Associated Papers
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.
Gregson CL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
[Genetics and genomics of pulmonary arterial hypertension].
Soubrier F et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2014
Genetics and genomics of pulmonary arterial hypertension.
Soubrier F et al.
Journal of the American College of Cardiology, 2013
Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension.
Drake KM et al.
American Journal of Respiratory Cell and Molecular Biology, 2013
Altered expression and signal transduction of endothelin-1 receptors in heritable and idiopathic pulmonary arterial hypertension.
Yu J et al.
Journal of Cellular Physiology, 2013
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8.
Drake KM et al.
American Journal of Respiratory and Critical Care Medicine, 2011