| Congenital tremor and myopathy secondary to novel MYBPC1 variant. | Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H, Smith IC, Kernohan KD, Sampaio M, Melkus G, Strasser L, Chisholm C, Huang L, Hanes I, Tran MA, Venkateswaran S, Muir K, Charlesworth L, Warman-Chardon J. | 02/22/2024 |
| A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. | A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, Kure S, Saito K, Uematsu M. | 08/7/2023 |
| MYBPC1 is a key regulator for laryngeal carcinoma formation. | MYBPC1 is a key regulator for laryngeal carcinoma formation.
Liu J, Song J, Li C., Free PMC Article | 12/24/2022 |
| Data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis. | Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A., Free PMC Article | 04/4/2020 |
| Two novel missense mutations in MYBPC1 were linked to a dominant, mild skeletal myopathy associated with a distinctive tremor. | Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG., Free PMC Article | 04/4/2020 |
| A novel milder MYBPC1 homozygous phenotype causes arthrogryposis multiplex congenita in a consanguineous Israeli Druze pedigree. | Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN. | 05/27/2017 |
| Ca(2+) modulates the interaction of cMyBP-C with the thin filament in the sarcomere. | C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.
Harris SP, Belknap B, Van Sciver RE, White HD, Galkin VE., Free PMC Article | 07/16/2016 |
| Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 were both found to occur in the C2 immunoglobulin domain, which constitutes part of the binding site for the S2 subfragment of myosin. | Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M., Free PMC Article | 02/6/2016 |
| Mutations in the MYH7 gene, rather than in the MYBPC3 gene, were also related to a worse prognosis. This is the first work characterizing HC molecular epidemiology in the Brazilian population for the 3 most important genes. | Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
Marsiglia JD, Credidio FL, de Oliveira TG, Reis RF, Antunes Mde O, de Araujo AQ, Pedrosa RP, Barbosa-Ferreira JM, Mady C, Krieger JE, Arteaga-Fernandez E, Pereira Ada C. | 12/7/2013 |
| Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1 | Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. | 07/6/2013 |
| Significant molecule MYBPC1 phosphoprotein network from 12 frontal cortex of HIV encephalitis (HIVE) control patients and 16 HIVE, was identified and constructed. | MYBPC1 computational phosphoprotein network construction and analysis between frontal cortex of HIV encephalitis (HIVE) and HIVE-control patients.
Wang L, Huang J, Jiang M, Sun L. | 07/23/2011 |
| MyBPC1 acts as an adaptor to connect the ATP consumer (myosin) and the regenerator (muscle type creatine kinase) for efficient energy metabolism and homoeostasis. | Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
Chen Z, Zhao TJ, Li J, Gao YS, Meng FG, Yan YB, Zhou HM. | 07/23/2011 |
| 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. (HuGE Navigator) | 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., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy. | Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB., Free PMC Article | 05/31/2010 |
| Screening patients with dilated cardiomyopathy, as well as hypertrophic cardiomyopathy, for this mutation is of signifiant importance with this mutation diagnosing dilated cardiomyopathy. | A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T, Shimizu M, Ino H, Matsuyama T, Yamaguchi M, Terai H, Hayashi K, Mabuchi T, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H. | 01/21/2010 |
| The present study demonstrates slow skeletal muscle type C-protein in moderate amount in right atrium and interatrial septum of adult human, rabbit, rat and bovine hearts using both immunocytochemical and immunoblotting procedures. | Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart.
Dhoot GK, Perry SV. | 01/21/2010 |
| to determine whether HCM mutations in beta myosin heavy chain located within the light meromyosin portion alter the binding of cMyBP-C, and to define the precise region of this binding. | Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.
Flashman E, Watkins H, Redwood C., Free PMC Article | 01/21/2010 |