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1 Targeted gene delivery of BMPR2 attenuates pulmonary ...
https://erj.ersjournals.com/content/39/2/329
In both hypertensive models, those receiving BMPR2 had less right ventricular hypertrophy, less pulmonary vascular resistance, improved cardiac function and ...
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2 Pulmonary Hypertension Due to BMPR2 Mutation
https://www.atsjournals.org/doi/full/10.1513/pats.200605-118SF
by NW Morrell · 2006 · Cited by 216 —
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3 Bmpr2 Mutant Rats Develop Pulmonary and Cardiac ...
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.118.033744
Bone morphogenetic protein receptor 2 (Bmpr2) mutant rats developed spontaneous pulmonary hypertension (SPH) in an age-dependent manner ...
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4 BMPR2 gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/bmpr2/
The BMPR2 gene provides instructions for making a protein called bone morphogenetic protein receptor type 2. The BMPR2 gene belongs to a ...
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5 Three novel BMPR2 mutations associated with advanced ...
https://www.nature.com/articles/hgv201710
Loss of function mutations in the type II BMP receptor BMPR2 are the leading cause of pulmonary arterial hypertension (PAH), a rare disease ...
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6 CRISPR-mediated Bmpr2 point mutation exacerbates late ...
https://respiratory-research.biomedcentral.com/articles/10.1186/s12931-022-02005-w
Patients with pulmonary arterial hypertension (PAH) carrying bone morphogenetic protein receptor type 2 (Bmpr2) mutations present earlier ...
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7 Approaches to treat pulmonary arterial hypertension by ...
https://academic.oup.com/cardiovascres/article/117/11/2309/6064147
Autosomal-dominant mutations in the gene encoding BMPR2 are causal of heritable PAH with mutations observed in ∼75% of familial cases, and 11–40% of idiopathic ...
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8 Hereditary Pulmonary Arterial Hypertension and BMPR2
https://arup.utah.edu/database/BMPR2/BMPR2_welcome.php
However, due to reduced penetrance, only 20% of individuals with BMPR2 gene mutations develop symptoms of pulmonary arterial hypertension.
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9 FK506 activates BMPR2, rescues endothelial dysfunction ... - JCI
https://www.jci.org/articles/view/65592
Dysfunctional bone morphogenetic protein receptor-2 (BMPR2) signaling is implicated in the pathogenesis of pulmonary arterial hypertension (PAH).
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10 Consequences of BMPR2 Deficiency in the Pulmonary ... - MDPI
https://www.mdpi.com/1422-0067/19/9/2499
Since its association with familial pulmonary arterial hypertension (PAH) in 2000, Bone Morphogenetic Protein Receptor II (BMPR2) and its related signaling ...
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11 BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial ...
https://clinicaltrials.gov/ct2/show/NCT04086537
BMPR2 expression levels will be measured in blood samples. ... Pulmonary arterial hypertension (PAH) is a rare disease characterized by an ...
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12 P139 Survival of Idiopathic Pulmonary Arterial Hypertension ...
https://thorax.bmj.com/content/67/Suppl_2/A122.1
Pulmonary arterial hypertension (PAH) can be heritable, with mutations found in the bone morphogenetic protein type 2 receptor (BMPR2) gene found in > 70% ...
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13 FK506 activates BMPR2, rescues endothelial dysfunction, and ...
https://www.thoracic.org/members/assemblies/assemblies/pc/journal-club/fk506-activates-bmpr2-rescues-endothelial-dysfunction-and-reverses-pulmonary-hypertension.php
Background: Despite advances in the treatment of pulmonary arterial hypertension (PAH), new therapies are needed; targeting cellular mechanisms to reverse ...
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14 A DOUBLE HIT: PULMONARY ARTERIAL HYPERTENSION ...
https://journal.chestnet.org/article/S0012-3692(21)03386-9/fulltext
A DOUBLE HIT: PULMONARY ARTERIAL HYPERTENSION, BMPR2 MUTATION, AND EXPOSURE TO PRESCRIPTION AMPHETAMINES · TOPIC: Pulmonary Vascular Disease · TYPE: Fellow Case ...
