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Journal articles on the topic 'BMPR2 gene'

Author: Grafiati

Published: 6 June 2025

Last updated: 2 August 2025

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1

Theilmann, Anne L., Lindsey G. Hawke, L. Rhiannon Hilton, et al. "Endothelial BMPR2 Loss Drives a Proliferative Response to BMP (Bone Morphogenetic Protein) 9 via Prolonged Canonical Signaling." Arteriosclerosis, Thrombosis, and Vascular Biology 40, no. 11 (2020): 2605–18. http://dx.doi.org/10.1161/atvbaha.119.313357.

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Objective: Pulmonary arterial hypertension is a disease of proliferative vascular occlusion that is strongly linked to mutations in BMPR2 —the gene encoding the BMPR-II (BMP [bone morphogenetic protein] type II receptor). The endothelial-selective BMPR-II ligand, BMP9, reverses disease in animal models of pulmonary arterial hypertension and suppresses the proliferation of healthy endothelial cells. However, the impact of BMPR2 loss on the antiproliferative actions of BMP9 has yet to be assessed. Approach and Results: BMP9 suppressed proliferation in blood outgrowth endothelial cells from healt

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2

Jiang, Simin, Dian Chen, Liangliang Tian, et al. "Role of BMPR2 Mutation in Lung Organoid Differentiation." Biomedicines 13, no. 7 (2025): 1623. https://doi.org/10.3390/biomedicines13071623.

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Background: The bone morphogenetic protein (BMP) signaling pathway is essential for lung development. BMP4, a key regulator, binds to type I (BMPR1) and type II (BMPR2) receptors to initiate downstream signaling. While the inactivation of Bmpr1a and Bmpr1b leads to tracheoesophageal fistulae, the role of BMPR2 mutations in lung epithelial development remains unclear. Methods: We generated induced pluripotent stem cells (iPSCs) from a patient carrying a BMPR2 mutation (c.631C>T), and gene-corrected isogenic controls were created using CRISPR/Cas9. These iPSCs were differentiated into lung pr

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3

Song, Jie, Katrin Hinderhofer, Lilian T. Kaufmann, et al. "BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients." Genes 11, no. 10 (2020): 1168. http://dx.doi.org/10.3390/genes11101168.

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Pathogenic variants have been identified in 85% of heritable pulmonary arterial hypertension (PAH) patients. These variants were mainly located in the bone morphogenetic protein receptor 2 (BMPR2) gene. However, the penetrance of BMPR2 variants was reduced leading to a disease manifestation in only 30% of carriers. In these PAH patients, further modifiers such as additional pathogenic BMPR2 promoter variants could contribute to disease manifestation. Therefore, the aim of this study was to identify BMPR2 promoter variants in PAH patients and to analyze their transcriptional effect on gene expr

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4

Reynolds, Ann M., Wei Xia, Mark D. Holmes, et al. "Bone morphogenetic protein type 2 receptor gene therapy attenuates hypoxic pulmonary hypertension." American Journal of Physiology-Lung Cellular and Molecular Physiology 292, no. 5 (2007): L1182—L1192. http://dx.doi.org/10.1152/ajplung.00020.2006.

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Idiopathic pulmonary arterial hypertension (PAH) is characterized by proliferation of pulmonary vascular endothelial and smooth muscle cells causing increased vascular resistance and right heart failure. Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) are believed to cause the familial form of the disease. Reduced expression of BMPR2 is also noted in secondary PAH. Recent advances in the therapy of PAH have improved quality of life and survival, but many patients continue to do poorly. The possibility of treating PAH via improving BMPR2 signaling is thus a rational consider

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Theobald, Vivienne, Nicola Benjamin, Hans-Jürgen Seyfarth, et al. "Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?" Genes 13, no. 5 (2022): 759. http://dx.doi.org/10.3390/genes13050759.

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Pulmonary arterial hypertension (PAH) can be caused by pathogenic variants in the gene bone morphogenetic protein receptor 2 (BMPR2). While BMPR2 protein expression levels are known to be reduced in the lung tissue of heritable PAH (HPAH) patients, a systematic study evaluating expression in more easily accessible blood samples and its clinical relevance is lacking. Thus, we analyzed the BMPR2 mRNA expression in idiopathic/HPAH patients and healthy controls in blood by quantitative polymerase chain reaction and protein expression by enzyme-linked immunosorbent assay. Clinical parameters includ

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Theobald, Vivienne, Nicola Benjamin, Hans-Jürgen Seyfarth, et al. "Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?" Genes 13, no. 5 (2022): 759. http://dx.doi.org/10.3390/genes13050759.

