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Amyloid
The Journal of Protein Folding Disorders
Volume 26, 2019 - Issue 4
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Articles

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy

Luis R. LopesSt. Bartholomew’s Centre for Inherited Cardiovascular Disease, St Bartholomew’s Hospital, London, UK; ;UCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; ;European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART,  http://guardheart.ern-net.eu/); Correspondence[email protected]
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Marta FutemaUCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; View further author information
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Mohammed M. AkhtarSt. Bartholomew’s Centre for Inherited Cardiovascular Disease, St Bartholomew’s Hospital, London, UK; ;UCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; ;European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART,  http://guardheart.ern-net.eu/); View further author information
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Massimiliano LorenziniSt. Bartholomew’s Centre for Inherited Cardiovascular Disease, St Bartholomew’s Hospital, London, UK; ;UCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; ;European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART,  http://guardheart.ern-net.eu/); View further author information
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Alan PittmanGenetic Research Centre, St George’s, University of London, London, UKView further author information
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Petros SyrrisUCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; View further author information
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Perry M. ElliottSt. Bartholomew’s Centre for Inherited Cardiovascular Disease, St Bartholomew’s Hospital, London, UK; ;UCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK; ;European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART,  http://guardheart.ern-net.eu/); View further author information
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Pages 243-247 | Received 22 May 2019, Accepted 06 Sep 2019, Published online: 25 Sep 2019

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Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira & Arndt Rolfs. (2021) Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. Annals of Medicine 53:1, pages 1787-1796.
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Articles from other publishers (8)

Juan David López-Ponce de Leon, Mayra Estacio, Natalia Giraldo, Manuela Escalante, Yorlany Rodas, Jessica Largo, Juliana Lores, María Camila Victoria, Diana Argote, Noel Florez, Diana Carrillo, Pastor Olaya, Mauricio Mejia & Juan Esteban Gomez. (2023) Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study. Journal of Clinical Medicine 12:17, pages 5682.
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Olga S. Chumakova, Svetlana N. Nasonova, Yulia V. Frolova, Elena A. Stepanova, Elena A. Mershina, Valentin E. Sinitsyn, Dmitry A. Zateyshchikov & Igor V. Zhirov. (2023) A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report. Terapevticheskii arkhiv 95:4, pages 335-340.
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Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone & Concetta Federico. (2022) Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy. Biomedicines 10:10, pages 2394.
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Torsten B. Rasmussen, Bertil T. Ladefoged, Anne M. Dybro, Tor S. Clemmensen, Rikke H. Sørensen, Astrid J. Terkelsen, Henning Mølgaard, Henrik Vase & Steen H. Poulsen. (2022) Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy. Cardiogenetics 12:1, pages 1-11.
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Maria Papathanasiou, Alexander Carpinteiro, David Kersting, Aiste‐Monika Jakstaite, Tim Hagenacker, Thomas‐Wilfried Schlosser, Christoph Rischpler, Tienush Rassaf & Peter Luedike. (2020) Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review. Molecular Genetics & Genomic Medicine 9:12.
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Luis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Cañamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob B Smith, Enzo R Porrello, Mohammed M Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A Elliott, Lorenzo Monserrat & Perry M Elliott. (2021) Alpha-protein kinase 3 ( ALPK3 ) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy . European Heart Journal 42:32, pages 3063-3073.
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Luis R. Lopes, David Murphy, Enrico Bugiardini, Reem Salem, Joanna Jager, Marta Futema, Mohammed Majid Akhtar, Konstantinos Savvatis, Cathy WoodwardAlan M. PittmanMichael G. HannaPetros Syrris, Robert D.S. Pitceathly & Perry M. Elliott. (2021) Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants. Circulation: Genomic and Precision Medicine 14:3.
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Luis R. Lopes, Pedro Barbosa, Mario TorradoEllie Quinn, Ana MerinoJuan Pablo Ochoa, Joanna JagerMarta FutemaMaria Carmo-Fonseca, Lorenzo Monserrat, Petros Syrris & Perry M. Elliott. (2020) Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy . Circulation: Genomic and Precision Medicine 13:3.
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