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The article discusses how RNA sequencing (RNA-seq) can help detect abnormal splicing events and gene expression in primary ciliary dyskinesia (PCD). It describes a study conducted on 36 Japanese patients with suspected PCD, where genomic DNA analysis and targeted resequencing were initially performed to identify causative variants. It also highlights the importance of RNA-seq in complementing DNA sequencing for the identification and interpretation of variants of uncertain significance in PCD.

The article focuses on vascular remodeling in pulmonary arterial hypertension (PAH) associated with congenital heart disease (CHD). It explores the role of pericytes in the development of flow-induced PAH and investigates the effects of increased pulmonary blood flow on pericyte behavior and vascular remodeling using a murine model. It further suggests that pericytes contribute to PAH through activation of the Cxcl12 pathway.