Loss-of-function mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene are common in heritable or idiopathic pulmonary arterial hypertension (PAH), and can result in functional impairment of both endothelial and vascular smooth muscle cells. Here, we report 3 PAH patient-specific induced pluripotent stem cells (iPSC) lines from 3 unrelated patients harbouring different mutations in the BMPR2 gene: a heterozygous missense mutation in exon 12, a heterozygous frame shift deletion in exon 3, and a heterozygous missense mutation in exon 11. These cell lines will serve as a valuable resource to model PAH in vitro
International audienceMutations in the gene encoding bone morphogenetic protein (BMP) receptor type ...
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variatio...
Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited muta...
Pulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary ...
© 2017 Dr Ling QianPulmonary arterial hypertension is a debilitating disease that results in obstruc...
Reduced bone morphogenetic protein receptor 2 (BMPR2) signaling is central to the pathobiology of pu...
Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean p...
Pulmonary arterial hypertension (PAH) is a devastating disease characterized by abnormal remodeling ...
Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean p...
Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the elevation of the ...
Background - Pulmonary arterial hypertension (PAH) is a rare but fatal lung disease of diverse origi...
Heritable pulmonary arterial hypertension belongs to a group of pulmonary vascular diseases for whic...
Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases...
Abstract Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic p...
Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension fo...
International audienceMutations in the gene encoding bone morphogenetic protein (BMP) receptor type ...
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variatio...
Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited muta...
Pulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary ...
© 2017 Dr Ling QianPulmonary arterial hypertension is a debilitating disease that results in obstruc...
Reduced bone morphogenetic protein receptor 2 (BMPR2) signaling is central to the pathobiology of pu...
Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean p...
Pulmonary arterial hypertension (PAH) is a devastating disease characterized by abnormal remodeling ...
Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean p...
Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the elevation of the ...
Background - Pulmonary arterial hypertension (PAH) is a rare but fatal lung disease of diverse origi...
Heritable pulmonary arterial hypertension belongs to a group of pulmonary vascular diseases for whic...
Pulmonary arterial hypertension (PAH; MIM 600799) is frequently associated with concomitant diseases...
Abstract Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic p...
Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension fo...
International audienceMutations in the gene encoding bone morphogenetic protein (BMP) receptor type ...
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variatio...
Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited muta...