Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant pathogenicity by whole-blood RNA and protein expres...

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Autori principali:	Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2023-01-01
Serie:	Genetics in Medicine Open
Soggetti:	Angiogenesis Calpain CAPNS1 Pulmonary arterial hypertension
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2949774423008208
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