| pubmed-article:12057917 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12057917 | lifeskim:mentions | umls-concept:C0026848 | lld:lifeskim |
| pubmed-article:12057917 | lifeskim:mentions | umls-concept:C0026850 | lld:lifeskim |
| pubmed-article:12057917 | lifeskim:mentions | umls-concept:C0330390 | lld:lifeskim |
| pubmed-article:12057917 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:12057917 | lifeskim:mentions | umls-concept:C0292863 | lld:lifeskim |
| pubmed-article:12057917 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:12057917 | pubmed:dateCreated | 2002-6-11 | lld:pubmed |
| pubmed-article:12057917 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:12057917 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12057917 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12057917 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:12057917 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12057917 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:12057917 | pubmed:issn | 0002-9440 | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:TaroneGuidoG | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:EngvallEvaE | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:HoffmanEric... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:AngeliniCorra... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:PegoraroElena... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:CepollaroFulv... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:PrandiniPaola... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:MarinAlessand... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:FaninMarinaM | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:TrevisanCarlo... | lld:pubmed |
| pubmed-article:12057917 | pubmed:author | pubmed-author:El-Messlemani... | lld:pubmed |
| pubmed-article:12057917 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12057917 | pubmed:volume | 160 | lld:pubmed |
| pubmed-article:12057917 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12057917 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12057917 | pubmed:pagination | 2135-43 | lld:pubmed |
| pubmed-article:12057917 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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