Papers using
titin
antibodies
Papers on
titin
Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy.Koskenvuo et al., Helsinki, Finland. In Clin Genet, Feb 2016
UNASSIGNED: Dilated cardiomyopathy (DCM), a genetically heterogeneous cardiac disease characterized by left ventricular dilatation and systolic dysfunction, is caused majorly by truncations of titin (TTN), especially in A-band region.
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.IMAC-2 and IPAC Investigators et al., Singapore, Singapore. In N Engl J Med, Feb 2016
UNASSIGNED: Background Peripartum cardiomyopathy shares some clinical features with idiopathic dilated cardiomyopathy, a disorder caused by mutations in more than 40 genes, including TTN, which encodes the sarcomere protein titin.
Resuscitation of a dead cardiomyocyte.Tyagi et al., Louisville, United States. In Heart Fail Rev, Nov 2015
The activation of calpains beyond the calpastatin-mediated inhibition due to extensive calcium harbor can lead to titin degradation, damage to the sarcomere and contractile dysfunction.
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.Gerull, Calgary, Canada. In Can J Cardiol, Nov 2015
Truncating variants in TTN have been reported in about 25% of patients with DCM and in 2%-3% of controls; however, most of the disease-associated truncation variants were found in constitutively expressed exons across the gene and in A-band titin, which is abundant in both major cardiac isoforms N2B and N2BA.
Myofibrillar myopathies: State of the art, present and future challenges.Eymard et al., Paris, France. In Rev Neurol (paris), Oct 2015
The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, FLNC and BAG3) are now classically considered as responsible for MFM, other entities such as FHL1 myopathy or Hereditary Myopathy with Early Respiratory Failure linked to mutations of titin can now as well be included in this group.
The structure and regulation of human muscle α-actinin.Djinović-Carugo et al., Vienna, Austria. In Cell, 2015
The structure provides insight into the phosphoinositide-based mechanism controlling its interaction with sarcomeric proteins such as titin, lays a foundation for studying the impact of pathogenic mutations at molecular resolution, and is likely to be broadly relevant for the regulation of spectrin-like proteins.