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
Publication Date: 2022-09-01
Variant appearance in text: MYBPC3: 814C>T; Arg272Cys
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07
Variant appearance in text: MYBPC3: 814C>T; Arg272Cys
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07
Variant appearance in text: MYBPC3: 814C>T; Arg272Cys
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05
Variant appearance in text: MYBPC3: 814C>T; Arg272Cys
Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.
Circulation. Heart Failure
Schuldt, Maike M; Pei, Jiayi J; Harakalova, Magdalena M; Dorsch, Larissa M LM; Schlossarek, Saskia S; Mokry, Michal M; Knol, Jaco C JC; Pham, Thang V TV; Schelfhorst, Tim T; Piersma, Sander R SR; Dos Remedios, Cris C; Dalinghaus, Michiel M; Michels, Michelle M; Asselbergs, Folkert W FW; Moutin, Marie-Jo MJ; Carrier, Lucie L; Jimenez, Connie R CR; van der Velden, Jolanda J; Kuster, Diederik W D DWD
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
European Journal Of Human Genetics : Ejhg
Verhagen, Judith M A JMA; Veldman, Job H JH; van der Zwaag, Paul A PA; von der Thüsen, Jan H JH; Brosens, Erwin E; Christiaans, Imke I; Dooijes, Dennis D; Helderman-van den Enden, Apollonia T J M ATJM; Lekanne Deprez, Ronald H RH; Michels, Michelle M; van Mil, Anneke M AM; Oldenburg, Rogier A RA; van der Smagt, Jasper J JJ; van den Wijngaard, Arthur A; Wessels, Marja W MW; Hofstra, Robert M W RMW; van Slegtenhorst, Marjon A MA; Jongbloed, Jan D H JDH; van de Laar, Ingrid M B H IMBH
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Journal Of The American College Of Cardiology
Ware, James S JS; Amor-Salamanca, Almudena A; Tayal, Upasana U; Govind, Risha R; Serrano, Isabel I; Salazar-Mendiguchía, Joel J; García-Pinilla, Jose Manuel JM; Pascual-Figal, Domingo A DA; Nuñez, Julio J; Guzzo-Merello, Gonzalo G; Gonzalez-Vioque, Emiliano E; Bardaji, Alfredo A; Manito, Nicolas N; López-Garrido, Miguel A MA; Padron-Barthe, Laura L; Edwards, Elizabeth E; Whiffin, Nicola N; Walsh, Roddy R; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Prasad, Sanjay S; Pantazis, Antonis A; Baski, John J; O'Regan, Declan P DP; Alonso-Pulpon, Luis L; Cook, Stuart A SA; Lara-Pezzi, Enrique E; Barton, Paul J PJ; Garcia-Pavia, Pablo P
Publication Date: 2018-05-22
Variant appearance in text: MYBPC3: 814C>T; Arg272Cys
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017
Variant appearance in text: MYBPC3: 814C>T; R272C; rs397516075
Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.
Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Cardiogenetics
Wells, Quinn S QS; Ausborn, Natalie L NL; Funke, Birgit H BH; Pfotenhauer, Jean P JP; Fredi, Joseph L JL; Baxter, Samantha S; Disalvo, Thomas D TD; Hong, Charles C CC
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
Bmc Medical Genetics
Teirlinck, Carolien H CH; Senni, Faïza F; Malti, Rajae El RE; Majoor-Krakauer, Danielle D; Fellmann, Florence F; Millat, Gilles G; André-Fouët, Xavier X; Pernot, François F; Stumpf, Michaël M; Boutarin, Jean J; Bouvagnet, Patrice P
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
Bmc Medical Genetics
Ehlermann, Philipp P; Weichenhan, Dieter D; Zehelein, Jörg J; Steen, Henning H; Pribe, Regina R; Zeller, Raphael R; Lehrke, Stephanie S; Zugck, Christian C; Ivandic, Boris T BT; Katus, Hugo A HA