Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BMPR2: 2695C>T; Arg899Ter
The Role of Bone Morphogenetic Protein Receptor Type 2 (BMPR2) and the Prospects of Utilizing Induced Pluripotent Stem Cells (iPSCs) in Pulmonary Arterial Hypertension Disease Modeling.
Hypoxia-induced pulmonary hypertension upregulates eNOS and TGF-β contributing to sex-linked differences in BMPR2 mutant mice.
Pulmonary Circulation
Erewele, Ejehi O EO; Castellon, Maricela M; Loya, Omar O; Marshboom, Glenn G; Schwartz, Andrew A; Yerlioglu, Kayla K; Callahan, Christopher C; Chen, Jiwang J; Minshall, Richard D RD; Oliveira, Suellen D SD
l-Carnitine therapy improves right heart dysfunction through Cpt1-dependent fatty acid oxidation.
Pulmonary Circulation
Agrawal, Vineet V; Hemnes, Anna R AR; Shelburne, Nicholas J NJ; Fortune, Niki N; Fuentes, Julio L JL; Colvin, Dan D; Calcutt, Marion W MW; Talati, Megha M; Poovey, Emily E; West, James D JD; Brittain, Evan L EL
Sotatercept analog suppresses inflammation to reverse experimental pulmonary arterial hypertension.
Scientific Reports
Joshi, Sachindra R SR; Liu, Jun J; Bloom, Troy T; Karaca Atabay, Elif E; Kuo, Tzu-Hsing TH; Lee, Michael M; Belcheva, Elitza E; Spaits, Matthew M; Grenha, Rosa R; Maguire, Michelle C MC; Frost, Jeffrey L JL; Wang, Kathryn K; Briscoe, Steven D SD; Alexander, Mark J MJ; Herrin, Brantley R BR; Castonguay, Roselyne R; Pearsall, R Scott RS; Andre, Patrick P; Yu, Paul B PB; Kumar, Ravindra R; Li, Gang G
Central Role of Dendritic Cells in Pulmonary Arterial Hypertension in Human and Mice.
International Journal Of Molecular Sciences
van Uden, Denise D; Koudstaal, Thomas T; van Hulst, Jennifer A C JAC; Bergen, Ingrid M IM; Gootjes, Chelsea C; Morrell, Nicholas W NW; van Loo, Geert G; von der Thüsen, Jan H JH; van den Bosch, Thierry P P TPP; Ghigna, Maria-Rosa MR; Perros, Frédéric F; Montani, David D; Kool, Mirjam M; Boomars, Karin A KA; Hendriks, Rudi W RW
Emerging therapies for right ventricular dysfunction and failure.
Cardiovascular Diagnosis And Therapy
Klinke, Anna A; Schubert, Torben T; Müller, Marion M; Legchenko, Ekaterina E; Zelt, Jason G E JGE; Shimauchi, Tsukasa T; Napp, L Christian LC; Rothman, Alexander M K AMK; Bonnet, Sébastien S; Stewart, Duncan J DJ; Hansmann, Georg G; Rudolph, Volker V
Endothelial BMPR2 Loss Drives a Proliferative Response to BMP (Bone Morphogenetic Protein) 9 via Prolonged Canonical Signaling.
Arteriosclerosis, Thrombosis, And Vascular Biology
Theilmann, Anne L AL; Hawke, Lindsey G LG; Hilton, L Rhiannon LR; Whitford, Mara K M MKM; Cole, Devon V DV; Mackeil, Jodi L JL; Dunham-Snary, Kimberly J KJ; Mewburn, Jeffrey J; James, Paula D PD; Maurice, Donald H DH; Archer, Stephen L SL; Ormiston, Mark L ML
Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort.
Plos One
Jang, Albert Youngwoo AY; Kim, Bo-Gyeong BG; Kwon, Sunkoo S; Seo, Jiyoung J; Kim, Hyung Kwan HK; Chang, Hyuk-Jae HJ; Chang, Sung-A SA; Cho, Goo-Yeong GY; Rhee, Sang Jae SJ; Jung, Hae Ok HO; Kim, Kyung-Hee KH; Seo, Hye Sun HS; Kim, Kye Hun KH; Shin, Jinho J; Lee, Jun Soo JS; Kim, Minsu M; Lee, Young Jae YJ; Chung, Wook-Jin WJ
Publication Date: 2020
Variant appearance in text: BMPR2: 2695C>T; Arg899X
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Pluripotent hematopoietic stem cells augment α-adrenergic receptor-mediated contraction of pulmonary artery and contribute to the pathogenesis of pulmonary hypertension.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Hashimoto, Ryota R; Lanier, Gregg M GM; Dhagia, