Publications by authors named "Gary J Polwarth"
Article Synopsis
- - The study analyzed genotype-phenotype associations in patients with T-BOX transcription factor 4-associated pulmonary arterial hypertension (PAH) by assessing variants and their effects on lung disease through a multicenter cohort of 137 patients.
- - Using a novel luciferase reporter assay, researchers examined 42 missense variants, finding that gain-of-function mutations were linked to older age at diagnosis and variants in specific domains led to earlier disease presentation and higher rates of interstitial lung disease.
- - The results indicated that T-BOX variants not only cause a loss of function but also show gain-of-function effects, impacting disease severity and patient outcomes, with T-BOX carriers exhibiting worse lung function and earlier diagnoses compared to those with other