MYH7 c.1324C>G ;(p.R442G)

Variant ID: 14-23898247-G-C

NM_000257.2(MYH7):c.1324C>G;(p.R442G)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Cardiac calcium regulation in human induced pluripotent stem cell cardiomyocytes: Implications for disease modeling and maturation.

Frontiers In Cell And Developmental Biology
Ernst, Patrick P; Bidwell, Philip A PA; Dora, Michaela M; Thomas, David D DD; Kamdar, Forum F
Publication Date: 2022

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 36742199
Variant Present in the following documents:
  • Main text
  • fcell-10-986107.pdf
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Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Frontiers In Cardiovascular Medicine
Shen, Hua H; Dong, Shi-Yong SY; Ren, Ming-Shi MS; Wang, Rong R
Publication Date: 2022

Variant appearance in text: MYH7: R442G
PubMed Link: 36061538
Variant Present in the following documents:
  • Main text
  • fcvm-09-949294.pdf
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Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Stem Cell Research & Therapy
Li, Jiangtao J; Feng, Xin X; Wei, Xiang X
Publication Date: 2022-06-03

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 35659761
Variant Present in the following documents:
  • Main text
  • 13287_2022_Article_2905.pdf
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Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.

Iscience
Meier, Anna B AB; Raj Murthi, Sarala S; Rawat, Hilansi H; Toepfer, Christopher N CN; Santamaria, Gianluca G; Schmid, Manuel M; Mastantuono, Elisa E; Schwarzmayr, Thomas T; Berutti, Riccardo R; Cleuziou, Julie J; Ewert, Peter P; Görlach, Agnes A; Klingel, Karin K; Laugwitz, Karl-Ludwig KL; Seidman, Christine E CE; Seidman, Jonathan G JG; Moretti, Alessandra A; Wolf, Cordula M CM
Publication Date: 2022-01-21

Variant appearance in text: MYH7: R442G
PubMed Link: 34988410
Variant Present in the following documents:
  • Main text
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Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.

Cells
Santini, Lorenzo L; Coppini, Raffaele R; Cerbai, Elisabetta E
Publication Date: 2021-10-18

Variant appearance in text: MYH7: R442G
PubMed Link: 34685769
Variant Present in the following documents:
  • Main text
  • cells-10-02789.pdf
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Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering.

Frontiers In Cell And Developmental Biology
Gähwiler, Eric K N EKN; Motta, Sarah E SE; Martin, Marcy M; Nugraha, Bramasta B; Hoerstrup, Simon P SP; Emmert, Maximilian Y MY
Publication Date: 2021

Variant appearance in text: MYH7: R442G
PubMed Link: 34262897
Variant Present in the following documents:
  • Main text
  • fcell-09-639699.pdf
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Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology
Jiang, Xue X; Chen, Yihuan Y; Liu, Xiaofeng X; Ye, Lingqun L; Yu, Miao M; Shen, Zhenya Z; Lei, Wei W; Hu, Shijun S
Publication Date: 2021

Variant appearance in text: MYH7: R442G
PubMed Link: 34079803
Variant Present in the following documents:
  • Main text
  • fcell-09-672039.pdf
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Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine
My, Ilaria I; Di Pasquale, Elisa E
Publication Date: 2021-03-09

Variant appearance in text: MYH7: R442G
PubMed Link: 33803477
Variant Present in the following documents:
  • Main text
  • jcm-10-01149.pdf
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Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences
Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O
Publication Date: 2020-10-03

Variant appearance in text: MYH7: R442G
PubMed Link: 33023024
Variant Present in the following documents:
  • Main text
  • ijms-21-07320.pdf
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Preventative therapeutic approaches for hypertrophic cardiomyopathy.

The Journal Of Physiology
Solomon, Tanya T; Filipovska, Aleksandra A; Hool, Livia L; Viola, Helena H
Publication Date: 2021-07

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 32822065
Variant Present in the following documents:
  • Main text
View BVdb publication page



INDUCED PLURIPOTENT STEM CELLS FOR MODELLING ENERGETIC ALTERATIONS IN HYPERTROPHIC CARDIOMYOPATHY.

Conditioning Medicine
Ramachandra, Chrishan J A CJA; Mai Ja, K P Myu KPM; Lin, Ying-Hsi YH; Shim, Winston W; Boisvert, William A WA; Hausenloy, Derek J DJ
Publication Date: 2019

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 32457935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences
Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H
Publication Date: 2019-09-06

Variant appearance in text: MYH7: R442G
PubMed Link: 31489928
Variant Present in the following documents:
  • Main text
  • ijms-20-04381.pdf
View BVdb publication page



Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.

