BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

365 related articles for article (PubMed ID: 30456444)

  • 1. Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy.
    Glazier AA; Thompson A; Day SM
    Pflugers Arch; 2019 May; 471(5):781-793. PubMed ID: 30456444
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
    Helms AS; Davis FM; Coleman D; Bartolone SN; Glazier AA; Pagani F; Yob JM; Sadayappan S; Pedersen E; Lyons R; Westfall MV; Jones R; Russell MW; Day SM
    Circ Cardiovasc Genet; 2014 Aug; 7(4):434-43. PubMed ID: 25031304
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue.
    Wijnker PJ; Friedrich FW; Dutsch A; Reischmann S; Eder A; Mannhardt I; Mearini G; Eschenhagen T; van der Velden J; Carrier L
    J Mol Cell Cardiol; 2016 Aug; 97():82-92. PubMed ID: 27108529
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.
    Seeger T; Shrestha R; Lam CK; Chen C; McKeithan WL; Lau E; Wnorowski A; McMullen G; Greenhaw M; Lee J; Oikonomopoulos A; Lee S; Yang H; Mercola M; Wheeler M; Ashley EA; Yang F; Karakikes I; Wu JC
    Circulation; 2019 Feb; 139(6):799-811. PubMed ID: 30586709
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.
    Barefield D; Kumar M; Gorham J; Seidman JG; Seidman CE; de Tombe PP; Sadayappan S
    J Mol Cell Cardiol; 2015 Feb; 79():234-43. PubMed ID: 25463273
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
    Suay-Corredera C; Pricolo MR; Herrero-Galán E; Velázquez-Carreras D; Sánchez-Ortiz D; García-Giustiniani D; Delgado J; Galano-Frutos JJ; García-Cebollada H; Vilches S; Domínguez F; Molina MS; Barriales-Villa R; Frisso G; Sancho J; Serrano L; García-Pavía P; Monserrat L; Alegre-Cebollada J
    J Biol Chem; 2021 Jul; 297(1):100854. PubMed ID: 34097875
    [TBL] [Abstract][Full Text] [Related]  

  • 7. How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
    Marston S; Copeland O; Gehmlich K; Schlossarek S; Carrier L
    J Muscle Res Cell Motil; 2012 May; 33(1):75-80. PubMed ID: 22057632
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy.
    Parbhudayal RY; Garra AR; Götte MJW; Michels M; Pei J; Harakalova M; Asselbergs FW; van Rossum AC; van der Velden J; Kuster DWD
    J Mol Cell Cardiol; 2018 Oct; 123():59-63. PubMed ID: 30170119
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C.
    Suay-Corredera C; Alegre-Cebollada J
    FEBS Lett; 2022 Mar; 596(6):703-746. PubMed ID: 35224729
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy.
    Steczina S; Mohran S; Bailey LRJ; McMillen TS; Kooiker KB; Wood NB; Davis J; Previs MJ; Olivotto I; Pioner JM; Geeves MA; Poggesi C; Regnier M
    J Mol Cell Cardiol; 2024 Jun; 191():27-39. PubMed ID: 38648963
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.
    Cardim N; Perrot A; Santos S; Morgado P; Pádua M; Ferreira S; Reis RP; Monteiro C; Ferreira T; Correia JM; Osterziel KJ
    Rev Port Cardiol; 2005 Dec; 24(12):1463-76. PubMed ID: 16566405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction.
    Da'as SI; Fakhro K; Thanassoulas A; Krishnamoorthy N; Saleh A; Calver BL; Safieh-Garabedian B; Toft E; Nounesis G; Lai FA; Nomikos M
    Biochem J; 2018 Dec; 475(24):3933-3948. PubMed ID: 30446606
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.
    Barefield D; Kumar M; de Tombe PP; Sadayappan S
    Am J Physiol Heart Circ Physiol; 2014 Mar; 306(6):H807-15. PubMed ID: 24464755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spatial and Functional Distribution of
    Helms AS; Thompson AD; Glazier AA; Hafeez N; Kabani S; Rodriguez J; Yob JM; Woolcock H; Mazzarotto F; Lakdawala NK; Wittekind SG; Pereira AC; Jacoby DL; Colan SD; Ashley EA; Saberi S; Ware JS; Ingles J; Semsarian C; Michels M; Olivotto I; Ho CY; Day SM
    Circ Genom Precis Med; 2020 Oct; 13(5):396-405. PubMed ID: 32841044
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hypertrophic cardiomyopathy mutations in
    Toepfer CN; Wakimoto H; Garfinkel AC; McDonough B; Liao D; Jiang J; Tai AC; Gorham JM; Lunde IG; Lun M; Lynch TL; McNamara JW; Sadayappan S; Redwood CS; Watkins HC; Seidman JG; Seidman CE
    Sci Transl Med; 2019 Jan; 11(476):. PubMed ID: 30674652
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy.
    Helms AS; Tang VT; O'Leary TS; Friedline S; Wauchope M; Arora A; Wasserman AH; Smith ED; Lee LM; Wen XW; Shavit JA; Liu AP; Previs MJ; Day SM
    JCI Insight; 2020 Jan; 5(2):. PubMed ID: 31877118
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Activation of Autophagy Ameliorates Cardiomyopathy in
    Singh SR; Zech ATL; Geertz B; Reischmann-Düsener S; Osinska H; Prondzynski M; Krämer E; Meng Q; Redwood C; van der Velden J; Robbins J; Schlossarek S; Carrier L
    Circ Heart Fail; 2017 Oct; 10(10):. PubMed ID: 29021349
    [TBL] [Abstract][Full Text] [Related]  

  • 18. HSC70 is a chaperone for wild-type and mutant cardiac myosin binding protein C.
    Glazier AA; Hafeez N; Mellacheruvu D; Basrur V; Nesvizhskii AI; Lee LM; Shao H; Tang V; Yob JM; Gestwicki JE; Helms AS; Day SM
    JCI Insight; 2018 Jun; 3(11):. PubMed ID: 29875314
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.
    Monteiro da Rocha A; Guerrero-Serna G; Helms A; Luzod C; Mironov S; Russell M; Jalife J; Day SM; Smith GD; Herron TJ
    J Mol Cell Cardiol; 2016 Oct; 99():197-206. PubMed ID: 27620334
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
    Girolami F; Olivotto I; Passerini I; Zachara E; Nistri S; Re F; Fantini S; Baldini K; Torricelli F; Cecchi F
    J Cardiovasc Med (Hagerstown); 2006 Aug; 7(8):601-7. PubMed ID: 16858239
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.