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15 BMPR2 (Pulmonary arterial hypertension) - Gene
https://panelapp.genomicsengland.co.uk/panels/193/gene/BMPR2/
Pulmonary arterial hypertension. Gene: BMPR2. Green List (high evidence). BMPR2 (bone morphogenetic protein receptor type 2) EnsemblGeneIds (GRCh38): ...
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16 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 - OMIM
https://omim.org/entry/178600
Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is ...
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17 Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation ...
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133042
Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone ...
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18 A second hit? Pulmonary arterial hypertension, BMPR2 ...
https://onlinelibrary.wiley.com/doi/abs/10.1002/pul2.12053
Abstract The second hit hypothesis in pulmonary hypertension refers to the development of pulmonary vascular disease in individuals at risk, ...
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19 Case Report: BMPR2-Targeted MinION Sequencing as a Tool ...
https://www.frontiersin.org/articles/10.3389/fcvm.2021.711694/full
Identification of BMPR2 mutations is crucial for the genetic diagnosis ... a major genetic cause of pulmonary arterial hypertension (PAH).
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20 PERK inhibition attenuates vascular remodeling in pulmonary ...
https://www.science.org/doi/10.1126/scisignal.abb3616
Pulmonary arterial hypertension (PAH) is a fatal disease characterized by excessive ... PERK inhibition in PASMCs caused by BMPR2 mutation may potentially ...
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21 A Novel BMPR2 Mutation Associated with Pulmonary Arterial ...
https://link.springer.com/article/10.1007/s00408-010-9242-7
We describe the case of an 83-year-old man with a family history of pulmonary hypertension (PH) who presented with severe pulmonary arterial ...
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22 BMPR2 mutations and endothelial dysfunction in pulmonary ...
https://journals.sagepub.com/doi/10.1177/2045894018765840
Despite the discovery more than 15 years ago that patients with hereditary pulmonary arterial hypertension (HPAH) inherit BMP type 2 receptor (BMPR2) ...
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23 Potential Interventions Against BMPR2-Related Pulmonary ...
https://meridian.allenpress.com/aph/article/11/1/25/432102/Potential-Interventions-Against-BMPR2-Related
For more than 60 years, researchers have sought to understand the molecular basis of idiopathic pulmonary arterial hypertension (PAH).
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24 BMPR2 mutations, Neointimal Transformation and Pulmonary ...
https://www.research.va.gov/about/funded-proj-details-FY2022.cfm?pid=707965
Title: BMPR2 mutations, Neointimal Transformation and Pulmonary Arterial Hypertension. Principal Investigator: Mark R Nicolls. Location: Palo Alto, CA.
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25 Sotatercept for the Treatment of Pulmonary Arterial Hypertension
https://www.nejm.org/doi/full/10.1056/NEJMoa2024277
Abstract Background Pulmonary arterial hypertension is characterized by pulmonary vascular remodeling, cellular proliferation, ...
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26 Reduced BMPR2 expression induces GM-CSF translation and ...
https://rupress.org/jem/article/211/2/263/41594/Reduced-BMPR2-expression-induces-GM-CSF
Idiopathic pulmonary arterial hypertension (PAH [IPAH]) is an insidious and ... When human pulmonary artery (PA) endothelial cells deficient in BMPR2 were ...
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27 Idiopathic pulmonary arterial hypertension associated with a...
https://journals.lww.com/md-journal/fulltext/2019/10180/idiopathic_pulmonary_arterial_hypertension.55.aspx
Loss-of-function mutation of bone morphogenetic protein receptor II (BMPR2) gene and exaggerated activation of transforming growth factor (TGF)-β signaling play ...
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28 BMPR2 gene mutations affect outcomes of PAH patients
https://www.medwirenews.com/pulmonary-hypertension/respiratory/bmpr2-gene-mutations-affect-outcomes-of-pah-patients/7433946
bone morphogenetic protein receptor type II, BMPR2. ... (BMPR2) affect not only the risk of developing pulmonary arterial hypertension (PAH) ...
