MYH7 c.2207T>C ;(p.I736T)

Variant ID: 14-23894983-A-G

NM_000257.2(MYH7):c.2207T>C;(p.I736T)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: I736T
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery
Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z
Publication Date: 2023-01-17

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 36646705
Variant Present in the following documents:
  • 41421_2022_490_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.

Journal Of Clinical Medicine
Melas, Marilena M; Beltsios, Eleftherios T ET; Adamou, Antonis A; Koumarelas, Konstantinos K; McBride, Kim L KL
Publication Date: 2022-12-28

Variant appearance in text: MYH7: Ile736Thr
PubMed Link: 36615026
Variant Present in the following documents:
  • Main text
  • jcm-12-00225.pdf
View BVdb publication page



The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Diagnostics (Basel, Switzerland)
Sepp, Róbert R; Hategan, Lidia L; Csányi, Beáta B; Borbás, János J; Tringer, Annamária A; Pálinkás, Eszter Dalma ED; Nagy, Viktória V; Takács, Hedvig H; Latinovics, Dóra D; Nyolczas, Noémi N; Pálinkás, Attila A; Faludi, Réka R; Rábai, Miklós M; Szabó, Gábor Tamás GT; Czuriga, Dániel D; Balogh, László L; Halmosi, Róbert R; Borbély, Attila A; Habon, Tamás T; Hegedűs, Zoltán Z; Nagy, István I
Publication Date: 2022-05-03

Variant appearance in text: MYH7: Ile736Thr
PubMed Link: 35626289
Variant Present in the following documents:
  • Main text
  • diagnostics-12-01132.pdf
View BVdb publication page



Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine
Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J
Publication Date: 2022-02

Variant appearance in text: MYH7: I736T
PubMed Link: 35284542
Variant Present in the following documents:
  • Main text
  • atm-10-03-129-supplementary.pdf
  • atm-10-03-129.pdf
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: I736T
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



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: Ile736Thr
PubMed Link: 34988410
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association
Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM
Publication Date: 2021-04-06

Variant appearance in text: MYH7: I736T
PubMed Link: 33764162
Variant Present in the following documents:
  • JAH3-10-e019944.pdf
  • JAH3-10-e019944-s001.pdf
View BVdb publication page



Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 33673806
Variant Present in the following documents:
  • 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 5
  • aba1773_Data_file_S1.xlsx, sheet 3
  • aba1773_Data_file_S1.xlsx, sheet 4
View BVdb publication page



Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.

Biophysical Reviews
Montag, Judith J; Kraft, Theresia T
Publication Date: 2020-08

Variant appearance in text: MYH7: I736T
PubMed Link: 32661905
Variant Present in the following documents:
  • Main text
  • 12551_2020_Article_719.pdf
View BVdb publication page



Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Journal Of Clinical Medicine
Magrì, Damiano D; Mastromarino, Vittoria V; Gallo, Giovanna G; Zachara, Elisabetta E; Re, Federica F; Agostoni, Piergiuseppe P; Giordano, Dario D; Rubattu, Speranza S; Forte, Maurizio M; Cotugno, Maria M; Torrisi, Maria Rosaria MR; Petrucci, Simona S; Germani, Aldo A; Savio, Camilla C; Maruotti, Antonello A; Volpe, Massimo M; Autore, Camillo C; Piane, Maria M; Musumeci, Beatrice B
Publication Date: 2020-05-28

Variant appearance in text: MYH7: Ile736Thr
PubMed Link: 32481709
Variant Present in the following documents:
  • Main text
  • jcm-09-01636.pdf
View BVdb publication page



Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Ren, Ming-Bao MB; Chai, Xiao-Rui XR; Li, Lin L; Wang, Xin X; Yin, Chenghong C
Publication Date: 2020-03

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 31960626
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1150.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MYH7: 2207T>C; I736T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2207T>C; I736T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 31110529
Variant Present in the following documents:
  • AMS-15-33903-S1.pdf
  • AMS-15-33903-S3.pdf
View BVdb publication page



Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 30775854
Variant Present in the following documents:
  • Main text
  • EHF2-6-436-s005.xlsx, sheet 1
View BVdb publication page



Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.

Pflugers Archiv : European Journal Of Physiology
Kraft, Theresia T; Montag, Judith J
Publication Date: 2019-05

Variant appearance in text: MYH7: I736T
PubMed Link: 30740621
Variant Present in the following documents:
  • Main text
  • 424_2019_Article_2260.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: I736T
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: MYH7: I736T
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page



Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition.

