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: 2155C>T; Arg719Trp
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03
Variant appearance in text: MYH7: 2155C>T; Arg719Trp; rs121913637
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.
Frontiers In Cell And Developmental Biology
Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM
Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.
Frontiers In Cardiovascular Medicine
Li, Xing X; Tang, Jie J; Li, Jinhui J; Lin, Sha S; Wang, Tao T; Zhou, Kaiyu K; Li, Yifei Y; Hua, Yimin Y
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01
Variant appearance in text: MYH7: 2155C>T; Arg719Trp
Sudden Cardiac Death Caused by a Fatal Association of Hypertrophic Cardiomyopathy (MYH7, p.Arg719Trp), Heterozygous Familial Hypercholesterolemia (LDLR, p.Gly343Lys) and SARS-CoV-2 B.1.1.7 Infection.
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
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: 2155C>T; Arg719Trp
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child.
Frontiers In Pediatrics
Zhang, Luyan L; Cheng, Xueying X; Chen, Jinlong J; Zhou, Ming M; Qian, Tianwei T; Zhang, Zhongman Z; Yin, Jie J; Zhang, Han H; Dai, Genyin G; Qin, Yuming Y; Yang, Shiwei S
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.
Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Circulation
Toepfer, Christopher N CN; Garfinkel, Amanda C AC; Venturini, Gabriela G; Wakimoto, Hiroko H; Repetti, Giuliana G; Alamo, Lorenzo L; Sharma, Arun A; Agarwal, Radhika R; Ewoldt, Jourdan F JF; Cloonan, Paige P; Letendre, Justin J; Lun, Mingyue M; Olivotto, Iacopo I; Colan, Steve S; Ashley, Euan E; Jacoby, Daniel D; Michels, Michelle M; Redwood, Charles S CS; Watkins, Hugh C HC; Day, Sharlene M SM; Staples, James F JF; Padrón, Raúl R; Chopra, Anant A; Ho, Carolyn Y CY; Chen, Christopher S CS; Pereira, Alexandre C AC; Seidman, Jonathan G JG; Seidman, Christine E CE
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.
Nature Communications
Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M
Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.
The Journal Of Biological Chemistry
Vera, Carlos D CD; Johnson, Chloe A CA; Walklate, Jonathan J; Adhikari, Arjun A; Svicevic, Marina M; Mijailovich, Srboljub M SM; Combs, Ariana C AC; Langer, Stephen J SJ; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA
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
Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM
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: 2155C>T; Arg719Trp
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: 2155C>T; Arg719Trp