Associated Papers
Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Chida-Nagai A et al.
Journal of the American Heart Association, 2024
Unique roles of rare variants in the genetics of complex diseases in humans.
Momozawa Y et al.
Journal of Human Genetics, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1
Generation of an induced pluripotent stem cell line (PUMCHi006-A) derived from a patient with pulmonary arterial hypertension carrying heterozygous c.1339 G > A mutation in PTGIS gene.
Zhu YJ et al.
Stem Cell Research, 2020
Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.
Wang XJ et al.
Jama Cardiology, 2020
Analysis of genetic polymorphism and biochemical characterization of a functionally decreased variant in prostacyclin synthase gene (CYP8A1) in humans.
Cho SA et al.
Archives of Biochemistry and Biophysics, 2015
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