Abnormalities - transcriptional, translational, and...

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Abnormalities Actin o So essential to cell that diseases due to mutation of cytoskeletal actin rarely seen Cardiac Actin o Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. Am J Med Genet. 1999 Oct 8;86(4):325-7. Tropomyosin o Clinical features of hypertrophic cardiomyopathy caused by mutation of a 'hot spot' in the alpha-tropomyosin gene. J. Am. Coll. Cardiol. 29: 635-640, 1997. o A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genet. 9: 75-79, 1995. Myosin o Association of unconventional myosin MYO15 mutations with human non-syndromic deafness DFNB3. Science 280: 1447-1451, 1998. Wasp o Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on
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Unformatted text preview: transcriptional, translational, and clinical phenotypes. • Destrin o Hum. Mutat. 14: 54-66, 1999. Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor). Hum Mol Genet. 2003 May 1;12(9):1029-37. • Filamin o Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91 • Genes and Diseases o http://www.ncbi.nlm.nih.gov/books/bookres.fcgi/gnd/tocstatic.html • OMIM - Online Mendelian Inheritance in Man o http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim...
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This document was uploaded on 11/03/2011 for the course BIOLOGY BSC1105 at Broward College.

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Abnormalities - transcriptional, translational, and...

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