Department of Biotechnology
inStem (Institute for Stem Cell Science and Regenerative Medicine)

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

Publication Type

Journal Article

Date of Publication

October 1, 2022

Journal

Journal of medical genetics

Volume/Issue

59/10

ISSN

1468-6244

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.

Alternate Journal

J Med Genet

PubMed ID

34916228

Authors

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

Keywords

Cardiomyopathy, Hypertrophic
Exome
Heterozygote
Ribosomal Protein S6 Kinases
Ribosomal Protein S6 Kinases, 70-kDa
Humans
Mutation
Cardiomyopathies