Journal articles on the topic 'Sarcomeric protein mutation'
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Becker, K. David, Kim R. Gottshall, Reed Hickey, Jean-Claude Perriard, and Kenneth R. Chien. "Point Mutations in Human β Cardiac Myosin Heavy Chain Have Differential Effects on Sarcomeric Structure and Assembly: An ATP Binding Site Change Disrupts Both Thick and Thin Filaments, Whereas Hypertrophic Cardiomyopathy Mutations Display Normal Assembly." Journal of Cell Biology 137, no. 1 (April 7, 1997): 131–40. http://dx.doi.org/10.1083/jcb.137.1.131.
Full textRiaz, Muhammad, Jinkyu Park, Lorenzo R. Sewanan, Yongming Ren, Jonas Schwan, Subhash K. Das, Pawel T. Pomianowski, et al. "Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy." Circulation 145, no. 16 (April 19, 2022): 1238–53. http://dx.doi.org/10.1161/circulationaha.121.056265.
Full textPiroddi, Nicoletta, E. Rosalie Witjas-Paalberends, Claudia Ferrara, Cecilia Ferrantini, Giulia Vitale, Beatrice Scellini, Paul J. M. Wijnker, et al. "The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM." Journal of General Physiology 151, no. 1 (December 21, 2018): 18–29. http://dx.doi.org/10.1085/jgp.201812160.
Full textChun, M., and S. Falkenthal. "Ifm(2)2 is a myosin heavy chain allele that disrupts myofibrillar assembly only in the indirect flight muscle of Drosophila melanogaster." Journal of Cell Biology 107, no. 6 (December 1, 1988): 2613–21. http://dx.doi.org/10.1083/jcb.107.6.2613.
Full textClay, Sarah A., Timothy L. Domeier, Laurin M. Hanft, Kerry S. McDonald, and Maike Krenz. "Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines." American Journal of Physiology-Heart and Circulatory Physiology 308, no. 9 (May 1, 2015): H1086—H1095. http://dx.doi.org/10.1152/ajpheart.00501.2014.
Full textMarcu, Andreea Sorina, Radu Vătăşescu, Sebastian Onciul, Viorica Rădoi, and Ruxandra Jurcuţ. "Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature." Life 12, no. 12 (December 18, 2022): 2136. http://dx.doi.org/10.3390/life12122136.
Full textOjala, Marisa, Chandra Prajapati, Risto-Pekka Pölönen, Kristiina Rajala, Mari Pekkanen-Mattila, Jyrki Rasku, Kim Larsson, and Katriina Aalto-Setälä. "Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Orα-Tropomyosin Mutation for Hypertrophic Cardiomyopathy." Stem Cells International 2016 (2016): 1–16. http://dx.doi.org/10.1155/2016/1684792.
Full textMasum, Md Mohiuddin, Md Abdullah Al Sayeef, Rayhan Shahrear, Devjani Banik, Gonopati Biswas, and Zinnat Ara Yesmin. "Hypertrophic Cardiomyopathy: The Molecular Genetics." Faridpur Medical College Journal 14, no. 1 (March 26, 2020): 44–49. http://dx.doi.org/10.3329/fmcj.v14i1.46168.
Full textAhmad, Syed Abrar, Chandrakant Chavan, Rajesh Badani, and Varsha Wankhade. "Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population." Cellular and Molecular Biology 67, no. 6 (February 27, 2022): 1–10. http://dx.doi.org/10.14715/cmb/2021.67.6.1.
Full textНиязова, С. С., Н. Н. Чакова, С. М. Комиссарова, and М. А. Сасинович. "Mutation spectrum in sarcomeric protein genes and their phenotypic features in Belarusian patients with hypertrophic cardiomyopathy." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 6() (June 28, 2019): 21–33. http://dx.doi.org/10.25557/2073-7998.2019.06.21-33.
Full textSmelter, Dan F., Willem J. de Lange, Wenxuan Cai, Ying Ge, and J. Carter Ralphe. "The HCM-linked W792R mutation in cardiac myosin-binding protein C reduces C6 FnIII domain stability." American Journal of Physiology-Heart and Circulatory Physiology 314, no. 6 (June 1, 2018): H1179—H1191. http://dx.doi.org/10.1152/ajpheart.00686.2017.
Full textRichard, Pascale, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne, et al. "Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy." Journal of Medical Genetics 36, no. 7 (July 1, 1999): 542–45. http://dx.doi.org/10.1136/jmg.36.7.542.