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Pulmonary arterial hypertension (PAH) can be caused by pathogenic variants in the gene bone morphogenetic protein receptor 2 (BMPR2). While BMPR2 protein expression levels are known to be reduced in the lung tissue of heritable PAH (HPAH) patients, a systematic study evaluating expression in more easily accessible blood samples and its clinical relevance is lacking. Thus, we analyzed the BMPR2 mRNA expression in idiopathic/HPAH patients and healthy controls in blood by quantitative polymerase chain reaction and protein expression by enzyme-linked immunosorbent assay. Clinical parameters includ

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7

Theobald, Vivienne, Nicola Benjamin, Hans-Jürgen Seyfarth, et al. "Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?" Genes 13, no. 5 (2022): 759. http://dx.doi.org/10.3390/genes13050759.

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Pulmonary arterial hypertension (PAH) can be caused by pathogenic variants in the gene bone morphogenetic protein receptor 2 (BMPR2). While BMPR2 protein expression levels are known to be reduced in the lung tissue of heritable PAH (HPAH) patients, a systematic study evaluating expression in more easily accessible blood samples and its clinical relevance is lacking. Thus, we analyzed the BMPR2 mRNA expression in idiopathic/HPAH patients and healthy controls in blood by quantitative polymerase chain reaction and protein expression by enzyme-linked immunosorbent assay. Clinical parameters includ

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8

Lotsios, Nikolaos S., Chrysi Keskinidou, Ioanna Dimopoulou, et al. "Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells." International Journal of Molecular Sciences 25, no. 15 (2024): 8043. http://dx.doi.org/10.3390/ijms25158043.

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Pulmonary arterial hypertension (PAH) is a chronic disease characterized by a progressive increase in mean pulmonary arterial pressure. Mutations in the BMPR2 and AQP1 genes have been described in familial PAH. The bone morphogenetic proteins BMP9 and BMP10 bind with high affinity to BMPR2. Administration of BMP9 has been proposed as a potential therapeutic strategy against PAH, although recent conflicting evidence dispute the effect of such a practice. Considering the involvement of the above molecules in PAH onset, progression, and therapeutic value, we examined the effects of modulation of

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9

Liu, Enli, Adaani E. Frost, Uday R. Popat, and Josef T. Prchal. "Dysregulation of BMPR2, Arginase II and HMGA2 Expression in Idiopathic Myelofibrosis and Secondary Myelofibrosis." Blood 104, no. 11 (2004): 792. http://dx.doi.org/10.1182/blood.v104.11.792.792.

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Abstract Idiopathic myelofibrosis (IMF) is a fatal clonal myeloproliferative disorder, characterized by variable pancytopenia, splenomegaly, leukoerythroblastic blood smear, marrow fibrosis (MF), and myeloid metaplasia. Like all myeloproliferative disorders, it is due to an acquired somatic mutation of a single hematopoietic progenitor. MF has also been reported in systemic lupus and metastatic malignancies involving bone marrow. We have recently demonstrated the occurrence of MF in 85% patients with pulmonary hypertension (PH), which (unlike IMF) is associated with polyclonal hematopoiesis an

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Ongaro, Luisina, Xiang Zhou, Yiming Cui, Ulrich Boehm, and Daniel J. Bernard. "Gonadotrope-specific deletion of the BMP type 2 receptor does not affect reproductive physiology in mice†‡." Biology of Reproduction 102, no. 3 (2019): 639–46. http://dx.doi.org/10.1093/biolre/ioz206.

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Abstract Activins selectively stimulate follicle-stimulating hormone (FSH) secretion by pituitary gonadotrope cells. More recently, other members of the TGFbeta superfamily, the bone morphogenetic proteins (BMPs), were reported to regulate FSH synthesis. Activins and BMPs independently and synergistically stimulate transcription of the FSHbeta subunit (Fshb) gene in immortalized gonadotrope-like cells. Both ligands can signal via the activin receptor type IIA (ACVR2A) to regulate FSH synthesis in vitro. In vivo, global Acvr2a knockout mice exhibit a 60% reduction in circulating FSH relative to

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11

Azahel, Barraza-García, Carbajal-Galindo David, Ramirez-Orozco Judith, Valenzuela-Rocha Erick, and Lazalde Brissia. "Genetic variants of the BMPR2 gene and their contribution to the development of pulmonary arterial hypertension." GSC Advanced Research and Reviews 19, no. 3 (2024): 311–18. https://doi.org/10.5281/zenodo.13622623.

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Pulmonary arterial hypertension (PAH) is a devastating disease characterized by a progressive increase in pressure in the pulmonary arteries. This leads to vascular remodeling and, eventually, right heart failure. Variants in the BMPR2 gene, which encodes the bone morphogenetic protein receptor type 2, are the most common genetic cause of hereditary and idiopathic PAH. These variants disrupt the transforming growth factor-beta (TGF-β) signaling pathway, triggering abnormal proliferation of pulmonary artery smooth muscle cells and apoptosis of endothelial cells. This results in complex vas

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12

Zhong, Botao, Huaihua Yu, Shengming Han, et al. "Functional Study on the BMP Signaling Pathway in the Molting of Scylla paramamosain." Fishes 9, no. 7 (2024): 263. http://dx.doi.org/10.3390/fishes9070263.