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29 Cytoskeletal defects in Bmpr2-associated pulmonary arterial ...
https://journals.physiology.org/doi/10.1152/ajplung.00202.2011
The heritable form of pulmonary arterial hypertension (PAH) is typically caused by a mutation in bone morphogenic protein receptor type 2 (BMPR2), ...
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30 Bmpr2 Targeted Allele Detail MGI Mouse (MGI ...
http://www.informatics.jax.org/allele/MGI:5776726
R899*). A loxP site flanked neomycin resistance gene cassette was inserted into intron 12. This mutation is associated with pulmonary arterial hypertension ...
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31 Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 ...
https://www.gimjournal.org/article/S1098-3600(21)03058-6/fulltext
Single nucleotide polymorphism genotypes of BMPR2 mutation heterozygotes, age at diagnosis, and penetrance of familial pulmonary arterial hypertension were ...
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32 Pulmonary Arterial Hypertension - NORD (National ...
https://rarediseases.org/rare-diseases/pulmonary-arterial-hypertension/
People with heritable PAH have either: (1) an autosomal dominant genetic condition associated with mutations in the BMPR2 gene or other recently identified ...
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33 ENDOTHELIAL BMPR2 LOSS PROMOTES ALTERED IL-15 ...
https://www.onlinecjc.ca/article/S0828-282X(21)00616-4/fulltext
Natural killer (NK) cell impairment is a feature of pulmonary arterial hypertension (PAH) and contributes to disease development in mouse models of NK cell ...
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34 BMPR2 Mutation Chart - Vanderbilt University Medical Center |
https://www.vumc.org/pah/publication/bmpr2-mutation-chart
Pulmonary Hypertension Clinical & Research Team · Home · Clinical · Research · PAH Research Team · Resources · Outreach · Contact Us. BMPR2 Mutation Chart.
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35 BMPR2 mutation is associated with pulmonary hypertension
http://www.clinlabnavigator.com/bmpr2-for-hereditary-pulmonary-arterial-hypertension.html
BMPR2 for Hereditary Pulmonary Arterial Hypertension. Pulmonary arterial hypertension (PAH) is characterized by widespread obliteration of the smallest ...
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36 Pulmonary Arterial Hypertension (PAH) via the BMPR2 Gene
https://www.preventiongenetics.com/testInfo?val=Pulmonary-Arterial-Hypertension-(PAH)-via-the-BMPR2-Gene
Pulmonary arterial hypertension (PAH) is a progressive disease in which occlusion of small pulmonary arteries causes increasing resistance of blood flow ...
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37 Clinical Implications of Determining BMPR2 Mutation Status in ...
https://www.jhltonline.org/article/S1053-2498(08)00178-2/abstract
Bone morphogenetic protein receptor type 2 (BMPR2) mutations occur in idiopathic and familial pulmonary arterial hypertension (IPAH, ...
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38 Bone Morphogenic Protein Receptor 2 (BMPR2) Gene ...
https://acrabstracts.org/abstract/bone-morphogenic-protein-receptor-2-bmpr2-gene-mutations-are-associated-to-the-development-of-isolated-pulmonary-arterial-hypertension-pah-in-systemic-sclerosis-ssc-patients/
Bone Morphogenic Protein Receptor 2 (BMPR2) Gene Mutations Are Associated To The Development Of Isolated Pulmonary Arterial Hypertension (PAH) In Systemic ...
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39 Activating BMPR2 Protein Supported as PAH Treatment Strategy
https://pulmonaryhypertensionnews.com/news/activating-bmpr2-protein-supported-as-pah-treatment-strategy/
BMPR2 | Pulmonary Hypertension News | illustration of mice with ... As a result, blood pressure rises, making it harder for the heart to ...
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40 BMPR2 유전자 돌연변이에 의한 특발성 폐동맥고혈압 1예
https://www.ekjm.org/journal/view.php?number=23010
A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation. Sung Min Kim1, Eun Hee Koo1, Sun Mi Park1, Ji Won Park1, ...