Full textRosen, Samantha M., Mugdha Joshi, Talia Hitt, Alan H. Beggs, and Pankaj B. Agrawal. "Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype." Human Molecular Genetics 29, no. 12 (March 11, 2020): 1996–2003. http://dx.doi.org/10.1093/hmg/ddaa035.
Full textKaneda, Tomoya, Chie Naruse, Atsuhiro Kawashima, Noboru Fujino, Toru Oshima, Masanobu Namura, Shinichi Nunoda, et al. "A novel β-myosin heavy chain gene mutation, p.Met531Arg, identified in isolated left ventricular non-compaction in humans, results in left ventricular hypertrophy that progresses to dilation in a mouse model." Clinical Science 114, no. 6 (February 12, 2008): 431–40. http://dx.doi.org/10.1042/cs20070179.
Full textBroughton, K. M., J. Li, E. Sarmah, C. M. Warren, Y. H. Lin, M. P. Henze, V. Sanchez-Freire, R. J. Solaro, and B. Russell. "A myosin activator improves actin assembly and sarcomere function of human-induced pluripotent stem cell-derived cardiomyocytes with a troponin T point mutation." American Journal of Physiology-Heart and Circulatory Physiology 311, no. 1 (July 1, 2016): H107—H117. http://dx.doi.org/10.1152/ajpheart.00162.2016.
Full textOno, Shoichiro, Kazumi Nomura, Sadae Hitosugi, Domena K. Tu, Jocelyn A. Lee, David L. Baillie, and Kanako Ono. "The two actin-interacting protein 1 genes have overlapping and essential function for embryonic development in Caenorhabditis elegans." Molecular Biology of the Cell 22, no. 13 (July 2011): 2258–69. http://dx.doi.org/10.1091/mbc.e10-12-0934.
Full textSchwäbe, Frederic V., Emanuel K. Peter, Manuel H. Taft, and Dietmar J. Manstein. "Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V." International Journal of Molecular Sciences 22, no. 21 (November 4, 2021): 11949. http://dx.doi.org/10.3390/ijms222111949.
Full textVaikhanskaya, T. G., L. N. Sivitskaya, T. V. Kurushko, T. V. Rusak, O. D. Levdansky, N. G. Danilenko, and O. G. Davydenko. "Non-compaction cardiomyopathy. Part I: clinical and genetic heterogeneity and predictors of unfavorable prognosis." Russian Journal of Cardiology 25, no. 11 (December 5, 2020): 3872. http://dx.doi.org/10.15829/29/1560-4071-2020-3872.
Full textViricel, Amélia, and Patricia E. Rosel. "Looking into a whale’s heart: investigating a genetic basis for cardiomyopathy in a non-model species." Genome 60, no. 8 (August 2017): 695–705. http://dx.doi.org/10.1139/gen-2016-0203.
Full textLu, Serena Huei-An, Kang-Zheng Lee, Paul Wei-Che Hsu, Liang-Yu Su, Yu-Chen Yeh, Chien-Yuan Pan, and Su-Yi Tsai. "Alternative Splicing Mediated by RNA-Binding Protein RBM24 Facilitates Cardiac Myofibrillogenesis in a Differentiation Stage-Specific Manner." Circulation Research 130, no. 1 (January 7, 2022): 112–29. http://dx.doi.org/10.1161/circresaha.121.320080.
Full textLange, Stephan, Sue Perera, Phildrich Teh, and Ju Chen. "Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover." Molecular Biology of the Cell 23, no. 13 (July 2012): 2490–504. http://dx.doi.org/10.1091/mbc.e12-01-0052.
Full textvan der Velden, Jolanda, and Ger J. M. Stienen. "Cardiac Disorders and Pathophysiology of Sarcomeric Proteins." Physiological Reviews 99, no. 1 (January 1, 2019): 381–426. http://dx.doi.org/10.1152/physrev.00040.2017.
Full textVANDIJK, S., D. DOOIJES, D. DEKKERS, J. LAMERS, F. TENCATE, G. STIENEN, and J. VANDERVELDEN. "Alterations in sarcomeric protein expression, phosphorylation and contractile function in hypertrophic cardiomyopathy patients carrying a founder mutation in myosin binding protein C." European Journal of Heart Failure Supplements 7 (June 2008): 30–31. http://dx.doi.org/10.1016/s1567-4215(08)60086-7.
Full textAdalsteinsdottir, Berglind, Michael Burke, Barry J. Maron, Ragnar Danielsen, Begoña Lopez, Javier Diez, Petr Jarolim, et al. "Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers." Open Heart 7, no. 1 (April 2020): e001220. http://dx.doi.org/10.1136/openhrt-2019-001220.