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In this study, we added LDN-193189 2HCL to inhibit the BMP signaling pathway in Scylla paramamosain and then explored the function of this pathway in molting through the changes in the growth performance and molt-related gene expression. The study findings indicated that the expression of ACVR1, BMPRIB, and Smad1 in Scylla paramamosain was suppressed when the LDN-193189 2HCL concentration in the culture water was 2 µm/L. Subsequently, following a 30-day experiment, there was a significant reduction in the molting frequency, growth rate, and body size of the S. paramamosain larvae. An analysis

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13

Johnson, Jennifer A., Anna R. Hemnes, Daniel S. Perrien, et al. "Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension." American Journal of Physiology-Lung Cellular and Molecular Physiology 302, no. 5 (2012): L474—L484. http://dx.doi.org/10.1152/ajplung.00202.2011.

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The heritable form of pulmonary arterial hypertension (PAH) is typically caused by a mutation in bone morphogenic protein receptor type 2 ( BMPR2), and mice expressing Bmpr2 mutations develop PAH with features similar to human disease. BMPR2 is known to interact with the cytoskeleton, and human array studies in PAH patients confirm alterations in cytoskeletal pathways. The goal of this study was to evaluate cytoskeletal defects in BMPR2-associated PAH. Expression arrays on our Bmpr2 mutant mouse lungs revealed cytoskeletal defects as a prominent molecular consequence of universal expression of

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14

Awad, Keytam S., Jason M. Elinoff, Shuibang Wang, et al. "Raf/ERK drives the proliferative and invasive phenotype of BMPR2-silenced pulmonary artery endothelial cells." American Journal of Physiology-Lung Cellular and Molecular Physiology 310, no. 2 (2016): L187—L201. http://dx.doi.org/10.1152/ajplung.00303.2015.

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A proliferative endothelial cell phenotype, inflammation, and pulmonary vascular remodeling are prominent features of pulmonary arterial hypertension (PAH). Bone morphogenetic protein type II receptor (BMPR2) loss-of-function is the most common cause of heritable PAH and has been closely linked to the formation of pathological plexiform lesions. Although some BMPR2 mutations leave ligand-dependent responses intact, the disruption of ligand-independent, noncanonical functions are universal among PAH-associated BMPR2 genotypes, but incompletely understood. This study examined the noncanonical si

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Ghigna, Maria-Rosa, Christophe Guignabert, David Montani, et al. "BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension." European Respiratory Journal 48, no. 6 (2016): 1668–81. http://dx.doi.org/10.1183/13993003.00464-2016.

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The impact of bone morphogenetic protein receptor 2 (BMPR2) gene mutations on vascular remodelling in pulmonary arterial hypertension (PAH) is unknown. We sought to identify a histological profile of BMPR2 mutation carriers.Clinical data and lung histology from 44 PAH patients were subjected to systematic analysis and morphometry.Bronchial artery hypertrophy/dilatation and bronchial angiogenesis, as well as muscular remodelling of septal veins were significantly increased in PAH lungs carrying BMPR2 mutations. We found that patients displaying increased bronchial artery remodelling and bronchi

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Talati, M., J. West, T. R. Blackwell, J. E. Loyd, and B. Meyrick. "BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension." American Journal of Physiology-Lung Cellular and Molecular Physiology 299, no. 3 (2010): L363—L373. http://dx.doi.org/10.1152/ajplung.00295.2009.

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Macrophage derived-endothelin-1 (ET-1) has been suggested to contribute to a number of chronic lung diseases. Whether the ET-1 cascade from non-vascular sources (inflammatory cells) also contributes to pulmonary artery hypertension (PAH) and in particular to heritable PAH (HPAH) with known bone morphogenetic protein type 2 receptor (BMPR2) mutations is not known. We tested this notion using bone marrow-derived macrophages (BMDM; precursors of tissue macrophages) isolated from ROSA26rtTAXTetO7-tet-BMPR2R899X mice (model of PAH with universal expression of a mutated BMPR2 gene) with and without

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Taizhanova, Dana, Togzhan Nurpissova, Gulshara Abildinova, Tamilla Martynyuk, Nazgul Kulmyrzayeva, and Elena Zholdybayeva. "Hemodynamic and Genetic Associations with the Risk of Idiopathic Pulmonary Arterial Hypertension Development in an Ethnic Cohort of Kazakhs." Diagnostics 14, no. 23 (2024): 2687. http://dx.doi.org/10.3390/diagnostics14232687.

