Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

Noonan syndrome (NS), the most common among RASopathies, is caused by germline variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including the recurrent Ser257Leu substitution in RAF1, are associated with severe hypertrophic cardiomyopathy (HCM). Here, we investigated...

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Detalles Bibliográficos
Autores principales: Nakhaei-Rad, Saeideh, Haghighi, Fereshteh, Bazgir, Farhad, Dahlmann, Julia, Busley, Alexandra Viktoria, Buchholzer, Marcel, Kleemann, Karolin, Schänzer, Anne, Borchardt, Andrea, Hahn, Andreas, Kötter, Sebastian, Schanze, Denny, Anand, Ruchika, Funk, Florian, Kronenbitter, Annette Vera, Scheller, Jürgen, Piekorz, Roland P., Reichert, Andreas S., Volleth, Marianne, Wolf, Matthew J., Cirstea, Ion Cristian, Gelb, Bruce D., Tartaglia, Marco, Schmitt, Joachim P., Krüger, Martina, Kutschka, Ingo, Cyganek, Lukas, Zenker, Martin, Kensah, George, Ahmadian, Mohammad R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10284840/
https://www.ncbi.nlm.nih.gov/pubmed/37344639
http://dx.doi.org/10.1038/s42003-023-05013-8

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