Full textEden, Matthias, and Norbert Frey. "Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy." Journal of Clinical Medicine 10, no. 4 (February 4, 2021): 577. http://dx.doi.org/10.3390/jcm10040577.
Full textCandasamy, Alexandra J., Robert S. Haworth, Friederike Cuello, Michael Ibrahim, Sriram Aravamudhan, Marcus Krüger, Mark R. Holt, et al. "Phosphoregulation of the Titin-cap Protein Telethonin in Cardiac Myocytes." Journal of Biological Chemistry 289, no. 3 (November 26, 2013): 1282–93. http://dx.doi.org/10.1074/jbc.m113.479030.
Full textDa'as, Sahar I., Khalid Fakhro, Angelos Thanassoulas, Navaneethakrishnan Krishnamoorthy, Alaaeldin Saleh, Brian L. Calver, Bared Safieh-Garabedian, et al. "Hypertrophic cardiomyopathy-linked variants of cardiac myosin-binding protein C3 display altered molecular properties and actin interaction." Biochemical Journal 475, no. 24 (December 14, 2018): 3933–48. http://dx.doi.org/10.1042/bcj20180685.
Full textAntoniutti, Guido, Fiama Giuliana Caimi-Martinez, Jorge Álvarez-Rubio, Paula Morlanes-Gracia, Jaume Pons-Llinares, Blanca Rodríguez-Picón, Elena Fortuny-Frau, Laura Torres-Juan, Damian Heine-Suner, and Tomas Ripoll-Vera. "Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7." Genes 13, no. 2 (February 9, 2022): 320. http://dx.doi.org/10.3390/genes13020320.
Full textZhou, Qifeng, Scott Kesteven, Jianxin Wu, Parwez Aidery, Meinrad Gawaz, Michael Gramlich, Michael P. Feneley, and Richard P. Harvey. "Pressure Overload by Transverse Aortic Constriction Induces Maladaptive Hypertrophy in a Titin-Truncated Mouse Model." BioMed Research International 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/163564.
Full textWarmke, J., M. Yamakawa, J. Molloy, S. Falkenthal, and D. Maughan. "Myosin light chain-2 mutation affects flight, wing beat frequency, and indirect flight muscle contraction kinetics in Drosophila." Journal of Cell Biology 119, no. 6 (December 15, 1992): 1523–39. http://dx.doi.org/10.1083/jcb.119.6.1523.
Full textCimiotti, Diana, Heidi Budde, Roua Hassoun, and Kornelia Jaquet. "Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach." International Journal of Molecular Sciences 22, no. 2 (January 8, 2021): 558. http://dx.doi.org/10.3390/ijms22020558.
Full textCimiotti, Diana, Heidi Budde, Roua Hassoun, and Kornelia Jaquet. "Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach." International Journal of Molecular Sciences 22, no. 2 (January 8, 2021): 558. http://dx.doi.org/10.3390/ijms22020558.
Full textBraun, T., E. Bober, M. A. Rudnicki, R. Jaenisch, and H. H. Arnold. "MyoD expression marks the onset of skeletal myogenesis in Myf-5 mutant mice." Development 120, no. 11 (November 1, 1994): 3083–92. http://dx.doi.org/10.1242/dev.120.11.3083.
Full textCho, J. H., Y. S. Oh, K. W. Park, J. Yu, K. Y. Choi, J. Y. Shin, D. H. Kim, et al. "Calsequestrin, a calcium sequestering protein localized at the sarcoplasmic reticulum, is not essential for body-wall muscle function in Caenorhabditis elegans." Journal of Cell Science 113, no. 22 (November 15, 2000): 3947–58. http://dx.doi.org/10.1242/jcs.113.22.3947.
Full textTucholski, Trisha, Wenxuan Cai, Zachery R. Gregorich, Elizabeth F. Bayne, Stanford D. Mitchell, Sean J. McIlwain, Willem J. de Lange, et al. "Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics." Proceedings of the National Academy of Sciences 117, no. 40 (September 23, 2020): 24691–700. http://dx.doi.org/10.1073/pnas.2006764117.
Full textCrocini, Claudia, and Michael Gotthardt. "Cardiac sarcomere mechanics in health and disease." Biophysical Reviews 13, no. 5 (October 2021): 637–52. http://dx.doi.org/10.1007/s12551-021-00840-7.
Full textClippinger, Sarah R., Paige E. Cloonan, Lina Greenberg, Melanie Ernst, W. Tom Stump, and Michael J. Greenberg. "Disrupted mechanobiology links the molecular and cellular phenotypes in familial dilated cardiomyopathy." Proceedings of the National Academy of Sciences 116, no. 36 (August 19, 2019): 17831–40. http://dx.doi.org/10.1073/pnas.1910962116.