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Introduction: Idiopathic pulmonary arterial hypertension (IPAH) is a progressive and fatal disease. The aim of this study was to evaluate the association of polymorphism of the type 2 bone morphogenetic protein receptor gene (BMPR2) with the risk of IPAH development in an ethnic group of Kazakhs. We also describe the clinical and hemodynamic characteristics and outcomes of patients with and without carriers of BMPR2 gene mutations in IPAH. No available research highlights this problem in an ethnic group of Kazakhs. Materials and methods: A total of 53 patients of only Kazakh nationality with I

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18

Hilton, L. Rhiannon, Matthew T. Rätsep, M. Martin VandenBroek, et al. "Impaired Interleukin-15 Signaling via BMPR2 Loss Drives Natural Killer Cell Deficiency and Pulmonary Hypertension." Hypertension 79, no. 11 (2022): 2493–504. http://dx.doi.org/10.1161/hypertensionaha.122.19178.

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Background: Natural killer (NK) cell impairment is a feature of pulmonary arterial hypertension (PAH) and contributes to vascular remodeling in animal models of disease. Although mutations in BMPR2 , the gene encoding the BMP (bone morphogenetic protein) type-II receptor, are strongly associated with PAH, the contribution of BMPR2 loss to NK cell impairment remains unknown. We explored the impairment of IL (interleukin)-15 signaling, a central mediator of NK cell homeostasis, as both a downstream target of BMPR2 loss and a contributor to the pathogenesis of PAH. Methods: The expression, traffi

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Girerd, Barbara, Jason Weatherald, David Montani, and Marc Humbert. "Heritable pulmonary hypertension: from bench to bedside." European Respiratory Review 26, no. 145 (2017): 170037. http://dx.doi.org/10.1183/16000617.0037-2017.

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Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children. Predictive testing is also proposed to adult relatives at risk of

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McMurtry, M. Sean, Rohit Moudgil, Kyoko Hashimoto, Sandra Bonnet, Evangelos D. Michelakis, and Stephen L. Archer. "Overexpression of human bone morphogenetic protein receptor 2 does not ameliorate monocrotaline pulmonary arterial hypertension." American Journal of Physiology-Lung Cellular and Molecular Physiology 292, no. 4 (2007): L872—L878. http://dx.doi.org/10.1152/ajplung.00309.2006.

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Pulmonary arterial hypertension (PAH) is associated with mutations of bone morphogenetic protein receptor 2 (BMPR2), and BMPR2 expression decreases with the development of experimental PAH. Decreased BMPR2 expression and impaired intracellular BMP signaling in pulmonary artery (PA) smooth muscle cells (PASMC) suppresses apoptosis and promotes proliferation, thereby contributing to the pathogenesis of PAH. We hypothesized that overexpression of BMPR2 in resistance PAs would ameliorate established monocrotaline PAH. Human BMPR2 was inserted into a serotype 5 adenovirus with a green fluorescent p

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Azahel Barraza-García, David Carbajal-Galindo, Judith Ramirez-Orozco, Erick Valenzuela-Rocha, and Brissia Lazalde. "Genetic variants of the BMPR2 gene and their contribution to the development of pulmonary arterial hypertension." GSC Advanced Research and Reviews 19, no. 3 (2024): 311–18. http://dx.doi.org/10.30574/gscarr.2024.19.3.0227.

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Pulmonary arterial hypertension (PAH) is a devastating disease characterized by a progressive increase in pressure in the pulmonary arteries. This leads to vascular remodeling and, eventually, right heart failure. Variants in the BMPR2 gene, which encodes the bone morphogenetic protein receptor type 2, are the most common genetic cause of hereditary and idiopathic PAH. These variants disrupt the transforming growth factor-beta (TGF-β) signaling pathway, triggering abnormal proliferation of pulmonary artery smooth muscle cells and apoptosis of endothelial cells. This results in complex vascular

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Chen, Hongyan, Chang Liu, Hao Jiang, et al. "Regulatory Role of miRNA-375 in Expression of BMP15/GDF9 Receptors and its Effect on Proliferation and Apoptosis of Bovine Cumulus Cells." Cellular Physiology and Biochemistry 41, no. 2 (2017): 439–50. http://dx.doi.org/10.1159/000456597.

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Background: Bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) are members of the transforming growth factor beta (TGF-β) superfamily. Through autocrine and paracrine mechanisms, these two factors can regulate cell differentiation, proliferation, and other functions in the ovary locally. Furthermore, GDF9 and BMP15 play vital roles in follicular growth, atresia, ovulation, fertilization, reproduction, and maintenance. Numerous studies have demonstrated a synergy between BMP15 and GDF9. Studies in humans and mice have indicated that the synergy between BMP15 and GD

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Tielemans, Birger, Leanda Stoian, Rik Gijsbers, et al. "Cytokines trigger disruption of endothelium barrier function and p38 MAP kinase activation in BMPR2-silenced human lung microvascular endothelial cells." Pulmonary Circulation 9, no. 4 (2019): 204589401988360. http://dx.doi.org/10.1177/2045894019883607.

