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 18 of 18 for “"BMPR2"”.
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BMPR2 and mTOR Signaling Pathways in Inflammatory Lung Diseases
… the bone morphogenetic protein type II receptor (BMPR2) and the mammalian target of rapamycin (mTOR) signaling pathways in the pathogenesis of PAH and asthma, respectively. Previous studies have indicated mutations in BMPR2 as one of the contributing factors in the pathogenesis of the heritable …
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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
… 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 additional factors or …
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Investigating the impact of endothelial BMPR2 loss on the proliferative response to bone morphogenetic protein 9 in pulmonary arterial hypertension
… is strongly linked to heterozygous mutations in BMPR2, the gene encoding the bone morphogenetic protein (BMP) type II receptor (BMPR-II). The endothelial-selective BMPR-II ligand, BMP9, has been shown to reverse disease in animal models of PAH and suppress the proliferation of healthy endothelial …
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Exploring the Impact of Endothelial Bone Morphogenetic Protein Receptor 2 Loss on Phosphoinositide and Cytoskeletal Assembly Dynamics and the Pathobiology of Pulmonary Arterial Hypertension
… and heterozygous germline mutations in BMPR2, which encodes the bone morphogenetic protein (BMP) type II receptor. Previous research has shown that silencing of endothelial BMPR2 transcripts impairs cell surface receptor trafficking through the TGN. However, the role of BMPR-II in actin …
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Phenotype – genotype associations in a large cohort of patients with pulmonary arterial hypertension
… of rare and predicted deleterious variants in BMPR2 was not of prognostic significance. Variants in genes previously associated with disease pathogenesis were identified in 204 patients (19 %). Patients with variants in BMPR2 were younger at diagnosis and had more severe pulmonary haemodynamic …
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Therapeutic Targeting of BMP and TGF-β Signalling Pathways for the Resolution of Pulmonary Arterial Hypertension
… the bone morphogenetic protein receptor type II (BMPR2) have been linked with the majority (~75%) of the familial form of the disease (HPAH). Mutations in the BMPR2 gene impinge upon the BMP signalling which perturbs the balance between BMP and TGF-β pathways leading to the clinical course of the …
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Identificación y validación funcional de nuevos genes y mutaciones asociadas a la etiología de la insuficiencia ovárica primaria (IOP) : implicación de los genes BMP15, BMPR2, MSH4, ATG7, ATG9A y NOTCH2
… confirmar que las mutaciones en los genes: BMPR2 (c.2960C>T-p.Ser987Phe), MSH4 (c.2355+1G>A-p.Ile743_Arg785del), ATG7 (c.1209T>A-p.Phe403Leu), ATG9A (c.2272C>T-p.Arg758Cys) y NOTCH2 (c.5411C>T-p.Ser1804L, c.6947>T-p.Ala2316Val y c.7075C>G-p.Pro2359A) modifican la función cada una de las …
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Deep forward and reverse phenotyping for genetic discovery in pulmonary arterial hypertension.
… 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). Despite the ongoing efforts, for the majority …
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Modulating Bone morphogenetic protein (BMP) and Transforming growth factor-beta (TGF-β) signalling with green tea catechins in mammalian cells
… being a loss of characteristic mutation in the BMPR2 gene, a member of the TGFβ Superfamily. In this study, it was hypothesised that these green tea catechin compounds might inhibit TGFβ signalling while promoting BMP signalling. This study demonstrates that these green tea catechin compounds …
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Role of plasma membrane ATPase4 in the pathophysiology of pulmonary arterial hypertension
… PAH, the expression of PAH-associated receptors (BMPR2, ALK1, TGFβR1, Endoglin) was evaluated in lung RNA from PMCA4 wild-type and knockout mice by qPCR, showing no significant differences. In vitro, stimulation of human PAECs and HUVECs with TNF-α and cycloheximide (CHX) significantly reduced …
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Studying the Effect of TBX4 Loss-of-Function on Postnatal Lung Development and How it Predisposes to Pulmonary Hypertension
… 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 predisposition may also contribute to group 3 …
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Elucidating the roles of endothelial PTBP1 and PKM2 in Pulmonary Arterial Hypertension: implications for therapy
… carriers of causal missense or truncating BMPR2 mutations. In doing so, my work sheds light on the causal and therapeutic roles of PTBP1 and PKM2 in several patient contexts. In this thesis, I have shown that treatment with the anti-tumorigenic compound apigenin, inhibits PTBP1 and PKM2 …
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Investigation of the therapeutic potential of recombinant BMP10 in an adult mouse model of HHT1 and the crosstalk between BMP and VEGF signalling
… Eng-iKOe lungs. Additionally, reduced Alk1 and Bmpr2 mRNA expression was fully rescued after pBMP10 treatment. In the in vitro analysis of human endothelial cells, BMP and VEGF ligands modulated common target genes such as FOS, ESM1, PlGF, and ET1, they will be further investigated in the mouse …
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The Role of BMP9-Induced SEMA3G in Pulmonary Vascular Stability
… is being investigated in PAH, as it increases *BMPR2* expression, inhibits endothelial cell permeability, and reverses vessel remodeling in PAH preclinical models. The exact mechanism by which BMP9 regulates vessel stability is unknown, but BMP9 is known to inhibit pro-angiogenic VEGF …
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Bone morphogenetic proteins 9 & 10 in pulmonary arterial hypertension
… the pulmonary vascular endothelium. Mutations in BMPR2, which encodes the type-II bone morphogenic protein (BMP) receptor BMPR-II, explain the majority of heritable PAH. BMPR-II forms a signalling complex, with ALK1 and endoglin, specific to endothelial cells which maintains vascular quiescence. …
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Signal transduction via multiple BMP receptor complexes
… of general interest. Moreover, mutations in the BMPR2 gene were identified to be responsible for PPH, a autosomal dominant lung disease. In this thesis, BRII phosphorylation and signalling mediated by different receptor oligomers were investigated and multiple BRII associated proteins were …
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Hypoxia-mediated human pulmonary arterial fibroblast proliferation is dependent on p38 mitogen-activated protein kinase activity.
… exposure. We have also demonstrated that that BMPR2-associated Smad 1, 5 and 8 activation is increased in hypoxic human SAFB, suggestive of the activation of an anti-proliferative pathway in these cells that is not associated with p38 MAPK activity. To our knowledge this is the first …
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Characterisation of the molecular mechanisms of dopaminergic axonal growth and their impairment in Parkinson's disease
… which had significant coexpression pattern with BMPR2 and multiple dopaminergic neuronal markers. The gene ontology analysis on the proteins upregulated by GDF5 revealed their involvement in oxidative phosphorylation and mitochondrial respiratory processes. We next performed a Seahorse …