Full textMalkovskiy, Andrey V., Nadezda Ignatyeva, Yuanyuan Dai, Gerd Hasenfuss, Jayakumar Rajadas, and Antje Ebert. "Integrated Ca2+ flux and AFM force analysis in human iPSC-derived cardiomyocytes." Biological Chemistry 402, no. 1 (November 18, 2020): 113–21. http://dx.doi.org/10.1515/hsz-2020-0212.
Full textNishikawa, Kiisa, Stan L. Lindstedt, Anthony Hessel, and Dhruv Mishra. "N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle." International Journal of Molecular Sciences 21, no. 11 (June 1, 2020): 3974. http://dx.doi.org/10.3390/ijms21113974.
Full textWernicke, Dirk, Corinna Thiel, Corina M. Duja-Isac, Kirill V. Essin, Matthias Spindler, Derek J. R. Nunez, Ralph Plehm, et al. "α-Tropomyosin mutations Asp175Asn and Glu180Gly affect cardiac function in transgenic rats in different ways." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 287, no. 3 (September 2004): R685—R695. http://dx.doi.org/10.1152/ajpregu.00620.2003.
Full textPasternak, C., S. Wong, and E. L. Elson. "Mechanical function of dystrophin in muscle cells." Journal of Cell Biology 128, no. 3 (February 1, 1995): 355–61. http://dx.doi.org/10.1083/jcb.128.3.355.
Full textDorsch, Schuldt, Remedios, Schinkel, Jong, Michels, Kuster, Brundel, and Velden. "Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy." Cells 8, no. 7 (July 18, 2019): 741. http://dx.doi.org/10.3390/cells8070741.
Full textFULLER, Stephen J., Elizabeth L. DAVIES, Judith GILLESPIE-BROWN, Hong SUN, and Nicholas K. TONKS. "Mitogen-activated protein kinase phosphatase 1 inhibits the stimulation of gene expression by hypertrophic agonists in cardiac myocytes." Biochemical Journal 323, no. 2 (April 15, 1997): 313–19. http://dx.doi.org/10.1042/bj3230313.
Full textHertig, C. M., M. Eppenberger-Eberhardt, S. Koch, and H. M. Eppenberger. "N-cadherin in adult rat cardiomyocytes in culture. I. Functional role of N-cadherin and impairment of cell-cell contact by a truncated N-cadherin mutant." Journal of Cell Science 109, no. 1 (January 1, 1996): 1–10. http://dx.doi.org/10.1242/jcs.109.1.1.
Full textBerger, Joachim, Silke Berger, Yu Shan G. Mok, Mei Li, Hakan Tarakci, and Peter D. Currie. "Genetic dissection of novel myopathy models reveals a role of CapZα and Leiomodin 3 during myofibril elongation." PLOS Genetics 18, no. 2 (February 11, 2022): e1010066. http://dx.doi.org/10.1371/journal.pgen.1010066.
Full textChang, Audrey N., and James D. Potter. "Sarcomeric Protein Mutations in Dilated Cardiomyopathy." Heart Failure Reviews 10, no. 3 (September 2005): 225–35. http://dx.doi.org/10.1007/s10741-005-5252-6.
Full textMcCarthy, John J., Jessica L. Andrews, Erin L. McDearmon, Kenneth S. Campbell, Brigham K. Barber, Brooke H. Miller, John R. Walker, John B. Hogenesch, Joseph S. Takahashi, and Karyn A. Esser. "Identification of the circadian transcriptome in adult mouse skeletal muscle." Physiological Genomics 31, no. 1 (September 2007): 86–95. http://dx.doi.org/10.1152/physiolgenomics.00066.2007.
Full textKontrogianni-Konstantopoulos, Aikaterini, Maegen A. Ackermann, Amber L. Bowman, Solomon V. Yap, and Robert J. Bloch. "Muscle Giants: Molecular Scaffolds in Sarcomerogenesis." Physiological Reviews 89, no. 4 (October 2009): 1217–67. http://dx.doi.org/10.1152/physrev.00017.2009.
Full textTsukamoto, Osamu. "Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies." International Journal of Molecular Sciences 21, no. 1 (December 28, 2019): 226. http://dx.doi.org/10.3390/ijms21010226.
Full textKazmierczak, Katarzyna, Priya Muthu, Wenrui Huang, Michelle Jones, Yingcai Wang, and Danuta Szczesna-Cordary. "Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice." Biochemical Journal 442, no. 1 (January 27, 2012): 95–103. http://dx.doi.org/10.1042/bj20111145.
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