| TCAP gene is not a common cause of cardiomyopathy in Iranian patients. | TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Alaei Z, Zamani N, Rabbani B, Mahdieh N., Free PMC Article | 12/20/2023 |
| The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. | The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Lv X, Lin F, Wu W, Wang H, Luo Y, Wang Z, Yan C, Lv H, Luo S, Lin P. | 07/28/2023 |
| Distal myopathy due to TCAP variants in four unrelated Chinese patients. | Distal myopathy due to TCAP variants in four unrelated Chinese patients.
Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C. | 11/22/2021 |
| Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells. | Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na(v) 1.5 currents in HEK-293 cells.
Turker I, Makiyama T, Ueyama T, Shimizu A, Yamakawa M, Chen PS, Vatta M, Horie M, Ai T. | 10/9/2021 |
| Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy. | Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.
Toste A, Perrot A, Özcelik C, Cardim N. | 08/28/2021 |
| limb-girdle muscular dystrophy type 2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation. | Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I. | 10/26/2019 |
| based on the crystal structure in which Z1Z2 and telethonin1-90 assemble into a 2:1 complex, a single chain fusion protein was designed, comprising two Z1Z2 modules that are connected by flexible linkers N- and C-terminally of the telethonin1-90. Expression of this fusion protein, named ZTZ, affords high yields of soluble expressed and purified protein | Expression and purification of a difficult sarcomeric protein: Telethonin.
Tan H, Su W, Wang P, Zhang W, Sattler M, Zou P. | 10/14/2017 |
| Data indicate LGMD2G protein TCAP association with limb girdle muscular dystrophy 2G (LGMD2G). | Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K., Free PMC Article | 04/25/2015 |
| Report TCAP mutations in dilated cardiomyopathy. | The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN.
Hirtle-Lewis M, Desbiens K, Ruel I, Rudzicz N, Genest J, Engert JC, Giannetti N., Free PMC Article | 05/31/2014 |
| cardiac telethonin is constitutively bis-phosphorylated and suggest that such phosphorylation is critical for normal telethonin function, which may include maintenance of transverse tubule organization and intracellular Ca(2+) transients. | Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.
Candasamy AJ, Haworth RS, Cuello F, Ibrahim M, Aravamudhan S, Krüger M, Holt MR, Terracciano CM, Mayr M, Gautel M, Avkiran M., Free PMC Article | 03/22/2014 |
| This study identified no pathogenic mutations in BAG3, MATR3, PTRF or TCAP in Australian muscular dystrophy. | A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF., Free PMC Article | 02/18/2012 |
| reduced expression of dystrophin and titin is associated with the pathophysiology of dilated cardiomyopathy, and TNF-alpha may modulate the expression of these proteins via NF-kappaB pathway. | Decreased myocardial expression of dystrophin and titin mRNA and protein in dilated cardiomyopathy: possibly an adverse effect of TNF-alpha.
Ahmad S, Rai TS, Khullar M, Bahl A, Saikia UN, Thungapathra M, Kumar RM, Mahajan R, Talwar KK. | 10/30/2010 |
| Observational study of genetic testing. (HuGE Navigator) | A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH., Free PMC Article | 06/30/2010 |
| Genetic studies of tcap in zebrafish suggested that pathogenesis in LGMD2G is due to a disruption of sarcomere-T-tubular interaction, but not of sarcomere assembly per se. | Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.
Zhang R, Yang J, Zhu J, Xu X., Free PMC Article | 03/1/2010 |
| Telethonin might be involved in CVB3-mediated cell damage and in the resulting cardiac dysfunction due to the interaction with Siva. | Proapoptotic protein Siva binds to the muscle protein telethonin in cardiomyocytes during coxsackieviral infection.
Mihatsch K, Nestler M, Saluz HP, Henke A, Munder T. | 01/21/2010 |
| telethonin is a sodium channel-interacting protein, and its mutations can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction | A mutation in telethonin alters Nav1.5 function.
Mazzone A, Strege PR, Tester DJ, Bernard CE, Faulkner G, De Giorgio R, Makielski JC, Stanghellini V, Gibbons SJ, Ackerman MJ, Farrugia G., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (7) articlesPhysiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
Ruaño G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR, Wu AH. Common susceptibility variants examined for association with dilated cardiomyopathy.
Rampersaud E, Kinnamon DD, Hamilton K, Khuri S, Hershberger RE, Martin ER. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
Bos JM, Theis JL, Tajik AJ, Gersh BJ, Ommen SR, Ackerman MJ. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
Benusiglio PR, Pharoah PD, Smith PL, Lesueur F, Conroy D, Luben RN, Dew G, Jordan C, Dunning A, Easton DF, Ponder BA. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A, Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A. | 03/13/2008 |
| Hypertension induced expression of prohypertrophic BMP10, and the hypertrophic effect of BMP10 was modulated, at least in part, by its binding to Tcap at the Z disc. | Interaction of BMP10 with Tcap may modulate the course of hypertensive cardiac hypertrophy.
Nakano N, Hori H, Abe M, Shibata H, Arimura T, Sasaoka T, Sawabe M, Chida K, Arai T, Nakahara K, Kubo T, Sugimoto K, Katsuya T, Ogihara T, Doi Y, Izumi T, Kimura A. | 01/21/2010 |
| TCAP mutations identified which are associated with hypertrophic cardiomyopathy. | Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A, Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A. | 01/21/2010 |
| The titin Z1Z2-telethonin complex resist considerable mechanical force through beta strand crosslinking, suggesting that telethonin is an important component of the N-terminal titin anchor. | Mechanical strength of the titin Z1Z2-telethonin complex.
Lee EH, Gao M, Pinotsis N, Wilmanns M, Schulten K. | 01/21/2010 |
| A dimer of two titin/telethonin complexes is formed within the crystal environment, potentially indicating the formation of higher oligomers. | Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus.
Pinotsis N, Petoukhov M, Lange S, Svergun D, Zou P, Gautel M, Wilmanns M. | 01/21/2010 |
| review of telethonin and other new proteins of the Z-disc of skeletal muscle | Telethonin and other new proteins of the Z-disc of skeletal muscle.
Faulkner G, Lanfranchi G, Valle G. | 01/21/2010 |
| telethonin may play a role in linking titin filaments at the Z-disk periphery | Solution scattering suggests cross-linking function of telethonin in the complex with titin.
Zou P, Gautel M, Geerlof A, Wilmanns M, Koch MH, Svergun DI. | 01/21/2010 |
| telethonin protein levels seems to be at least in part regulated by neuronal activity and is thus linked to the dynamic control of myofibrillogenesis and muscle turnover in human skeletal muscle. | Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy.
Schröder R, Reimann J, Iakovenko A, Mues A, Bönnemann CG, Matten J, Gautel M. | 01/21/2010 |
| Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus. | Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.
Katoh M, Katoh M. | 03/12/2004 |