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The bone morphogenetic protein receptor II (BMPRII) signaling pathway is impaired in pulmonary arterial hypertension and mutations in the BMPR2 gene have been observed in both heritable and idiopathic pulmonary arterial hypertension. However, all BMPR2 mutation carriers do not develop pulmonary arterial hypertension, and inflammation could trigger the development of the disease in BMPR2 mutation carriers. Circulating levels and/or lung tissue expression of cytokines such as tumor necrosis factor-α or interleukin-18 are elevated in patients with pulmonary arterial hypertension and could be invo

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West, James, Xinping Chen, Ling Yan, et al. "Adverse effects of BMPR2 suppression in macrophages in animal models of pulmonary hypertension." Pulmonary Circulation 10, no. 1 (2020): 204589401985648. http://dx.doi.org/10.1177/2045894019856483.

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Inflammatory cells contribute to irreversible damage in pulmonary arterial hypertension (PAH). We hypothesized that in PAH, dysfunctional BMPR2 signaling in macrophages contributes to pulmonary vascular injury and phenotypic changes via proinflammatory cytokine production. Studies were conducted in: (1) Rosa26-rtTA2 3 X TetO7-Bmpr2delx4 FVB/N mice (mutant Bmpr2 is universally expressed, BMPR2delx4 mice) given a weekly intra-tracheal liposomal clodronate injections for four weeks; and (2) LysM-Cre X floxed BMPR2 X floxed eGFP monocyte lineage-specific BMPR2 knockout (KO) mouse model (Bmpr2 gene

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Reynolds, A. M., M. D. Holmes, S. M. Danilov, and P. N. Reynolds. "Targeted gene delivery of BMPR2 attenuates pulmonary hypertension." European Respiratory Journal 39, no. 2 (2011): 329–43. http://dx.doi.org/10.1183/09031936.00187310.

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Wong, Wai K. P., Jane H. Morse, and James A. Knowles. "Evolutionary conservation and mutational spectrum of BMPR2 gene." Gene 368 (March 2006): 84–93. http://dx.doi.org/10.1016/j.gene.2005.10.025.

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Chalmers, Sarah J., Stephen J. Murphy, Laura L. Thompson, et al. "Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension." Pulmonary Circulation 10, no. 3 (2020): 204589402093308. http://dx.doi.org/10.1177/2045894020933081.

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Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II ( BMPR2), the gene most commonly implicated in the pathogenesis of PAH. Herein, we present a novel technique used to identify a pathogenic germline BMPR2 alteration in a 36-year-old female and family members with hereditary pulmonary arterial hypertension who each screened negative by standard cytogenetics and molecular genetics testing.

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Tada, Yuji, Susan Majka, Michelle Carr, et al. "Molecular effects of loss of BMPR2 signaling in smooth muscle in a transgenic mouse model of PAH." American Journal of Physiology-Lung Cellular and Molecular Physiology 292, no. 6 (2007): L1556—L1563. http://dx.doi.org/10.1152/ajplung.00305.2006.

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Idiopathic pulmonary arterial hypertension (IPAH) in human patients is associated with mutations in type 2 receptor for the bone morphogenic protein pathway (BMPR2). Mice expressing an inducible dominant negative form of BMPR2 in smooth muscle develop elevated right ventricular pressures when the transgene is activated. We hypothesized that transcriptional changes in these mice may allow insight into the early molecular events leading to IPAH. Microarray analysis was used to examine the transcriptional changes induced in whole lung by loss of normal smooth muscle cell (SMC) BMPR2 signaling in

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West, James, James E. Loyd, and Rizwan Hamid. "Potential Interventions Against BMPR2-Related Pulmonary Hypertension." Advances in Pulmonary Hypertension 11, no. 1 (2012): 25–32. http://dx.doi.org/10.21693/1933-088x-11.1.25.

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For more than 60 years, researchers have sought to understand the molecular basis of idiopathic pulmonary arterial hypertension (PAH). Recognition of the heritable form of the disease led to the creation of patient registries in the 1980s and 1990s, and discovery of BMPR2 as the cause of roughly 80% of heritable PAH in 2000. With discovery of the disease gene came opportunity for intervention, with focus on 2 alternative approaches. First, it may be possible to correct the effects of BMPR2 mutation directly through interventions targeted at correction of trafficking defects, increasing express

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Wang, Mei-Tzu, Ken-Pen Weng, Sheng-Kai Chang, Wei-Chun Huang, and Lee-Wei Chen. "Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants." International Journal of Molecular Sciences 25, no. 5 (2024): 2734. http://dx.doi.org/10.3390/ijms25052734.

