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Article

Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy.

Journal of medical genetics - 1 Oct 2022

Jain Pratul Kumar, Jayappa Shashank, Sairam Thiagarajan, Mittal Anupam, Paul Sayan, Rao Vinay J, Chittora Harshil, Kashyap Deepak K, Palakodeti Dasaradhi, Thangaraj Kumarasamy, Shenthar Jayaprakash, Koranchery Rakesh, Rajendran Ranjith, Alireza Haghighi, Mohanan Kurukkanparampil Sreedharan, Rathinavel Andiappan, Dhandapany Perundurai S

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM. However, relatively little is known about the genetic impact of signalling proteins on HCM. METHODS AND RESULTS: Here, using exome and targeted sequencing methods, we analysed...

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Identifiers

PMID: 34916228
DOI: 10.1136/jmedgenet-2021-107866

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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