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41 PTPN1 deficiency modulates BMPR2 signaling and induces ...
https://www.biorxiv.org/lookup/content/short/2022.11.27.518092v1?rss=1
Abstract. Bone morphogenic protein receptor 2 (BMPR2) expression and signaling are impaired in pulmonary arterial hypertension (PAH).
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42 Pulmonary hypertension due to BMPR2 mutation
https://www.semanticscholar.org/paper/Pulmonary-hypertension-due-to-BMPR2-mutation%3A-a-new-Morrell/4bf6b6c7ba57676194c0d5ba0a55ef62242cd762
Genetic studies in familial pulmonary arterial hypertension (FPAH) have ... Pulmonary hypertension due to BMPR2 mutation: a new paradigm for ...
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43 Utility of Pulmonary Arterial Hypertension Screening in Adults ...
https://www.pulmonologyadvisor.com/home/topics/pulmonary-hypertension/utility-of-pulmonary-arterial-hypertension-screening-in-adults-with-bmpr2-mutation/
Asymptomatic carriers of the encoding bone morphogenetic protein receptor type 2 (BMPR2) mutation have a significant risk of developing ...
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44 Methamphetamine-Induced Pulmonary Arterial Hypertension
https://advances.massgeneral.org/research-and-innovation/case-study.aspx?id=1012
It is possible that our patient is a carrier for a BMPR2 mutation. Clinical studies on the development of PAH in methamphetamine users ...
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45 (PDF) Regulation of The Methylation and Expression Levels of ...
https://www.researchgate.net/publication/352105514_Regulation_of_The_Methylation_and_Expression_Levels_of_the_BMPR2_Gene_by_SIN3a_As_A_Novel_Therapeutic_Mechanism_in_Pulmonary_Arterial_Hypertension
... of The Methylation and Expression Levels of the BMPR2 Gene by SIN3a As A Novel Therapeutic Mechanism in Pulmonary Arterial Hypertension.
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46 Therapeutic resolution of BMPR2-mediated signalling defects ...
https://www.findaphd.com/phds/project/therapeutic-resolution-of-bmpr2-mediated-signalling-defects-in-pulmonary-arterial-hypertension-pah/?p138736
PhD Project - Therapeutic resolution of BMPR2-mediated signalling defects in pulmonary arterial hypertension (PAH) at University of Bradford, ...
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47 The BMP Receptor 2 in Pulmonary Arterial Hypertension - MDPI
https://mdpi-res.com/d_attachment/cells/cells-09-01422/article_deploy/cells-09-01422.pdf?version=1591612624
Aside from mutations in the BMPR2 gene, other genes related to BMPR2 signaling such as ALK1, CAV1, ENG, SMAD4, SMAD8, SMAD9,. BMPR1 and BMP9 are ...
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48 Outcomes of Childhood Pulmonary Arterial Hypertension in ...
https://thoracickey.com/outcomes-of-childhood-pulmonary-arterial-hypertension-in-bmpr2-and-alk1-mutation-carriers/
Mutations in the bone morphogenetic protein receptor type 2 ( BMPR2 ) gene and the activin receptor–like kinase 1 ( ALK1 ) gene have been ...
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49 Genetic PAH - the Pulmonary Hypertension Association
https://phassociation.org/patients/aboutph/genetic-pah/
Other factors, probably genetic or environmental, are also needed to produce disease because only about 20% of individuals with a BMPR2 mutation ...
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50 Functional mutations in 5′UTR of the BMPR2 gene identified ...
https://pvrinstitute.org/en/pc-journal/explore-the-journal/pulmonary-circulation-vol-6-no-1/functional-mutations-in-5-utr-of-the-bmpr2-gene-identified-in-chinese-families-with-pulmonary-arterial-hypertension/
Pulmonary arterial hypertension (PAH) is a progressive pulmonary vasculopathy with significant morbidity and mortality. Bone morphogenetic protein receptor ...
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51 Direct influence of BMPR2 mutations on cytokine patterns and ...
https://www.medrxiv.org/content/10.1101/2021.05.05.21253970v1.full.pdf
Background: Pulmonary arterial hypertension (PAH) covers a range of ... inflammatory cytokine profile in BMPR2-mutation positive patients ...
