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  • muscle
  • Extending this analysis to the Troponin I and Tropomyosin regulatory elements, the two other components of the muscle-regulatory complex, we have discovered a similar modular organization of phylogenetically conserved domains. (csic.es)
  • Tropomyosins are often categorised into two groups, muscle tropomyosin isoforms and nonmuscle tropomyosin isoforms. (wikipedia.org)
  • Nonmuscle tropomyosin isoforms function in all cells, both muscle and nonmuscle cells, and are involved in a range of cellular pathways that control and regulate the cell's cytoskeleton and other key cellular functions. (wikipedia.org)
  • gene
  • Background Two missense mutations in the gene for α-tropomyosin have been described that segregate with hypertrophic cardiomyopathy in single families. (ahajournals.org)
  • Conclusions De novo mutations in the α-tropomyosin gene can result in hypertrophic cardiomyopathy that may appear to be sporadic but in subsequent generations gives rise to familial disease. (ahajournals.org)
  • In addition, these findings provide the strongest genetic evidence that mutations in the α-tropomyosin gene are directly responsible for hypertrophic cardiomyopathy. (ahajournals.org)
  • Two different α-tropomyosin gene mutations have been identified in families with hypertrophic cardiomyopathy. (ahajournals.org)
  • 1 These data suggest that α-tropomyosin gene mutations are a cause of familial hypertrophic cardiomyopathy. (ahajournals.org)
  • However, some features of the mutations in the α-tropomyosin gene contrast with those of mutations in the other disease genes for hypertrophic cardiomyopathy. (ahajournals.org)
  • 4 5 We therefore have studied the proband with the Asp175Asn mutation, along r with all available family members (family DB), to determine whether the α-tropomyosin gene mutation arose de novo. (ahajournals.org)
  • Demonstration of a de novo occurrence in a family with hypertrophic cardiomyopathy of a mutation previously seen to segregate with disease provides the strongest evidence that the α-tropomyosin gene is itself a disease gene for hypertrophic cardiomyopathy. (ahajournals.org)
  • Exon 5 of the α-tropomyosin gene was amplified from genomic DNA of each family member by polymerase chain reaction (PCR) as described. (ahajournals.org)
  • Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer.This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. (acris-antibodies.com)
  • Tropomyosin alpha-3 chain is a protein that in humans is encoded by the TPM3 gene. (wikipedia.org)
  • mutations
  • 3 Because of the remote possibility that these α-tropomyosin mutations are only linked polymorphisms, further evidence demonstrating a cause-effect relation with hypertrophic cardiomyopathy would be desirable. (ahajournals.org)
  • Exon
  • Depending on which promoter and initial exon used, the tropomyosin isoforms can be categorized as either high-molecular-weight (HMW, 284 amino acids) or low-molecular-weight (LMW, 248). (wikipedia.org)
  • interaction
  • Our results are consistent with previous predictions based on electrostatic interaction energy landscapes determined by rigid-body translocation of tropomyosin. (rupress.org)
  • TPM2
  • Deletion of regions 2-3 in tropomyosin (zeige TPM2 Antikörper ) alpha resulted in an 60 % decrease in both isometric tension and stiffness of tropomyosin (zeige TPM2 Antikörper )-reconstituted myocardium. (antikoerper-online.de)
  • Tropomyosin (zeige TPM2 Antikörper ) is primarily responsible for the change in the kinetic constants of the elementary steps of the cross bridge cycle. (antikoerper-online.de)
  • tissues
  • Data indicate the upregulation of tropomyosin-4 in infiltrating ductal breast carcinomas (IDCAs) tissues, which may suggest its involvement in breast cancer development. (antibodies-online.com)