3 years ago

Fragile Histidine Triad (FHIT), a Novel Modifier Gene in Pulmonary Arterial Hypertension.

Xuefei Tian, Joshua C Saldivar, Fan Zhang, James E Loyd, Svenja Dannewitz Prosseda, Michele Donato, Edda Spiekerkoetter, Kazuya Kuramoto, Eric D Austin, Lingli Wang, Mario Boehm, Ross J Metzger, Adam Andruska, David Solow-Cordero, Kay Huebner, Kazuya Miyagawa, Deepti Sudheendra, Lisa Wheeler, Purvesh Khatri
Pulmonary arterial hypertension (PAH) is characterized by progressive narrowing of pulmonary arteries resulting in right heart failure and death. Bone Morphogenetic Protein Receptor type-2 (BMPR2) mutations account for most familial PAH (FPAH) forms while reduced BMPR2 is present in many idiopathic PAH (IPAH) forms, suggesting dysfunctional BMPR2 signaling to be a key feature of PAH. Modulating BMPR2 signaling is therapeutically promising, yet how BMPR2 is downregulated in PAH is unclear.

Publisher URL: http://doi.org/10.1164/rccm.201712-2553OC

DOI: 10.1164/rccm.201712-2553OC

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