reference

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Molecular cloning of cytidine monophospho-N-acetylneuraminic acid hydroxylase. Regulation of species- and tissue-specific expression of N-glycolylneuraminic acid

5 July 2018

1 reference

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Effect of voluntary wheel-running exercise on muscles of the mdx mouse

5 July 2018

1 reference

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X chromosome-linked muscular dystrophy (mdx) in the mouse

5 July 2018

1 reference

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Development of basal lamina in synaptic and extrasynaptic portions of embryonic rat muscle

5 July 2018

1 reference

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Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

5 July 2018

1 reference

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

5 July 2018

1 reference

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

5 July 2018

1 reference

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Contractile properties of skeletal muscles from young, adult and aged mice

5 July 2018

1 reference

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Increased protein degradation results from elevated free calcium levels found in muscle from mdx mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy

5 July 2018

1 reference

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An autosomal transcript in skeletal muscle with homology to dystrophin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Membrane organization of the dystrophin-glycoprotein complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Population frequencies of inherited neuromuscular diseases—A world survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Several dystrophin-glycoprotein complex members are present in crude surface membranes but they are sodium dodecyl sulphate invisible in KCl-washed microsomes from mdx mouse muscle.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

beta-Dystroglycan can be revealed in microsomes from mdx mouse muscle by detergent treatment

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Inhibition of dystroglycan cleavage causes muscular dystrophy in transgenic mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Functional improvement of dystrophic muscle by myostatin blockade.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

A subpopulation of murine bone marrow cells fully differentiates along the myogenic pathway and participates in muscle repair in the mdx dystrophic mouse

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Modulation of agrin binding and activity by the CT and related carbohydrate antigens

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Overexpression of the CT GalNAc transferase in skeletal muscle alters myofiber growth, neuromuscular structure, and laminin expression.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

New aspects of siglec binding specificities, including the significance of fucosylation and of the sialyl-Tn epitope. Sialic acid-binding immunoglobulin superfamily lectins

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Dystrophin expression in the mdx mouse restored by stem cell transplantation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Gene transfer into skeletal muscles by isogenic myoblasts

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Expression of dystrophin-associated glycoproteins and utrophin in carriers of Duchenne muscular dystrophy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Interspecies comparison of muscle gangliosides by two-dimensional thin-layer chromatography

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Muscular dystrophy in a litter of golden retriever dogs

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2950110

Three mouse models of muscular dystrophy: the natural history of strength and fatigue in dystrophin-, dystrophin/utrophin-, and laminin α2-deficient mice

28 October 2018

1 reference

12 December 2020

Loss of myostatin attenuates severity of muscular dystrophy in mdx mice

1 reference

12 December 2020

Complement activation in muscle fiber necrosis: demonstration of the membrane attack complex of complement in necrotic fibers

1 reference

12 December 2020

Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin

1 reference

12 December 2020

Activated calcineurin ameliorates contraction-induced injury to skeletal muscles of mdx dystrophic mice

1 reference

12 December 2020

WW and EF hand domains of dystrophin-family proteins mediate dystroglycan binding

1 reference

12 December 2020

Long-term benefit from prednisone therapy in Duchenne muscular dystrophy

1 reference

12 December 2020

Tibialis anterior muscles in mdx mice are highly susceptible to contraction-induced injury

1 reference

12 December 2020

Mouse liver cytidine-5'-monophosphate-N-acetylneuraminic acid hydroxylase. Catalytic function and regulation

1 reference

12 December 2020

"Killer" cell activity in Duchenne muscular dystrophy

1 reference

12 December 2020

Dystrophin and utrophin bind actin through distinct modes of contact

1 reference

12 December 2020

Utrophin deficiency worsens cardiac contractile dysfunction present in dystrophin-deficient mdx mice

1 reference

12 December 2020

Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch

1 reference

12 December 2020

Expression of truncated utrophin leads to major functional improvements in dystrophin-deficient muscles of mice

1 reference

12 December 2020

Chronic exercise accelerates the degeneration-regeneration cycle and downregulates insulin-like growth factor-1 in muscle of mdx mice

1 reference

12 December 2020

The association of cardiac muscle necrosis and inflammation with the degenerative and persistent myopathy of MDX mice

1 reference

12 December 2020

Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse

1 reference

12 December 2020

The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy

1 reference

12 December 2020

Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse

1 reference

12 December 2020

Enhanced migration and fusion of donor myoblasts in dystrophic and normal host muscle

1 reference

12 December 2020

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

12 December 2020

Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy

1 reference

12 December 2020

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

1 reference

12 December 2020

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

1 reference

12 December 2020

Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings

1 reference

12 December 2020

Dystrophin-positive muscle fibers following C2 myoblast transplantation into mdx nude mice

1 reference

12 December 2020

Phenotype of dystrophinopathy in old MDX mice

51

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Dystrophin expression in the mdx mouse restored by stem cell transplantation

12 June 2024

82

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Do immune cells promote the pathology of dystrophin-deficient myopathies?

12 June 2024

120

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Regulatory interactions between muscle and the immune system during muscle regeneration

12 June 2024

121

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Inflammatory cell response to acute muscle injury.

12 June 2024

122

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

Pore formers of the immune system

12 June 2024

124

1 reference

https://api.crossref.org/works/10.1126/SCITRANSLMED.3000692

12 June 2024

Identifiers

1 reference

31 July 2017

1 reference

31 July 2017

1 reference