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

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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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Angiogenesis
Calpain
CAPNS1
Pulmonary arterial hypertension
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008208

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