| 1 | LCCS4, MYBPC1
|
| MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
|
| Geist J, Kontrogianni-Konstantopoulos A.
|
| Front Physiol 7:410. doi: 10.3389/fphys.2016.00410. Review.
2016
|
| 2 | AMCD1B, MYBPC1
|
| 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.
|
| Clin Genet 90(1):84-9. doi: 10.1111/cge.12707.
2016
|
| 3 | AMCD1B, MYBPC1
|
| 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.
|
| PLoS One 10(2):e0117158. doi: 10.1371/journal.pone.0117158. Erratum in: PLoS One. 2015;10(5):e0125310.
2015
|
| 4 | MYBPC1, MYBPC2, MYBPC3
|
| Post-translational control of cardiac hemodynamics through myosin binding protein C.
|
| Gupta MK, Robbins J.
|
| Pflugers Arch 466(2):231-6. doi: 10.1007/s00424-013-1377-y. Review.
2014
|
| 5 | MYBPC1
|
| Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles.
|
| Ackermann MA, Kontrogianni-Konstantopoulos A.
|
| Front Physiol 4:391. doi: 10.3389/fphys.2013.00391.
2013
|
| 6 | AMCD1B, MYBPC1
|
| Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
|
| Ackermann MA, Patel PD, Valenti J, Takagi Y, Homsher E, Sellers JR, Kontrogianni-Konstantopoulos A.
|
| FASEB J 27(8):3217-28. doi: 10.1096/fj.13-228882.
2013
|
| 7 | MYBPC1
|
| MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
|
| Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA.
|
| Hum Mol Genet 22(24):4967-77. doi: 10.1093/hmg/ddt344.
2013
|
| 8 | LCCS4, 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.
|
| Hum Mutat 33(10):1435-8. doi: 10.1002/humu.22122.
2012
|
| 9 | CKM, MYBPC1
|
| 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.
|
| Biochem J 436(2):437-45.
2011
|
| 10 | AMCD1B, MYBPC1
|
| 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.
|
| Hum Mol Genet 19(7):1165-73. Epub 2010 Jan 2. 2010
|
| 11 | MYBPC1, OBSCN
|
| Obscurin interacts with a novel isoform of MyBP-C slow at the periphery of the sarcomeric M-band and regulates thick filament assembly.
|
| Ackermann MA, Hu LY, Bowman AL, Bloch RJ, Kontrogianni-Konstantopoulos A.
|
| Mol Biol Cell 20(12):2963-78. Epub 2009 Apr 29.
2009
|
| 12 | MYBPC1
|
| Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle.
|
| Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL.
|
| J Mol Biol 384(1):60-72. Epub 2008 Sep 16.
2008
|
| 13 | MYBPC1
|
| 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.
|
| Biochem J 401(1):97-102.
2007
|
| 14 | MYBPC1, FHL1
|
| Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly.
|
| McGrath MJ, Cottle DL, Nguyen MA, Dyson JM, Coghill ID, Robinson PA, Holdsworth M, Cowling BS, Hardeman EC, Mitchell CA, Brown S.
|
| J Biol Chem 281(11):7666-83. Epub 2006 Jan 9. 2006
|
| 15 | MYBPC1
|
| Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart.
|
| Dhoot GK, Perry SV.
|
| J Muscle Res Cell Motil 26(2-3):143-8. Epub 2005 Jul 1.
2005
|
| 16 | MYBPC1
|
| 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.
|
| J Am Coll Cardiol 41(5):781-6. 2003
|
| 17 | MYBPC1, MYBPC2, MYBPH
|
| The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells.
|
| Welikson RE, Fischman DA.
|
| J Cell Sci 115(Pt 17):3517-26.
2002
|
| 18 | MYBPC1, MYBPC2
|
| Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment.
|
| Weber FE, et al.
|
| Eur J Biochem 216 : 661-669. 1993
|
| 19 | MYBPC1
|
| Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA.
|
| Furst DO, Vinkemeier U, Weber K.
|
| J Cell Sci 102 ( Pt 4):769-78. 1992
|