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Article

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.

Circulation - 15 Sept 2020

Hanses Ulrich, Kleinsorge Mandy, Roos Lennart, Yigit Gökhan, Li Yun, Barbarics Boris, El-Battrawy Ibrahim, Lan Huan, Tiburcy Malte, Hindmarsh Robin, Lenz Christof, Salinas Gabriela, Diecke Sebastian, Müller Christian, Adham Ibrahim, Altmüller Janine, Nürnberg Peter, Paul Thomas, Zimmermann Wolfram-Hubertus, Hasenfuss Gerd, Wollnik Bernd, Cyganek Lukas

Abstract excerpt

BACKGROUND: Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay, intellectual disability as well as cardiac hypertrophy. The underlying mechanism is a gain-of-function of the RAS-mitogen-activated protein kinase signaling pathway. However, our understanding of the...

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Cardiomyopathies
CRISPR-Cas Systems
Genetic Therapy
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Cardiovascular

Myocytes, Cardiac

Noonan Syndrome

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PMID: 32623905
DOI: 10.1161/CIRCULATIONAHA.119.044794

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