Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1 -Associated Noonan Syndrome | Zendy

Fabrice Jaffré | Zendy; Clint L. Miller | Zendy; Anne Schänzer | Zendy; Todd Evans | Zendy; Amy E. Roberts | Zendy; Andreas Hahn | Zendy; Maria I. Kontaridis | Zendy

Open Access

Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1 -Associated Noonan Syndrome

Author(s) -

Fabrice Jaffré,

Clint L. Miller,

Anne Schänzer,

Todd Evans,

Amy E. Roberts,

Andreas Hahn,

Maria I. Kontaridis

Publication year - 2019

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.118.037227

Subject(s) - induced pluripotent stem cell , noonan syndrome , microbiology and biotechnology , protein kinase a , kinase , biology , medicine , cancer research , genetics , gene , embryonic stem cell

More than 90% of individuals with Noonan syndrome (NS) with mutations clustered in the CR2 domain of RAF1 present with severe and often lethal hypertrophic cardiomyopathy (HCM). The signaling pathways by which NS RAF1 mutations promote HCM remain elusive, and so far, there is no known treatment for NS-associated HCM.

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