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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Nature Communications

Apr 14, 2018

Stefan GräfNicholas W Morrell

Abstract

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify th...read more

Mentioned in this Paper

Recombinant Transforming Growth Factor
Biochemical Pathway
Pulmonary Arterial Hypertension
Transforming Growth Factor beta
Bone morphogenetic protein receptor type II
HEK293 Cells
Genes
Pathogenic Organism
GDF2
AQP1 protein, human
46
5
1
111
1
Paper Details
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Nature Communications

Apr 14, 2018

Stefan GräfNicholas W Morrell

PMID: 29650961

DOI: 10.1038/s41467-018-03672-4

Abstract

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify th...read more

Mentioned in this Paper

Recombinant Transforming Growth Factor
Biochemical Pathway
Pulmonary Arterial Hypertension
Transforming Growth Factor beta
Bone morphogenetic protein receptor type II
HEK293 Cells
Genes
Pathogenic Organism
GDF2
AQP1 protein, human
46
5
1
111
1

Similar Papers Found In These Feeds

Related Papers

Paper Details
References
  • References
  • Citations15
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations15
12
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