ArticleThe American journal of pathology2002
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.
Article in The American journal of pathology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Mechanotransduction and Skeletal Muscle Atrophy: The Interplay Between Focal Adhesions and Oxidative Stress.International journal of molecular sciences · 2025Review
- Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.Journal of the American Heart Association · 2022Article
- Association between Decreased ITGA7 Levels and Increased Muscle α-Synuclein in an MPTP-Induced Mouse Model of Parkinson's Disease.International journal of molecular sciences · 2022Article
- Muscle stem cell polarity requires QKI-mediated alternative splicing of Integrin Alpha-7 (Itga7).Life science alliance · 2022Article
- Decrease inInternational journal of molecular sciences · 2021Article
- Humanizing the mdx mouse model of DMD: the long and the short of it.NPJ Regenerative medicine · 2018Review
- Deletion of integrin α7 subunit does not aggravate the phenotype of laminin α2 chain-deficient mice.Scientific reports · 2015Article
- Enter the matrix: shape, signal and superhighway.The FEBS journal · 2013Review
- Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.Matrix biology : journal of the International Society for Matrix Biology · 2012Article
- The development of the myotendinous junction. A review.Muscles, ligaments and tendons journal · 2012Article
- β1D chain increases α7β1 integrin and laminin and protects against sarcolemmal damage in mdx mice.Human molecular genetics · 2012Article
- Congenital muscular dystrophies: toward molecular therapeutic interventions.Current neurology and neuroscience reports · 2010Review
- Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.Human genetics · 2009Article
- Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.American journal of human genetics · 2008Article
- Exercise promotes alpha7 integrin gene transcription and protection of skeletal muscle.American journal of physiology. Regulatory, integrative and comparative physiology · 2008Article
- Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.Neuromuscular disorders : NMD · 2008Article
- Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression.American journal of physiology. Cell physiology · 2008Article
- Deletion of integrin-linked kinase from skeletal muscles of mice resembles muscular dystrophy due to alpha 7 beta 1-integrin deficiency.The American journal of pathology · 2007Article
- Transgenic expression of {alpha}7{beta}1 integrin maintains muscle integrity, increases regenerative capacity, promotes hypertrophy, and reduces cardiomyopathy in dystrophic mice.The American journal of pathology · 2005Article
- A novel marker of tissue junctions, collagen XXII.The Journal of biological chemistry · 2004Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
To investigate the role of integrin alpha 7 in muscle pathology, we used a "candidate gene" approach in a large cohort of muscular dystrophy/myopathy patients. Antibodies against the intracellular domain of the integrin alpha 7A and alpha 7B were used to stain muscle biopsies from 210 patients with muscular dystrophy/myopathy of unknown etiology. Levels of alpha 7A and alpha 7B integrin were found to be decreased in 35 of 210 patients (approximately 17%). In six of these patients no integrin alpha 7B was detected. Screening for alpha 7B mutation in 30 of 35 patients detected only one integrin alpha 7 missense mutation (the mutation on the second allele was not found) in a patient presenting with a congenital muscular dystrophy-like phenotype. No integrin alpha 7 gene mutations were identified in all of the other patients showing integrin alpha 7 deficiency. In the process of mutation analysis, we identified a novel integrin alpha 7 isoform presenting 72-bp deletion. This isoform results from a partial deletion of exon 21 due to the use of a cryptic splice site generated by a G to A missense mutation at nucleotide position 2644 in integrin alpha 7 cDNA. This spliced isoform is present in about 12% of the chromosomes studied. We conclude that secondary integrin alpha 7 deficiency is rather common in muscular dystrophy/myopathy of unknown etiology, emphasizing the multiple mechanisms that may modulate integrin function and stability.
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