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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2002-6-11
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-10199978,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-10318859,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-10371075,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-10403775,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-10446041,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-11054877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-1315319,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-1555235,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-1748636,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-1839357,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-2116421,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-2503526,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-2821619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-3278318,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-3334715,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-3658675,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7481775,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7543316,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7544298,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7581448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7581449,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7607681,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7716514,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-7721841,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8034605,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8069911,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8126096,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8253814,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8282763,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8360188,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8567661,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8567725,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8626012,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8719886,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8810334,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-8841194,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9032047,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9224765,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9307969,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9312189,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9354797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9427295,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9473524,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9590299,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9674786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/12057917-9804951
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0002-9440
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pubmed:author |
pubmed-author:AngeliniCorradoC,
pubmed-author:CepollaroFulvioF,
pubmed-author:El-MesslemaniAbdul HassibAH,
pubmed-author:EngvallEvaE,
pubmed-author:FaninMarinaM,
pubmed-author:HoffmanEric PEP,
pubmed-author:MarinAlessandraA,
pubmed-author:PegoraroElenaE,
pubmed-author:PrandiniPaolaP,
pubmed-author:TaroneGuidoG,
pubmed-author:TrevisanCarlo PCP
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pubmed:issnType |
Print
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pubmed:volume |
160
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2135-43
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:12057917-Humans,
pubmed-meshheading:12057917-Infant,
pubmed-meshheading:12057917-Muscles,
pubmed-meshheading:12057917-Biopsy,
pubmed-meshheading:12057917-Muscular Dystrophies,
pubmed-meshheading:12057917-Child,
pubmed-meshheading:12057917-Mutation,
pubmed-meshheading:12057917-Child, Preschool,
pubmed-meshheading:12057917-Female,
pubmed-meshheading:12057917-Male,
pubmed-meshheading:12057917-RNA, Messenger,
pubmed-meshheading:12057917-Muscular Diseases,
pubmed-meshheading:12057917-Fluorescent Antibody Technique,
pubmed-meshheading:12057917-Restriction Mapping,
pubmed-meshheading:12057917-Down-Regulation,
pubmed-meshheading:12057917-Mutation, Missense,
pubmed-meshheading:12057917-Integrins,
pubmed-meshheading:12057917-Alternative Splicing,
pubmed-meshheading:12057917-Polymorphism, Single-Stranded Conformational
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