Publications:

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry

Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J

Publication Date: 2021-07

Variant appearance in text: MYBPC3: 1880C>T

PubMed Link: 34097875

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 1
• main.pdf
• mmc1.pdf

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Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.

Esc Heart Failure

Kissopoulou, Antheia A; Trinks, Cecilia C; Green, Anna A; Karlsson, Jan-Erik JE; Jonasson, Jon J; Gunnarsson, Cecilia C

Publication Date: 2018-08

Variant appearance in text: MYBPC3: A627V

PubMed Link: 29663722

Variant Present in the following documents:

• EHF2-5-716.pdf

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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

European Journal Of Human Genetics : Ejhg

Wessels, Marja W MW; Herkert, Johanna C JC; Frohn-Mulder, Ingrid M IM; Dalinghaus, Michiel M; van den Wijngaard, Arthur A; de Krijger, Ronald R RR; Michels, Michelle M; de Coo, Irenaeus Fm IF; Hoedemaekers, Yvonne M YM; Dooijes, Dennis D

Publication Date: 2015-07

Variant appearance in text: MYBPC3: 1880C>T; Ala627Val

PubMed Link: 25335496

Variant Present in the following documents:

• Main text

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Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Journal Of Cellular Physiology

Roncarati, Roberta R; Latronico, Michael V G MV; Musumeci, Beatrice B; Aurino, Stefania S; Torella, Annalaura A; Bang, Marie-Louise ML; Jotti, Gloria Saccani GS; Puca, Annibale A AA; Volpe, Massimo M; Nigro, Vincenzo V; Autore, Camillo C; Condorelli, Gianluigi G

Publication Date: 2011-11

Variant appearance in text: MYBPC3: A627V

PubMed Link: 21302287

Variant Present in the following documents:

• jcp0226-2894.pdf

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The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.

European Journal Of Human Genetics : Ejhg

Møller, Daniel Vega DV; Andersen, Paal Skytt PS; Hedley, Paula P; Ersbøll, Mads Kristian MK; Bundgaard, Henning H; Moolman-Smook, Johanna J; Christiansen, Michael M; Køber, Lars L

Publication Date: 2009-10

Variant appearance in text: MYBPC3: A627V

PubMed Link: 19293840

Variant Present in the following documents:

• Main text

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