Linked Life Data

19051722

Source:http://linkedlifedata.com/resource/pubmed/id/19051722

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2008-12-4
pubmed:abstractText
Mutations of the bone morphogenetic protein receptor II gene (BMPR2) have been reported in patients with pulmonary arterial hypertension (PAH). In hereditary hemorrhagic telangiectasia (HHT) patients with PAH, missense mutations of the activin receptor-like kinase 1 gene (ALK1) located in the serine-threonine kinase domain. Recently, the mutations of ALK1 in the serine-threonine kinase domain were observed in PAH patients. ALK1 mutations play a critical role in PAH without HHT as well as in PAH with HHT. Because only 10-20% carriers with BMPR2 mutations develop PAH, the existence of environmental factors or modifier genes as 5-HTT(serotonin transporter) and ACE (angiotensin converting enzyme) is highly probable.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0047-1852
pubmed:author
pubmed:issnType
Print
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2071-5
pubmed:dateRevised
2011-7-27
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
[Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension].
pubmed:affiliation
Department of Pediatrics, Tokyo Rinkai Hospital.
pubmed:publicationType
Journal Article, English Abstract, Review