BMPR2


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AcronymDefinition
BMPR2Bone Morphogenetic Protein Receptor-II
References in periodicals archive ?
Mutations in BMPR2 are inherited in an autosomaldominant fashion, but incomplete penetrance and gender bias favoring females suggest environmental and/or other endogenous factors have important disease-modifying roles.
PAH is known to run in families and has been traced to a mutation in the BMPR2 gene, but only 1 in 4 people with that mutation develop the disease.
An example of this is BMPR2 mutation in pulmonary hypertension, which is currently used in practice, is embedded among biomarkers with only potential use.
Kadinlarda olan yatkmlik BMPR2 mutasyonun hormonlar gibi diger cevresel faktorlerden etkilendigini ducundurmektedir (2).
Heterozigot BMPR2 mutasyonu fenfluramine bagli ve konjenital kalp hastaligina gelisen PAH olgularmin ufak bir bolumunde saptanmistir (7,8).
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension: the international PPH consortium.
Mutations of theTGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
IPAH hastalarinda, kalitsal PAH hastalarina gore cok daha az oranda saptanan BMPR2 (kemik morfogenetik protein reseptoru tip 2) mutasyonu tasiyicisi PAH hastalarinin, mutasyonu olmayan hastalara gore, PVT yanitlarinin anlamli sekilde daha fazla negatif bulundugu saptanmistir (%1.