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Nouvelle recherche Mot-clé Mutation

Increased Susceptibility to Hypoxic Pulmonary Hypertension in Bmpr2 Mutant Mice is Associated with Endothelial Dysfunction in the Pulmonary Vasculature

Créateur:

Brink, M., Frank, D.B., Reese, J., Lowery Jonathan W., Anderson, L., and de Caestecker, M.

La description:

Patients with familial pulmonary arterial hypertension inherit heterozygous mutations of the type 2 bone morphogenetic protein (BMP) receptor BMPR2. To explore the cellular mechanisms of this disease, we evaluated the pulmonary...

Type:

Article
Abnormal Trafficking of Endogenously Expressed BMPR2 Mutant Allelic Products in Patients with Heritable Pulmonary Arterial Hypertension

Créateur:

Frump, A.L., Hamid, R., de Caestecker, M., Austin, E.D., and Lowery, Jonathan W.

La description:

More than 200 heterozygous mutations in the type 2 BMP receptor gene, BMPR2, have been identified in patients with Heritable Pulmonary Arterial Hypertension (HPAH). More severe clinical outcomes occur in patients with BMPR2...

Type:

Article