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10.1371/journal.pone.0057840

Keyword

Bone Morphogenetic Protein Receptors

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

Keyword matches:

... :10.1371/journal.pone.0080319 Editor: Philip Michael Bauer, University of Pittsburgh School of Medicine ...

... : 10.1371/journal.pone.0080319.g001 PLOS ONE | www.plosone.org 4 November 2013 | Volume 8 | Issue 11 ...

... ). doi: 10.1371/journal.pone.0080319.g003 the endoplasmic reticulum (ER) and Golgi apparatus. N-linked ...

... additional chemical chaperone, TUDCA doi: 10.1371/journal.pone.0080319.g002 cultured lymphocytes, the 130 kDa ...

... controls from three independent experiments. doi: 10.1371/journal.pone.0080319.g004 BMP signaling defects ...

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Creator:

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

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