Academic literature on the topic 'Sarcomeric protein mutation'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Sarcomeric protein mutation.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Journal articles on the topic "Sarcomeric protein mutation"
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 textDissertations / Theses on the topic "Sarcomeric protein mutation"
Bohman, Lova. "Pathological Mechanisms of Sarcomere Mutations in the Disease Hypertrophic Cardiomyopathy : A Review." Thesis, Linköpings universitet, Institutionen för fysik, kemi och biologi, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-176045.
Full textFERRARA, CLAUDIA. "Impact of sarcomeric protein mutations associated to myopathies on the mechanics and energetics of myofibril contraction." Doctoral thesis, 2013. http://hdl.handle.net/2158/803892.
Full textBooks on the topic "Sarcomeric protein mutation"
Pinto, Jose Renato, and P. Bryant Chase, eds. Connecting Sarcomere Protein Mutations to Pathogenesis in Myopathies. Frontiers Media SA, 2020. http://dx.doi.org/10.3389/978-2-88963-921-2.
Full textGarcia-Pavia, Pablo, and Fernando Dominguez. Left ventricular non-compaction: genetics and embryology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362.
Full textCardim, Nuno, Denis Pellerin, and Filipa Xavier Valente. Hypertrophic cardiomyopathy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198726012.003.0042.
Full textBook chapters on the topic "Sarcomeric protein mutation"
Kamisago, Mitsuhiro, Joachim P. Schmitt, Dennis McNamara, Christine Seidman, and J. G. Seidman. "Sarcomere Protein Gene Mutations and Inherited Heart Disease: A β Cardiac Myosin Heavy Chain Mutation Causing Endocardial Fibroelastosis and Heart Failure." In Novartis Foundation Symposia, 176–95. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/0470029331.ch11.
Full textCharron, Philippe, and Carole Maupain. "Genetics of cardiomyopathies: hypertrophic cardiomyopathy." In ESC CardioMed, 688–91. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0154.
Full textF. Wieczorek, David. "Cardiomyopathy: Getting Bigger All the Time - Lessons Learned about Heart Disease from Tropomyosin." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95509.
Full textLopes, Luis Rocha. "Dilated cardiomyopathy: genetics." In ESC CardioMed, 1467–73. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0355.
Full textAkhtar, Mohammed Majid, and Luis Rocha Lopes. "Hypertrophic cardiomyopathy: genetics." In ESC CardioMed, 1443–50. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0350.
Full textAkhtar, Mohammed Majid, and Luis Rocha Lopes. "Hypertrophic cardiomyopathy: genetics." In ESC CardioMed, 1443–50. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0350_update_001.
Full textM. Harvey, Evan, Murad Almasri, and Hugo R. Martinez. "Genetics of Cardiomyopathy." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97010.
Full textPurevjav, Enkhsaikhan, and Jeffrey A. Towbin. "The Z-Disk Final Common Pathway in Cardiomyopathies." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97532.
Full textGarcia-Pavia, Pablo, and Fernando Dominguez. "Left ventricular non-compaction: genetics and embryology." In ESC CardioMed, 1505–9. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362_update_001.
Full textPantazis, Antonis. "Hypertrophic Cardiomyopathy." In Manual of Cardiovascular Medicine, 313–20. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198850311.003.0038.
Full textConference papers on the topic "Sarcomeric protein mutation"
Athayde, Natália Merten, and Alzira Alves de Siqueira Carvalho. "The heart of myofibrillary myopathy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.457.
Full textProdanovic, Momcilo, Boban Stojanovic, Danica Prodanovic, Nenad Filipovic, and Srboljub M. Mijailovich. "Computational Modeling of Sarcomere Protein Mutations and Drug Effects on Cardiac Muscle Behavior." In 2021 IEEE 21st International Conference on Bioinformatics and Bioengineering (BIBE). IEEE, 2021. http://dx.doi.org/10.1109/bibe52308.2021.9635428.
Full text