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Titel:

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.

Dokumenttyp:
Journal Article
Autor(en):
Meier, Anna B; Raj Murthi, Sarala; Rawat, Hilansi; Toepfer, Christopher N; Santamaria, Gianluca; Schmid, Manuel; Mastantuono, Elisa; Schwarzmayr, Thomas; Berutti, Riccardo; Cleuziou, Julie; Ewert, Peter; Görlach, Agnes; Klingel, Karin; Laugwitz, Karl-Ludwig; Seidman, Christine E; Seidman, Jonathan G; Moretti, Alessandra; Wolf, Cordula M
Abstract:
Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of the Ras-MAPK pathway. Although the cardiomyopathy associated with Noonan syndrome (NS-CM) shares certain cardiac features with the hypertrophic cardiomyopathy caused by mutations in sarcomeric proteins (HCM), such as pathological m...     »
Zeitschriftentitel:
iScience
Jahr:
2022
Band / Volume:
25
Heft / Issue:
1
Volltext / DOI:
doi:10.1016/j.isci.2021.103596
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34988410
TUM Einrichtung:
Klinik für Chirurgie angeborener Herzfehler und Kinderherzchirurgie (Prof. Hörer); Klinik für Kinderkardiologie und angeborene Herzfehler (Prof. Ewert); Klinik und Poliklinik für Innere Medizin I, Kardiologie; Professur für Regenerative Medizin bei Kardiovaskulären Erkrankungen (Prof. Moretti)
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