Genomes and Genes
Summary: A giant elastic protein of molecular mass ranging from 2,993 kDa (cardiac), 3,300 kDa (psoas), to 3,700 kDa (soleus) having a kinase domain. The amino- terminal is involved in a Z line binding, and the carboxy-terminal region is bound to the myosin filament with an overlap between the counter-connectin filaments at the M line.
- Munoz V, Serrano L. Elucidating the folding problem of helical peptides using empirical parameters. III. Temperature and pH dependence. J Mol Biol. 1995;245:297-308 pubmed..The inclusion of these terms allow us to calculate the helical behaviour of polyalanine-based peptides, as well as of complex natural sequences, under different experimental conditions. ..
- Marx A, Osborn M, Tzartos S, Geuder K, Schalke B, Nix W, et al. A striational muscle antigen and myasthenia gravis-associated thymomas share an acetylcholine-receptor epitope. Dev Immunol. 1992;2:77-84 pubmed
- Golenhofen N, Htun P, Ness W, Koob R, Schaper W, Drenckhahn D. Binding of the stress protein alpha B-crystallin to cardiac myofibrils correlates with the degree of myocardial damage during ischemia/reperfusion in vivo. J Mol Cell Cardiol. 1999;31:569-80 pubmed..Ischemia-induced myofibrillar targeting of alpha B-crystallin probably requires additional structural and posttranslational modifications of myofibrillar components in juxtaposition to I-bands. ..
- Watanabe O, Maruyama I, Arimura K, Kitajima I, Arimura H, Hanatani M, et al. Overproduction of vascular endothelial growth factor/vascular permeability factor is causative in Crow-Fukase (POEMS) syndrome. Muscle Nerve. 1998;21:1390-7 pubmed..The principal isoform of VEGF in Crow-Fukase syndrome was VEGF165. Elevated VEGF was independent of M-protein. Our results suggest that the overproduction of VEGF is important in the pathogenesis of this disorder...
- Heidlauf T, Klotz T, Rode C, Siebert T, Röhrle O. A continuum-mechanical skeletal muscle model including actin-titin interaction predicts stable contractions on the descending limb of the force-length relation. PLoS Comput Biol. 2017;13:e1005773 pubmed publisher..This could be a key to durable functioning of the muscle because large local stretches, that might harm, for example, the transverse-tubule system, are avoided...
- Zhang C, Zhang H, Wu G, Luo X, Zhang C, Zou Y, et al. Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy. Can J Cardiol. 2017;33:1292-1297 pubmed publisher..6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P = 0.002). Our study suggests that TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. ..
- Linke W, Ivemeyer M, Olivieri N, Kolmerer B, Ruegg J, Labeit S. Towards a molecular understanding of the elasticity of titin. J Mol Biol. 1996;261:62-71 pubmed..when stretched and this property is thought to reside primarily within the giant filamentous protein, titin (connectin)...
- Mendes de Almeida R, Tavares J, Martins S, Carvalho T, Enguita F, Brito D, et al. Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. PLoS ONE. 2017;12:e0182946 pubmed publisher..Our data suggest that deep intronic variation contributes to HCM phenotype. ..
- Suktitipat B, Sathirareuangchai S, Roothumnong E, Thongnoppakhun W, Wangkiratikant P, Vorasan N, et al. Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome. PLoS ONE. 2017;12:e0180056 pubmed publisher..WES can help to identify the genetic causes in victims of SUDS and may help to further guide investigations into their relatives to prevent additional SUDS victims. ..
- König E, Volpato C, Motta B, Blankenburg H, Picard A, Pramstaller P, et al. Exploring digenic inheritance in arrhythmogenic cardiomyopathy. BMC Med Genet. 2017;18:145 pubmed publisher..In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model. ..
- Koskinen S, Kyrolainen H, Flink R, Selänne H, Gagnon S, Ahtiainen J, et al. Human skeletal muscle type 1 fibre distribution and response of stress-sensing proteins along the titin molecule after submaximal exhaustive exercise. Histochem Cell Biol. 2017;148:545-555 pubmed publisher..Activation of these proteins represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. ..
- Manteca A, Schönfelder J, Alonso Caballero A, Fertin M, Barruetabeña N, Faria B, et al. Mechanochemical evolution of the giant muscle protein titin as inferred from resurrected proteins. Nat Struct Mol Biol. 2017;24:652-657 pubmed publisher..We hypothesize that mechanical adjustments in titin contributed to physiological changes that allowed the muscular development and diversity of modern tetrapods. ..
- Hastings R, de Villiers C, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, et al. Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2016;9:426-435 pubmed..It furthermore highlights that rare titin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. ..
- Yang C, Yu T, Han C, Qin W, Liao X, Yu L, et al. Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China. Cell Physiol Biochem. 2017;42:1342-1357 pubmed publisher..Variants near TTN and CCDC8 were associated with MKI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in HBV-related HCC patients. ..
- Rassier D. Sarcomere mechanics in striated muscles: from molecules to sarcomeres to cells. Am J Physiol Cell Physiol. 2017;313:C134-C145 pubmed publisher..A common mechanism associated with sarcomere and half-sarcomere length nonuniformities and a Ca2+-induced increase in the stiffness of titin is proposed to explain observations that derive from these studies. ..