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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

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dc.contributor.authorLopes, Luis R
dc.contributor.authorGarcia-Hernández, Soledad
dc.contributor.authorLorenzini, Massimiliano
dc.contributor.authorFutema, Marta
dc.contributor.authorChumakova, Olga
dc.contributor.authorZateyshchikov, Dmitry
dc.contributor.authorIsidoro-Garcia, Maria
dc.contributor.authorVillacorta, Eduardo
dc.contributor.authorEscobar-Lopez, Luis
dc.contributor.authorGarcia-Pavia, Pablo
dc.contributor.authorBilbao, Raquel
dc.contributor.authorDobarro, David
dc.contributor.authorSandin-Fuentes, Maria
dc.contributor.authorCatalli, Claudio
dc.contributor.authorGener Querol, Blanca
dc.contributor.authorMezcua, Ainhoa
dc.contributor.authorGarcia Pinilla, Jose
dc.contributor.authorBloch Rasmussen, Torsten
dc.contributor.authorFerreira-Aguar, Ana
dc.contributor.authorRevilla-Martí, Pablo
dc.contributor.authorBasurte Elorz, Maria Teresa
dc.contributor.authorBautista Paves, Alicia
dc.contributor.authorRamon Gimeno, Juan
dc.contributor.authorFigueroa, Ana Virginia
dc.contributor.authorFranco-Gutierrez, Raul
dc.contributor.authorFuentes-Cañamero, Maria Eugenia
dc.contributor.authorMartinez Moreno, Marina
dc.contributor.authorOrtiz-Genga, Martin
dc.contributor.authorPiqueras-Flores, Jesus
dc.contributor.authorAnalia Ramos, Karina
dc.contributor.authorRudzitis, Ainars
dc.contributor.authorRuiz-Guerrero, Luis
dc.contributor.authorStein, Ricardo
dc.contributor.authorTriguero-Bocharán, Mayte
dc.contributor.authorde la Higuera, Luis
dc.contributor.authorOchoa, Juan Pablo
dc.contributor.authorAbu-Bonsrah, Dad
dc.contributor.authorKwok, Cecilia Y T
dc.contributor.authorSmith, Jacob B
dc.contributor.authorPorrello, Enzo R
dc.contributor.authorAkhtar, Mohammed M
dc.contributor.authorJager, Joanna
dc.contributor.authorAshworth, Michael
dc.contributor.authorSyrris, Petros
dc.contributor.authorElliott, David A
dc.contributor.authorMonserrat, Lorenzo
dc.contributor.authorElliott, Perry M
dc.date.accessioned2024-02-19T15:24:41Z
dc.date.available2024-02-19T15:24:41Z
dc.date.issued2021
dc.description.abstractThe aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P  Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype.
dc.format.number32es_ES
dc.format.page3063-3073es_ES
dc.format.volume42es_ES
dc.identifier.doi10.1093/eurheartj/ehab424
dc.identifier.e-issn1522-9645es_ES
dc.identifier.journalEuropean heart journales_ES
dc.identifier.otherhttp://hdl.handle.net/10668/18201
dc.identifier.pubmedID34263907es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/18230
dc.language.isoeng
dc.rights.accessRightsopen accesses_ES
dc.rights.licenseAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectALPK3
dc.subjectGenetics
dc.subjectHypertrophic cardiomyopathy
dc.subject.meshCardiomyopathy, Hypertrophic
dc.subject.meshHeterozygote
dc.subject.meshHumans
dc.subject.meshMuscle Proteins
dc.subject.meshMutation
dc.subject.meshProtein Kinases
dc.subject.meshSarcomeres
dc.titleAlpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication
relation.isAuthorOfPublication52ada1ee-7241-4738-b46d-90a5ccc14894
relation.isAuthorOfPublication.latestForDiscovery52ada1ee-7241-4738-b46d-90a5ccc14894

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IBIMA-Plataforma BIONAND - Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (Andalucía)
IBSAL - Instituto de Investigación Biómedica de Salamanca (Castilla y León)
IDIS - Instituto de Investigación Sanitaria de Santiago de Compostela (Galicia)
IDIVAL - Instituto de Investigación Marqués de Valdecilla (Cantabria)
IIS BioBizkaia - Asociación Instituto de Investigación Sanitaria BioBizkaia (País Vasco)