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Asians have a higher carrier rate of pulmonary arterial hypertension (PAH)-related genetic variants than Caucasians do. This study aimed to identify PAH-related genetic variants using whole exome sequencing (WES) in Asian idiopathic and heritable PAH cohorts. A WES library was constructed, and candidate variants were further validated by polymerase chain reaction and Sanger sequencing in the PAH cohort. In a total of 69 patients, the highest incidence of variants was found in the BMPR2, ATP13A3, and GDF2 genes. Regarding the BMPR2 gene variants, there were two nonsense variants (c.994C>T, p

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Nishihara, Ayako, Tetsuro Watabe, Takeshi Imamura, and Kohei Miyazono. "Functional Heterogeneity of Bone Morphogenetic Protein Receptor-II Mutants Found in Patients with Primary Pulmonary Hypertension." Molecular Biology of the Cell 13, no. 9 (2002): 3055–63. http://dx.doi.org/10.1091/mbc.e02-02-0063.

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Germline mutations in the BMPR2 gene encoding bone morphogenetic protein (BMP) type II receptor (BMPR-II) have been reported in patients with primary pulmonary hypertension (PPH), but the contribution of various types of mutations found in PPH to the pathogenesis of clinical phenotypes has not been elucidated. To determine the biological activities of these mutants, we performed functional assays testing their abilities to transduce BMP signals. We found that the reported missense mutations within the extracellular and kinase domains of BMPR-II abrogated their signal-transducing abilities. BMP

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Oriaku, Ifeoma, Mallory N. LeSieur, William C. Nichols, Roberto Barrios, C. Gregory Elliott, and Adaani Frost. "A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype." Pulmonary Circulation 10, no. 3 (2020): 204589402093131. http://dx.doi.org/10.1177/2045894020931315.

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Mutations in the gene encoding bone morphogenetic protein receptor type II ( BMPR2) have been associated with heritable pulmonary arterial hypertension (HPAH), whereas mutations in the gene encoding eukaryotic translation initiation factor 2 alpha kinase 4 ( EIF2AK4) are associated with heritable pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis (HPVOD/PCH). We describe two unrelated patients found to carry the same hitherto unreported pathogenic BMPR2 mutation; one of whom presented with typical pulmonary arterial hypertension, whereas the second patient presented with aggr

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Kobayashi, Aya, Hiroshi Okuda, Fei Xing, et al. "Bone morphogenetic protein 7 in dormancy and metastasis of prostate cancer stem-like cells in bone." Journal of Experimental Medicine 208, no. 13 (2011): 2641–55. http://dx.doi.org/10.1084/jem.20110840.

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Metastatic disease is the major cause of cancer deaths, and recurrent tumors at distant organs are a critical issue. However, how metastatic tumor cells become dormant and how and why tumors recur in target organs are not well understood. In this study, we demonstrate that BMP7 (bone morphogenetic protein 7) secreted from bone stromal cells induces senescence in prostate cancer stem-like cells (CSCs) by activating p38 mitogen-activated protein kinase and increasing expression of the cell cycle inhibitor, p21, and the metastasis suppressor gene, NDRG1 (N-myc downstream-regulated gene 1). This e

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Song, J., C. Eichstaedt, R. Rodríguez Viales, et al. "BMPR2 gene promoter variants analysis in pulmonary arterial hypertension." Pneumologie 72, S 01 (2018): S114. http://dx.doi.org/10.1055/s-0037-1619430.

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Mayeur, Claire, Patricio A. Leyton, Starsha A. Kolodziej, Binglan Yu, and Kenneth D. Bloch. "BMP type II receptors have redundant roles in the regulation of hepatic hepcidin gene expression and iron metabolism." Blood 124, no. 13 (2014): 2116–23. http://dx.doi.org/10.1182/blood-2014-04-572644.

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Key Points Presence of either ActR2a or BMPR2 in hepatocytes is sufficient to maintain hepatic hepcidin gene expression and iron metabolism. Deficiency of both BMP type II receptors in hepatocytes induces iron overload.

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Brenner, Laura, and Wendy K. Chung. "Clinical and Molecular Genetic Features of Hereditary Pulmonary Arterial Hypertension." Comprehensive Physiology 1, no. 4 (2011): 1721–28. https://doi.org/10.1002/j.2040-4603.2011.tb00378.x.

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AbstractPulmonary arterial hypertension (PAH) is a rare disorder that may be hereditary (HPAH), idiopathic (IPAH), or associated with either drug‐toxin exposures or other medical conditions. Familial cases have long been recognised and are usually due to mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2), or, much less commonly, two other members of the transforming growth factor‐β superfamily, activin‐like kinase‐type 1 (ALK1), and endoglin (ENG), which are associated with hereditary hemorrhagic telangiectasia. In addition, approximately 20% of patients with IPAH carry m

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West, James, Julie Harral, Kirk Lane, et al. "Mice expressing BMPR2R899X transgene in smooth muscle develop pulmonary vascular lesions." American Journal of Physiology-Lung Cellular and Molecular Physiology 295, no. 5 (2008): L744—L755. http://dx.doi.org/10.1152/ajplung.90255.2008.