The Journal Of Physiology
Sewanan, Lorenzo R LR; Campbell, Stuart G SG
Publication Date: 2020-07

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 30624779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Pflugers Archiv : European Journal Of Physiology
Eschenhagen, Thomas T; Carrier, Lucie L
Publication Date: 2019-05

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 30324321
Variant Present in the following documents:
  • Main text
View BVdb publication page



Concise Review: The Current State of Human In Vitro Cardiac Disease Modeling: A Focus on Gene Editing and Tissue Engineering.

Stem Cells Translational Medicine
Hoes, Martijn F MF; Bomer, Nils N; van der Meer, Peter P
Publication Date: 2019-01

Variant appearance in text: MYH7: R442G
PubMed Link: 30302938
Variant Present in the following documents:
  • Main text
  • SCT3-8-66.pdf
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Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation.

Stem Cell Reports
Li, Shishi S; Pan, Huaye H; Tan, Chao C; Sun, Yaping Y; Song, Yanrui Y; Zhang, Xuan X; Yang, Wei W; Wang, Xuexiang X; Li, Dan D; Dai, Yu Y; Ma, Qiang Q; Xu, Chenming C; Zhu, Xufen X; Kang, Lijun L; Fu, Yong Y; Xu, Xuejun X; Shu, Jing J; Zhou, Naiming N; Han, Feng F; Qin, Dajiang D; Huang, Wendong W; Liu, Zhong Z; Yan, Qingfeng Q
Publication Date: 2018-03-13

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 29456182
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc4.pdf
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Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.

Disease Models & Mechanisms
Brandão, Karina O KO; Tabel, Viola A VA; Atsma, Douwe E DE; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2017-09-01

Variant appearance in text: MYH7: R442G
PubMed Link: 28883014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls
Giacomelli, E E; Mummery, C L CL; Bellin, M M
Publication Date: 2017-10

Variant appearance in text: MYH7: R442G
PubMed Link: 28573431
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2546.pdf
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Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Frontiers In Physiology
Kraker, Jessica J; Viswanathan, Shiv Kumar SK; Knöll, Ralph R; Sadayappan, Sakthivel S
Publication Date: 2016

Variant appearance in text: MYH7: R442G
PubMed Link: 27840609
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews
Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC
Publication Date: 2016-07

Variant appearance in text: MYH7: R442G
PubMed Link: 27335446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.

Stem Cells International
Ojala, Marisa M; Prajapati, Chandra C; Pölönen, Risto-Pekka RP; Rajala, Kristiina K; Pekkanen-Mattila, Mari M; Rasku, Jyrki J; Larsson, Kim K; Aalto-Setälä, Katriina K
Publication Date: 2016

Variant appearance in text: MYH7: R442G
PubMed Link: 27057166
Variant Present in the following documents:
  • Main text
  • SCI2016-1684792.pdf
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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology
Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC
Publication Date: 2016-06

Variant appearance in text: MYH7: R442G
PubMed Link: 27009425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences
Tanaka, Atsushi A; Yuasa, Shinsuke S; Node, Koichi K; Fukuda, Keiichi K
Publication Date: 2015-08-12

Variant appearance in text: MYH7: R442G
PubMed Link: 26274955
Variant Present in the following documents:
  • ijms-16-18894-s001.xlsx, sheet 1
View BVdb publication page



Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Cardiovascular Research
Eschenhagen, Thomas T; Mummery, Christine C; Knollmann, Bjorn C BC
Publication Date: 2015-04-01

Variant appearance in text: MYH7: R442G
PubMed Link: 25618410
Variant Present in the following documents:
  • Main text
  • cvv017.pdf
View BVdb publication page



Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells.

Cardiovascular Research
Han, Lu L; Li, Yang Y; Tchao, Jason J; Kaplan, Aaron D AD; Lin, Bo B; Li, You Y; Mich-Basso, Jocelyn J; Lis, Agnieszka A; Hassan, Narmeen N; London, Barry B; Bett, Glenna C L GC; Tobita, Kimimasa K; Rasmusson, Randall L RL; Yang, Lei L
Publication Date: 2014-11-01

Variant appearance in text: MYH7: Arg442Gly
PubMed Link: 25209314
Variant Present in the following documents:
  • Main text
  • cvu205.pdf
View BVdb publication page