BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 27429059)

  • 1. 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
    Biochemistry; 2016 Aug; 55(32):4560-7. PubMed ID: 27429059
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T.
    Mondal A; Jin JP
    Front Physiol; 2016; 7():449. PubMed ID: 27790152
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.
    Oki K; Wei B; Feng HZ; Jin JP
    J Physiol; 2019 Aug; 597(15):3999-4012. PubMed ID: 31148174
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
    Wang X; Huang QQ; Breckenridge MT; Chen A; Crawford TO; Morton DH; Jin JP
    J Biol Chem; 2005 Apr; 280(14):13241-9. PubMed ID: 15665378
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue.
    Wei B; Lu Y; Jin JP
    J Physiol; 2014 Mar; 592(6):1367-80. PubMed ID: 24445317
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
    Jin JP; Brotto MA; Hossain MM; Huang QQ; Brotto LS; Nosek TM; Morton DH; Crawford TO
    J Biol Chem; 2003 Jul; 278(28):26159-65. PubMed ID: 12732643
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    J Med Genet; 2021 Sep; 58(9):602-608. PubMed ID: 32994279
    [TBL] [Abstract][Full Text] [Related]  

  • 8. N-Terminal Hypervariable Region of Muscle Type Isoforms of Troponin T Differentially Modulates the Affinity of Tropomyosin-Binding Site 1.
    Amarasinghe C; Jin JP
    Biochemistry; 2015 Jun; 54(24):3822-30. PubMed ID: 26024675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. TNNT1 nemaline myopathy: natural history and therapeutic frontier.
    Fox MD; Carson VJ; Feng HZ; Lawlor MW; Gray JT; Brigatti KW; Jin JP; Strauss KA
    Hum Mol Genet; 2018 Sep; 27(18):3272-3282. PubMed ID: 29931346
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
    Wang G; Zhao D; Yan C; Lin P
    J Hum Genet; 2023 Feb; 68(2):97-101. PubMed ID: 36446828
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
    Marra JD; Engelstad KE; Ankala A; Tanji K; Dastgir J; De Vivo DC; Coffee B; Chiriboga CA
    Muscle Nerve; 2015 May; 51(5):767-72. PubMed ID: 25430424
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.
    Streff H; Bi W; Colón AG; Adesina AM; Miyake CY; Lalani SR
    Eur J Med Genet; 2019 Nov; 62(11):103567. PubMed ID: 30395933
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    Muscle Nerve; 2016 Apr; 53(4):564-9. PubMed ID: 26296490
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
    Johnston JJ; Kelley RI; Crawford TO; Morton DH; Agarwala R; Koch T; Schäffer AA; Francomano CA; Biesecker LG
    Am J Hum Genet; 2000 Oct; 67(4):814-21. PubMed ID: 10952871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle.
    Feng HZ; Wei B; Jin JP
    J Biol Chem; 2009 Nov; 284(46):31798-806. PubMed ID: 19797054
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
    Konersman CG; Freyermuth F; Winder TL; Lawlor MW; Lagier-Tourenne C; Patel SB
    Mol Genet Genomic Med; 2017 Nov; 5(6):678-691. PubMed ID: 29178646
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Role of troponin T in disease.
    Gomes AV; Barnes JA; Harada K; Potter JD
    Mol Cell Biochem; 2004 Aug; 263(1-2):115-29. PubMed ID: 15524172
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
    D'Amico A; Fattori F; Fiorillo C; Paglietti MG; Testa MBC; Verardo M; Catteruccia M; Bruno C; Bertini E
    Neuromuscul Disord; 2019 Oct; 29(10):766-770. PubMed ID: 31604653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Conformational modulation of slow skeletal muscle troponin T by an NH(2)-terminal metal-binding extension.
    Jin JP; Chen A; Ogut O; Huang QQ
    Am J Physiol Cell Physiol; 2000 Oct; 279(4):C1067-77. PubMed ID: 11003587
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Localization of the two tropomyosin-binding sites of troponin T.
    Jin JP; Chong SM
    Arch Biochem Biophys; 2010 Aug; 500(2):144-50. PubMed ID: 20529660
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.