Pediatric pulmonary veno‐occlusive disease associated with a novel BMPR2 variant
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25877
Abstract: Pulmonary veno‐occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive PH on the distinct genetic impact. A 29‐month‐old boy presented with a loss of consciousness. He had severe PH refractory to pulmonary vasodilators.… read more here.
Keywords: bmpr2 variant; veno occlusive; disease; occlusive disease ... See more keywords
The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2020.06.068
Abstract: BACKGROUND Mutations in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2) are the most common genetic risk factors underlying pulmonary arterial hypertension (PAH). However, the features of PAH-related BMPR2 rare variants remain unclear.… read more here.
Keywords: rare variants; bmpr2 rare; bmpr2; reference population ... See more keywords
Neonatal exposure to agonists and antagonists of sex steroid receptors induces changes in the expression of oocyte-derived growth factors and their receptors in ovarian follicles in gilts.
Sign Up to like & getrecommendations! Published in 2019 at "Theriogenology"
DOI: 10.1016/j.theriogenology.2019.05.018
Abstract: The objective of the present study was to examine the effects of neonatal exposure to either agonists or antagonists of androgen and estrogen receptors on the expression of growth and differentiation factor 9 (GDF9) and… read more here.
Keywords: bmp15; ovarian follicles; agonists antagonists; bmpr2 ... See more keywords
New pathogenic variant of BMPR2 in pulmonary arterial hypertension
Sign Up to like & getrecommendations! Published in 2019 at "Cardiology in the Young"
DOI: 10.1017/s1047951119000015
Abstract: Abstract Objectives: The aim of this study was to evaluate the variant frequency of pulmonary arterial hypertension-related genes and provide theoretical basis for genetic screening of patients with pulmonary arterial hypertension further. Methods: Ten genes… read more here.
Keywords: bmpr2; pulmonary arterial; patients pulmonary; variant ... See more keywords
A11385 ADAR1 is a critical downstream effector of BMPR2 signaling in pulmonary arterial hypertension
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Hypertension"
DOI: 10.1097/01.hjh.0000548246.43979.8b
Abstract: Objectives: Pulmonary arterial hypertension (PAH) is a fatal disease which is characterized by pulmonary artery endothelial cell (PAEC) dysfunction and occlusive vascular remodeling. Activated bone morphogenetic protein type 2 receptor (BMPR2) signaling plays a key… read more here.
Keywords: bmpr2 signaling; pulmonary arterial; expression; hypertension ... See more keywords
Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves’ disease patients
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13425
Abstract: In this study, we analysed the possible influence of the c.419‐43delT BMPR2 variant in patients with Graves’ disease (GD), in a molecular basis, focusing our efforts on possible alterations in the mRNA processing and synthesis.… read more here.
Keywords: lymphoblastoid cell; bmpr2 gene; cell lines; graves disease ... See more keywords
S122 A role for the bone morphogenetic protein type 2 receptor (bmpr2) in differentiation of the common myeloid progenitor lineage in mice and humans
Sign Up to like & getrecommendations! Published in 2017 at "Thorax"
DOI: 10.1136/thoraxjnl-2017-210983.128
Abstract: Rationale There is increasing evidence of a link between abnormalities in the myeloid cell lineage and pulmonary arterial hypertension (PAH). Heterozygous mutations in the gene encoding the bone morphogenetic protein type 2 receptor (BMPR2) are… read more here.
Keywords: lineage; bmpr2flox flox; flox mice; mice ... See more keywords
Regulation of the Methylation and Expression Levels of the BMPR2 Gene by SIN3a as a Novel Therapeutic Mechanism in Pulmonary Arterial Hypertension
Sign Up to like & getrecommendations! Published in 2021 at "Circulation"
DOI: 10.1161/circulationaha.120.047978
Abstract: Supplemental Digital Content is available in the text. Background: Epigenetic mechanisms are critical in the pathogenesis of pulmonary arterial hypertension (PAH). Previous studies have suggested that hypermethylation of the BMPR2 (bone morphogenetic protein receptor type… read more here.
Keywords: expression; bmpr2; pulmonary arterial; sin3a ... See more keywords
FHIT, a Novel Modifier Gene in Pulmonary Arterial Hypertension
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Respiratory and Critical Care Medicine"
DOI: 10.1164/rccm.201712-2553oc
Abstract: Rationale: Pulmonary arterial hypertension (PAH) is characterized by progressive narrowing of pulmonary arteries, resulting in right heart failure and death. BMPR2 (bone morphogenetic protein receptor type 2) mutations account for most familial PAH forms whereas… read more here.
Keywords: pah; bmpr2; pulmonary arterial; gene ... See more keywords
Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050759
Abstract: 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… read more here.
Keywords: expression; mrna expression; bmpr2 mrna; blood ... See more keywords
Combination Therapy with STAT3 Inhibitor Enhances SERCA2a-Induced BMPR2 Expression and Inhibits Pulmonary Arterial Hypertension
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22179105
Abstract: 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)… read more here.
Keywords: expression; bmpr2 expression; bmpr2; stat3 inhibitor ... See more keywords