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Familial pulmonary arterial hypertension (PAH) is associated with mutations in bone morphogenetic protein type II receptor (BMPR2). Many of these mutations occur in the BMPR2 tail domain, leaving the SMAD functions intact. To determine the in vivo consequences of BMPR2 tail domain mutation, we created a smooth muscle-specific doxycycline-inducible BMPR2 mutation with an arginine to termination mutation at amino acid 899. When these SM22-rtTA x TetO7-BMPR2R899X mice had transgene induced for 9 wk, starting at 4 wk of age, they universally developed pulmonary vascular pruning as assessed by fluo

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Brown, Austin R., Devon Fitzpatrick, Sanjeev Datar, Thomas F. Bishop, and Alison L. Van Eenennaam. "445 Awardee Talk: Generation of a BMPR2 Heterozygous Ovine Genetic Model for Heritable Pulmonary Arterial Hypertension." Journal of Animal Science 101, Supplement_3 (2023): 21–22. http://dx.doi.org/10.1093/jas/skad281.026.

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Abstract Pulmonary Arterial Hypertension (PAH) is a rare vascular disorder affecting 1 to 2 cases per million individuals. Monoallelic mutations in the BMPR2 gene are the most common genetic risk factor, with about 20% of carriers affected. BMPR2 is a serine/threonine kinase receptor in the transforming growth factor beta (TGF-β) superfamily. Despite well-known associations with PAH, the role of BMPR2 in the progression of the disorder remains poorly understood due in part to the lack of appropriate preclinical genetic models. The homozygous BMPR2 (-/-) knockout genotype is embryonic lethal, w

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Zhang, Lingqun, Qingke Zhang, Kai Hu, et al. "Evolutionary Dynamics and Functional Conservation of amh Signaling in Teleost Lineages." Fishes 10, no. 7 (2025): 327. https://doi.org/10.3390/fishes10070327.

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The anti-Müllerian hormone (amh) and its receptor, amhr2, along with the downstream bone morphogenetic protein receptors (bmprs), have been recognized as the central regulators in teleost sex determination (SD) and differentiation. However, their evolution and function in reproduction among diverse teleost lineages may represent species-specific patterns and still need more explanation. In this study, systematic investigations of amh signaling genes, including amh, amhy (Y-linked paralog of amh), amhr2, bmpr1, and bmpr2, were conducted among teleost species. The results revealed generally cons

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Bisserier, Malik, Michael G. Katz, Carlos Bueno-Beti, et al. "Combination Therapy with STAT3 Inhibitor Enhances SERCA2a-Induced BMPR2 Expression and Inhibits Pulmonary Arterial Hypertension." International Journal of Molecular Sciences 22, no. 17 (2021): 9105. http://dx.doi.org/10.3390/ijms22179105.

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Pulmonary arterial hypertension (PAH) is a devastating lung disease characterized by the progressive obstruction of the distal pulmonary arteries (PA). Structural and functional alteration of pulmonary artery smooth muscle cells (PASMC) and endothelial cells (PAEC) contributes to PA wall remodeling and vascular resistance, which may lead to maladaptive right ventricular (RV) failure and, ultimately, death. Here, we found that decreased expression of sarcoplasmic/endoplasmic reticulum Ca2+ ATPase 2a (SERCA2a) in the lung samples of PAH patients was associated with the down-regulation of bone mo

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Davenport, M., C. T. Thompson, and T. Beaver. "Case of Bone Morphogenetic Protein Receptor Type 2 (BMPR2) Mutation Complicated by Pulmonary Hypertension Encountered at Autopsy." American Journal of Clinical Pathology 162, Supplement_1 (2024): S5. http://dx.doi.org/10.1093/ajcp/aqae129.010.

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Abstract Introduction/Objective Bone morphogenetic protein receptor type 2 is a protein encoded by the BMPR2 gene which regulates cell division and apoptosis. BMPR2 mutations result in monoclonal plexiform lesions of proliferating endothelial cells in pulmonary arterioles, which leads to elevated pulmonary artery pressures, right ventricular failure, and death. Here, we present the case of a 12-year-old male with a known history of pulmonary hypertension secondary to BMPR2 mutation referred for medical autopsy after suffering cardiac arrest and passing away. Methods/Case Report This 12-year-ol

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Puigdevall, Pau, Lucilla Piccari, Isabel Blanco, et al. "Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension." Journal of Medical Genetics 56, no. 7 (2019): 481–90. http://dx.doi.org/10.1136/jmedgenet-2018-105669.

