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SMAD5 as a novel gene for familial pulmonary arterial hypertension.

Clin Sci (Lond)

January 2025

Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.

Article Synopsis
  • A study on 325 pulmonary arterial hypertension (PAH) patients found mutations in 23% using a specific gene panel targeting 18 known PAH genes.
  • Additional sequencing identified two variants in the SMAD5 gene, which were further characterized through various functional tests, confirming their expression and effects on cell behavior.
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