Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"bone morphogenetic protein receptor type 2"”.
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Studying the Effect of TBX4 Loss-of-Function on Postnatal Lung Development and How it Predisposes to Pulmonary Hypertension
… individuals. Deleterious variants within the bone morphogenetic protein receptor type 2 (BMPR2) gene are found in approximately 70-80% of the cases. However, at least twelve additional genes are known to have a definitive gene-disease relationship with PAH, including T-box 4 (TBX4). Genetic …
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Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.
… the landmark discovery of the causative role of bone morphogenetic protein receptor type 2 (BMPR2) mutations shed new light on the pathogenesis of PAH. Since then, several genes have been discovered, which now account for around 25% of cases with the clinical diagnosis of idiopathic PAH (IPAH). …
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Developing an induced pluripotent stem cell model of pulmonary arterial hypertension to understand the contribution of BMPR2 mutations to disease-associated phenotypes in smooth muscle cells
Mutations in the gene encoding the bone morphogenetic protein type 2 receptor (BMPR2) are the most common genetic cause of heritable pulmonary arterial hypertension (PAH). However, given the reduced penetrance of BMPR2 mutations in affected families, a major outstanding question is the identity of …