| Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains. | Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Yampolskaya DS, Kopylova GV, Shchepkin DV, Bershitsky SY, Matyushenko AM, Levitsky DI. | 12/24/2022 |
| Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. | Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H., Free PMC Article | 06/12/2021 |
| The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians. | A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Rani DS, Nallari P, Rani J, Nizamuddin S, Seelamneni T, Narasimhan C, Thangaraj K. | 09/14/2019 |
| In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy | Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
Nomura A, Tada H, Teramoto R, Konno T, Hodatsu A, Won HH, Kathiresan S, Ino H, Fujino N, Yamagishi M, Hayashi K. | 08/20/2016 |
| This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy. | Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE., Free PMC Article | 02/11/2012 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I. | 06/30/2010 |
| Cell-permeable peptide containing the 15 amino acid N-terminal peptide from human ventricular light chain-1 (VLC-1) enhanced myocardial contractility. | Modulation of muscle contraction by a cell-permeable peptide.
Tünnemann G, Karczewski P, Haase H, Cardoso MC, Morano I., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (8) articlesPrevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ, Elliott PM. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations.
McLeod CJ, Bos JM, Theis JL, Edwards WD, Gersh BJ, Ommen SR, Ackerman MJ. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
Bos JM, Theis JL, Tajik AJ, Gersh BJ, Ommen SR, Ackerman MJ. Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. | 03/13/2008 |
| Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) | Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ. | 03/13/2008 |
| N-fragment is the binding domain of human ventricular LC1, whereas the C-fragment serves as a functional domain, which may be more involved in the modulation of the actin-activated ATPase activity of myosin | The functional domains of human ventricular myosin light chain 1.
Xie B, Huang R, Huang L, Zhou G, Gong Z. | 01/21/2010 |
| mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations | Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
Andersen PS, Havndrup O, Bundgaard H, Moolman-Smook JC, Larsen LA, Mogensen J, Brink PA, Børglum AD, Corfield VA, Kjeldsen K, Vuust J, Christiansen M., Free PMC Article | 01/21/2010 |