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BackgroundMapping the genetic component of molecular mechanisms responsible for the reduced penetrance (RP) of rare disorders constitutes one of the most challenging problems in human genetics. Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (BMPR2) gene and a wide heterogeneity of penetrance modifier mechanisms. Here, we analyse 32 genotyped individuals from a large Iberian family of 65 members, including 22 carriers of the pathogenic BMPR2 mutation c.1472G>A (p.Arg491Gln

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Portillo, Karina, Salud Santos, Irene Madrigal, et al. "Study of the BMPR2 Gene in Patients with Pulmonary Arterial Hypertension." Archivos de Bronconeumología (English Edition) 46, no. 3 (2010): 129–34. http://dx.doi.org/10.1016/s1579-2129(10)70033-1.

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Liu, Chang, Bao Yuan, Hongyan Chen, et al. "Effects of MiR-375-BMPR2 as a Key Factor Downstream of BMP15/GDF9 on the Smad1/5/8 and Smad2/3 Signaling Pathways." Cellular Physiology and Biochemistry 46, no. 1 (2018): 213–25. http://dx.doi.org/10.1159/000488424.

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Background/Aims: Bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9), which are secreted by oocytes, are important regulators of follicular growth and development and ovarian function. These two factors can regulate the proliferation and apoptosis of cumulus cells via modulation of the Smad signaling pathway. Studies have shown that BMP15 and GDF9 can affect the level of miR-375, whereas the target gene of miR-375 is BMPR2, the type II receptor of BMP15 and GDF9. However, whether or how the BMP15/ GDF9-miR-375-BMPR2 pathway affects the proliferation and apoptosis o

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van Uden, Denise, Thomas Koudstaal, Jennifer A. C. van Hulst, et al. "Central Role of Dendritic Cells in Pulmonary Arterial Hypertension in Human and Mice." International Journal of Molecular Sciences 22, no. 4 (2021): 1756. http://dx.doi.org/10.3390/ijms22041756.

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The pathogenesis of idiopathic pulmonary arterial hypertension (IPAH) is not fully understood, but evidence is accumulating that immune dysfunction plays a significant role. We previously reported that 31-week-old Tnfaip3DNGR1-KO mice develop pulmonary hypertension (PH) symptoms. These mice harbor a targeted deletion of the TNFα-induced protein-3 (Tnfaip3) gene, encoding the NF-κB regulatory protein A20, specifically in type I conventional dendritic cells (cDC1s). Here, we studied the involvement of dendritic cells (DCs) in PH in more detail. We found various immune cells, including DCs, in th

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Eichstaedt, Christina A., Nicola Benjamin, and Ekkehard Grünig. "Genetics of pulmonary hypertension and high-altitude pulmonary edema." Journal of Applied Physiology 128, no. 5 (2020): 1432–38. http://dx.doi.org/10.1152/japplphysiol.00113.2020.

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Heritable pulmonary arterial hypertension (PAH) is an autosomal dominantly inherited disease caused by mutations in the bone morphogenetic protein receptor 2 ( BMPR2) gene and/or genes of its signaling pathway in ~85% of patients. A genetic predisposition to high-altitude pulmonary edema (HAPE) has long been suspected because of familial HAPE cases, but very few possibly disease-causing mutations have been identified to date. This minireview provides an overview of genetic analyses investigating common polymorphisms in HAPE-susceptible patients and the directed identification of disease-causin

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Xu, Zhuoyuan, Hongsheng Zhang, Chen Zhang, Qiangqiang Li, and Hong Gu. "Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension." Journal of Clinical Medicine 11, no. 24 (2022): 7331. http://dx.doi.org/10.3390/jcm11247331.

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Background: Paediatric-onset idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) is partially linked to genetic factors that may also affect treatment response and outcome. The relation between clinical characteristics and pathogenicity of gene variants in childhood IPAH/HPAH is still not well understood. Methods: We retrospectively analyzed IPAH/HPAH paediatric patients aged between 3 months and 18 years under follow-up at a large tertiary referral center. Whole-exome sequencing focused on PAH high-risk genes was performed in all patients. Pathogenicity grading of gene variant s

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van den Heuvel, Lieke M., Samara M. A. Jansen, Suzanne I. M. Alsters, et al. "Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients." Genes 11, no. 10 (2020): 1191. http://dx.doi.org/10.3390/genes11101191.

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Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant was detected in 22 (31%) of them. After the identification of additional PAH associated genes, a next generation sequencing (NGS) panel consisting of 19 genes was developed in 2018. A

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Harper, Rebecca L., Ann M. Reynolds, Claudine S. Bonder, and Paul N. Reynolds. "BMPR2 gene therapy for PAH acts via Smad and non-Smad signalling." Respirology 21, no. 4 (2016): 727–33. http://dx.doi.org/10.1111/resp.12729.

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FU, Li-jun, Ai-qing ZHOU, Mei-rong HUANG, et al. "A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension." Chinese Medical Journal 121, no. 5 (2008): 399–404. http://dx.doi.org/10.1097/00029330-200803010-00004.

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