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    TNNT1 troponin T1, slow skeletal type [ Homo sapiens (human) ]

    Gene ID: 7138, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

    WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
    Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW., Free PMC Article

    11/18/2023
    Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.

    Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.
    Huang SC, Huang CC, Ko CY, Huang CY, Liu CH, Lee YK, Chen TY, Hsueh CW, Tzou SJ, Tai MH, Hu TH, Tsai MC, Lee WC, Ho YC, Wu CC, Chang YC, Chang JJ, Liu KH, Li CC, Wen ZH, Chang CL, Chu TH.

    03/23/2023
    TNNT1 myopathy with novel compound heterozygous mutations.

    TNNT1 myopathy with novel compound heterozygous mutations.
    Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH.

    04/30/2022
    Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.

    Biomarkers-in-Cardiology 8 RE-VISITED-Consistent Safety of Early Discharge with a Dual Marker Strategy Combining a Normal hs-cTnT with a Normal Copeptin in Low-to-Intermediate Risk Patients with Suspected Acute Coronary Syndrome-A Secondary Analysis of the Randomized Biomarkers-in-Cardiology 8 Trial.
    Giannitsis E, Garfias-Veitl T, Slagman A, Searle J, Müller C, Blankenberg S, von Haehling S, Katus HA, Hamm CW, Huber K, Vollert JO, Möckel M., Free PMC Article

    02/26/2022
    Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.

    Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
    Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C., Free PMC Article

    02/26/2022
    TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.

    TNNT1, negatively regulated by miR-873, promotes the progression of colorectal cancer.
    Chen Y, Wang J, Wang D, Kang T, Du J, Yan Z, Chen M., Free PMC Article

    05/15/2021
    Troponin T but not C reactive protein is associated with future surgery for aortic stenosis: a population-based nested case-referent study.

    Troponin T but not C reactive protein is associated with future surgery for aortic stenosis: a population-based nested case-referent study.
    Holmgren A, Ljungberg J, Hultdin J, Johansson B, Bergdahl IA, Näslund U, Söderberg S., Free PMC Article

    02/13/2021
    Three adults and 1 child shared a novel missense homozygous variant in the TNNT1 gene (NM_003283.6: c.287T > C; p.Leu96Pro). This study expands the phenotypic spectrum of TNNT1 myopathy.

    Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
    Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N., Free PMC Article

    08/1/2020
    These findings indicated that TNNT1 may promote the progression of colon adenocarcinoma, mediating epithelial-mesenchymal transition process, and thus shed a novel light on colon adenocarcinoma therapeutic treatments.

    TNNT1, a prognostic indicator in colon adenocarcinoma, regulates cell behaviors and mediates EMT process.
    Hao YH, Yu SY, Tu RS, Cai YQ.

    01/18/2020
    In a nationwide cohort in Sweden, patients with a first myocardial infarction had increased levels of Troponin T.

    High-Sensitivity Troponins and Outcomes After Myocardial Infarction.
    Odqvist M, Andersson PO, Tygesen H, Eggers KM, Holzmann MJ.

    08/17/2019
    Similar functional and histological phenotypes were observed in other human cohorts and two transgenic murine models (Tnnt1-/- and Tnnt1 c.505G>T). These findings have implications for emerging molecular therapies, including the suitably of TNNT1 gene replacement for newborns with 'Amish' nemaline myopathy or other TNNT1-associated myopathies.

    TNNT1 nemaline myopathy: natural history and therapeutic frontier.
    Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA., Free PMC Article

    03/16/2019
    High TNNT1 expression is associated with breast cancer.

    TNNT1 facilitates proliferation of breast cancer cells by promoting G(1)/S phase transition.
    Shi Y, Zhao Y, Zhang Y, AiErken N, Shao N, Ye R, Lin Y, Wang S.

    09/8/2018
    This study describes the first TNNT1 mutation that transmits in an autosomal dominant fashion to cause nemaline myopathy.

    Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
    Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB., Free PMC Article

    02/24/2018
    investigated the effects of one of these mutations, K247R of TnT, on the picosecond dynamics of the Tn core domain (Tn-CD), consisting of TnC, TnI and TnT2 (183-288 residues of TnT), by carrying out the quasielastic neutron scattering measurements on the reconstituted Tn-CD containing either the wild-type TnT2 (wtTn-CD) or the mutant TnT2 (K247R-Tn-CD) in the absence and presence of Ca(2+)

    Modulation of the picosecond dynamics of troponin by the cardiomyopathy-causing mutation K247R of troponin T observed by quasielastic neutron scattering.
    Matsuo T, Tominaga T, Kono F, Shibata K, Fujiwara S.

    12/23/2017
    Data suggest that mutations in troponin C (TnC, A8V) and troponin T (TnT, delta14-TnT) found in patients with hypertrophic cardiomyopathy together fully stabilize the active M state of regulated actin (the actin-tropomyosin-troponin complex).

    Troponin C Mutations Partially Stabilize the Active State of Regulated Actin and Fully Stabilize the Active State When Paired with Δ14 TnT.
    Baxley T, Johnson D, Pinto JR, Chalovich JM., Free PMC Article

    07/8/2017
    pathogenesis of TNNT1 myopathies

    Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.
    Amarasinghe C, Hossain MM, Jin JP.

    05/6/2017
    Copeptin and troponin T measurement could potentially improve the prehospital diagnostic and prognostic classification of patients with a suspected AMI.

    The potential of optimizing prehospital triage of patients with suspected acute myocardial infarction using high-sensitivity cardiac troponin T and copeptin.
    Stengaard C, Sørensen JT, Ladefoged SA, Lassen JF, Rasmussen MB, Pedersen CK, Ayer A, Bøtker HE, Terkelsen CJ, Thygesen K.

    04/29/2017
    TNNT1 genetic and epigenetic variations are associated with HDL-C levels and coronary artery disease.

    Epigenetic and genetic variations at the TNNT1 gene locus are associated with HDL-C levels and coronary artery disease.
    Guay SP, Légaré C, Brisson D, Mathieu P, Bossé Y, Gaudet D, Bouchard L.

    02/4/2017
    Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT.

    TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
    Wei B, Jin JP., Free PMC Article

    08/6/2016
    Nemaline body myopathy Palestinian patients were found to have a novel mutation in troponin T1.

    Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
    Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A, Elpeleg O, Edvardson S.

    07/30/2016
    troponin T and creatinine kinase isoenzyme (CK-MB) have roles in combined renal and myocardial injuries in asphyxiated infants

    The diagnostic value of both troponin T and creatinine kinase isoenzyme (CK-MB) in detecting combined renal and myocardial injuries in asphyxiated infants.
    Sadoh WE, Eregie CO, Nwaneri DU, Sadoh AE., Free PMC Article

    01/30/2016
    Biopsy-proven acute and viral myocarditis is associated with elevated concentrations of hs-TnT.

    Diagnostic and prognostic validity of different biomarkers in patients with suspected myocarditis.
    Ukena C, Kindermann M, Mahfoud F, Geisel J, Lepper PM, Kandolf R, Böhm M, Kindermann I.

    09/5/2015
    Troponin T1 blood levels had a positive association with increased risk for hypertrophic cardiomyopathy.

    Use of a highly-sensitive cardiac troponin I assay in a screening population for hypertrophic cardiomyopathy: a case-referent study.
    McGorrian CM, Lyster S, Roy A, Tarrant H, Codd M, Doran P, Fitzgibbon M, Galvin J, Mahon NG., Free PMC Article

    04/26/2014
    TNNT1 DNA methylation levels were positively correlated with mean HDL particle size, HDL-phospholipid, HDL-apolipoprotein AI, HDL-C and TNNT1 expression levels.

    Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration.
    Guay SP, Voisin G, Brisson D, Munger J, Lamarche B, Gaudet D, Bouchard L.

    05/25/2013
    Human slow skeletal troponin T (HSSTnT) isoforms, despite being homologues of cardiac TnT may display distinct functional properties in muscle regulation.

    The functional properties of human slow skeletal troponin T isoforms in cardiac muscle regulation.
    Pinto JR, Gomes AV, Jones MA, Liang J, Nguyen S, Miller T, Parvatiyar MS, Potter JD., Free PMC Article

    01/12/2013
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