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52 Endothelial-to-Mesenchymal Transition in Pulmonary Arterial ...
https://www.liebertpub.com/doi/10.1089/ars.2020.8169
Pulmonary arterial hypertension (PAH) is a cardiopulmonary disorder ... In addition, using a BMPR2-deficient rat line that exhibits ...
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53 High frequency of BMPR2 exonic deletions/duplications in ...
https://europepmc.org/article/pmc/pmc2648061
Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations.
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54 Dataset - European Genome-Phenome Archive
https://ega-archive.org/datasets/EGAD00001005757
Paired-end DNA-seq BAM files from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH).
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55 Can You Inherit Pulmonary Hypertension? - Cleveland Clinic
https://health.clevelandclinic.org/can-you-inherit-pulmonary-hypertension-heres-what-you-should-know/
Inherited gene mutations cause pulmonary hypertension in about 20% of ... “Inheriting a BMPR2 gene mutation does not guarantee that you'll ...
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56 Pulmonary Hypertension - Page 79 - Google Books Result
https://books.google.com/books?id=6P7pE_ePLaoC&pg=PA79&lpg=PA79&dq=bmpr2+hypertension&source=bl&ots=aKMVmXVT2u&sig=ACfU3U0kosyAKdla1Bs7nyW7vGAYd9BD5g&hl=en&sa=X&ved=2ahUKEwjW562z4dn7AhWgi_0HHcRwA28Q6AF6BAguEAM
Therefore, BMPR2 mutations are unlikely to be present in individuals without disease or who are not related to a family with FPAH.
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57 Study of the BMPR2 Gene in Patients with Pulmonary Arterial ...
https://www.archbronconeumol.org/es-pdf-S1579212910700331
› es-pdf-S1579212...
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58 Ironing out pulmonary arterial hypertension - PNAS
https://www.pnas.org/doi/10.1073/pnas.1908298116
(C) Mutations in ferroportin that block hepcidin binding (Left) or mutations in BMP receptor type 2 (BMPR2) associated with PAH that block ...
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59 Report Familial Primary Pulmonary Hypertension (Gene PPH1 ...
https://upload.medbullets.com/journalclub/pubmed_central/10903931.pdf
One of these genes (BMPR2), which encodes bone morphogenetic protein receptor type II, was found to contain five mutations that predict premature termination of ...
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60 The transforming growth factor-β superfamily-related genes
https://www.pediatr-neonatol.com/article/S1875-9572(17)30486-2/fulltext
Pulmonary artery hypertension (PAH) is very rare in childhood, ... A few mutations in other genes participating in the BMPR2 signaling ...
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61 RNAseq Reveals a Novel Pathway of Endothelial Dysfunction
https://spiral.imperial.ac.uk/bitstream/10044/1/25681/2/Rhodes_et_al_04_17_15_clean.pdf
arterial hypertension patients' lungs were analyzed. Differentially expressed genes were related to BMPR2 signaling. Those downregulated were assessed for ...
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62 KoreaMed Synapse
https://synapse.koreamed.org/articles/1097046
Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site ...
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63 Pulmonary Circulation: Diseases and Their Treatment, Fourth ...
https://books.google.com/books?id=pgzYCwAAQBAJ&pg=PA214&lpg=PA214&dq=bmpr2+hypertension&source=bl&ots=noe_4e8HbD&sig=ACfU3U2cFh3456ivgrD3S_MxezU7KDCeQw&hl=en&sa=X&ved=2ahUKEwjW562z4dn7AhWgi_0HHcRwA28Q6AF6BAgvEAM
Heterozygous germline mutations in BMPR2 , encoding a TGF - beta receptor , cause familial primary pulmonary hypertension . The International PPH Consortium ...
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64 FDA-approved Treatments for Pulmonary Hypertension
https://med.stanford.edu/wallcenter/patient-resources/fda.html
Flolan is the most effective drug for the treatment of advanced disease. Studies have shown the drug to be effective in pulmonary arterial hypertension (PAH), ...
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