Nature Communications
Robert-Paganin, Julien J; Auguin, Daniel D; Houdusse, Anne A
Publication Date: 2018-10-01

Variant appearance in text: MYH7: I736T
PubMed Link: 30275503
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03

Variant appearance in text: MYH7: 2207T>C; I736T
PubMed Link: 29961767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I
Publication Date: 2019-02

Variant appearance in text: MYH7: 2207T>C; I736T
PubMed Link: 29875424
Variant Present in the following documents:
  • 41436_2018_46_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Journal Of Muscle Research And Cell Motility
Montag, Judith J; Syring, Mandy M; Rose, Julia J; Weber, Anna-Lena AL; Ernstberger, Pia P; Mayer, Anne-Kathrin AK; Becker, Edgar E; Keyser, Britta B; Dos Remedios, Cristobal C; Perrot, Andreas A; van der Velden, Jolanda J; Francino, Antonio A; Navarro-Lopez, Francesco F; Ho, Carolyn Yung CY; Brenner, Bernhard B; Kraft, Theresia T
Publication Date: 2017-08

Variant appearance in text: MYH7: I736T
PubMed Link: 29101517
Variant Present in the following documents:
  • Main text
  • 10974_2017_Article_9486.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: I736T
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MYH7: 2207T>C; Ile736Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: MYH7: I736T
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s004.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CMH1: I736T
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYH7: I736T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)
García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L
Publication Date: 2015-07

Variant appearance in text: MYH7: Ile736Thr
PubMed Link: 25935763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: MYH7: 2207T>C
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development.

Frontiers In Physiology
Brenner, Bernhard B; Seebohm, Benjamin B; Tripathi, Snigdha S; Montag, Judith J; Kraft, Theresia T
Publication Date: 2014

Variant appearance in text: MYH7: I736T
PubMed Link: 25346696
Variant Present in the following documents:
  • Main text
  • fphys-05-00392.pdf
View BVdb publication page



Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.

Frontiers In Physiology
Månsson, Alf A
Publication Date: 2014

Variant appearance in text: MYH7: Ile736Thr
PubMed Link: 25309450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell
Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC
Publication Date: 2014-01

Variant appearance in text: MYH7: I736T
PubMed Link: 24474197
Variant Present in the following documents:
  • 13238_2013_16_MOESM9_ESM.pdf
View BVdb publication page



Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

Basic Research In Cardiology
Tripathi, Snigdha S; Schultz, Imke I; Becker, Edgar E; Montag, Judith J; Borchert, Bianca B; Francino, Antonio A; Navarro-Lopez, Francisco F; Perrot, Andreas A; Özcelik, Cemil C; Osterziel, Karl-Josef KJ; McKenna, William J WJ; Brenner, Bernhard B; Kraft, Theresia T
Publication Date: 2011-11

Variant appearance in text: MYH7: I736T
PubMed Link: 21769673
Variant Present in the following documents:
  • Main text
  • 395_2011_Article_205.pdf
View BVdb publication page



Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.

Circulation. Heart Failure
Landstrom, Andrew P AP; Kellen, Cherisse A CA; Dixit, Sayali S SS; van Oort, Ralph J RJ; Garbino, Alejandro A; Weisleder, Noah N; Ma, Jianjie J; Wehrens, Xander H T XH; Ackerman, Michael J MJ
Publication Date: 2011-03

Variant appearance in text: MYH7: I736T
PubMed Link: 21216834
Variant Present in the following documents:
  • Main text
View BVdb publication page



The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

Experimental And Clinical Cardiology
Purushotham, G G; Madhumohan, K K; Anwaruddin, Mohammad M; Nagarajaram, Ha H; Hariram, Vuppaladadhiam V; Narasimhan, Calambur C; Bashyam, Murali D MD
Publication Date: 2010

Variant appearance in text: MYH7: I736T
PubMed Link: 20664766
Variant Present in the following documents:
  • Main text
View BVdb publication page



Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

Bmc Medical Genetics
Rodríguez-García, María Isabel MI; Monserrat, Lorenzo L; Ortiz, Martín M; Fernández, Xusto X; Cazón, Laura L; Núñez, Lucía L; Barriales-Villa, Roberto R; Maneiro, Emilia E; Veira, Elena E; Castro-Beiras, Alfonso A; Hermida-Prieto, Manuel M
Publication Date: 2010-04-30

Variant appearance in text: MYH7: I736T
PubMed Link: 20433692
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-67.pdf
View BVdb publication page



Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

Circulation. Heart Failure
Theis, Jeanne L JL; Bos, J Martijn JM; Theis, Jason D JD; Miller, Dylan V DV; Dearani, Joseph A JA; Schaff, Hartzell V HV; Gersh, Bernard J BJ; Ommen, Steve R SR; Moss, Richard L RL; Ackerman, Michael J MJ
Publication Date: 2009-07

Variant appearance in text: MYH7: I736T
PubMed Link: 19808356
Variant Present in the following documents:
  • Main text
View BVdb publication page