Concepedia

Mybpc3 Mutations

MYBPC3 Mutations is a genetic alteration in the MYBPC3 gene, which encodes cardiac myosin-binding protein C, distinguished by its causal association with autosomal dominant hypertrophic cardiomyopathy due to truncating or missense variants affecting sarcomere function.

270

Publications

17.7K

Citations

2.2K

Authors

645

Institutions

Publications per year

2017–2026

107

Parents

Publications

270

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Sara L. Van Driest, Vlad C. Vasile, Steve R. Ommen et al. · Journal of the American College of Cardiology · 2004 · 427 citations

, , +14

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

Hiroyuki Morita, Heidi L. Rehm, Andres Menesses et al. · New England Journal of Medicine · 2008 · 410 citations · Full text

, , +16

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

Sabine J. van Dijk, Dennis Dooijes, Cristobal G. dos Remedios et al. · Circulation · 2009 · 330 citations · Full text

, , +13

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Iacopo Olivotto, Francesca Girolami, Michael J. Ackerman et al. · Mayo Clinic Proceedings · 2008 · 325 citations

, , +12

Organization and Sequence of Human Cardiac Myosin Binding Protein C Gene (MYBPC3) and Identification of Mutations Predicted to Produce Truncated Proteins in Familial Hypertrophic Cardiomyopathy

Lucie Carrier, Gisèle Bonne, Ellen Bährend et al. · Circulation Research · 1997 · 302 citations

, , +13

1–5 of 270

Authors

2.2K

  1. LC
    Lucie Carrier

    Universität Hamburg, Germany

    31 publications · 2.8K citations

    24

    h-index

  2. JV
    Jolanda van der Velden

    Amsterdam UMC Location Vrije Universiteit Amsterdam, Netherlands

    19 publications · 1.6K citations

    18

    h-index

  3. SS
    Sakthivel Sadayappan

    Loyola University Chicago, United States

    17 publications · 1.5K citations

    16

    h-index

  4. MM
    Michelle Michels

    Erasmus MC, Netherlands

    16 publications · 1.5K citations

    15

    h-index

  5. IO
    Iacopo Olivotto

    Azienda Ospedaliero-Universitaria Careggi, Italy

    15 publications · 1.5K citations

    14

    h-index

1–5 of 2.2K

Institutions

645

  1. Universität Hamburg

    Hamburg, Germany

    20 h-index

    185 publications

    17.6K citations

  2. University Medical Center Hamburg-Eppendorf

    Hamburg, Germany

    20 h-index

    171 publications

    15.1K citations

  3. German Centre for Cardiovascular Research

    Berlin, Germany

    18 h-index

    141 publications

    11.4K citations

  4. Inserm

    Paris, France

    16 h-index

    106 publications

    17.2K citations

  5. Loyola University Chicago

    Chicago, United States

    14 h-index

    71 publications

    5.4K citations

  6. Amsterdam UMC Location Vrije Universiteit Amsterdam

    Amsterdam, The Netherlands

    14 h-index

    97 publications

    9.8K citations

  7. The University of Sydney

    Sydney, Australia

    13 h-index

    34 publications

    5.4K citations

  8. Erasmus MC

    Rotterdam, The Netherlands

    13 h-index

    44 publications

    6.4K citations

1–8 of 645

Venues

  1. Circulation Cardiovascular Genetics

    12 publications · 1.5K citations

    12

    h-index

  2. Circulation Research

    12 publications · 1.7K citations

    12

    h-index

  3. Journal of Molecular and Cellular Cardiology

    11 publications · 707 citations

    10

    h-index

  4. Frontiers in Physiology

    8 publications · 174 citations

    8

    h-index

  5. PLoS ONE

    8 publications · 470 citations

    8

    h-index

1–5