Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Christina A EichstaedtZoe SaßmannshausenMemoona ShaukatDing CaoPanagiota XanthouliHenning GallNatascha SommerHossein-Ardeschir GhofraniHans-Jürgen SeyfarthMarianne LercheMichael HalankJanina KleymannNicola BenjaminSatenik HarutyunovaBenjamin EgenlaufKatrin MilgerStephan RosenkranzRalf EwertHans KloseMarius M HoeperKaren M OlssonMareike LankeitTobias J LangeKatrin HinderhoferEkkehard GrünigPublished in: Respiratory research (2022)
Genetic defects were identified in 23% of the patients in a total of 11 PAH genes. This illustrates the benefit of the specific gene panel containing all known PAH genes.
Keyphrases
- genome wide
- pulmonary arterial hypertension
- copy number
- genome wide identification
- end stage renal disease
- pulmonary artery
- dna methylation
- pulmonary hypertension
- genome wide analysis
- ejection fraction
- newly diagnosed
- chronic kidney disease
- transcription factor
- prognostic factors
- gene expression
- bioinformatics analysis
- coronary artery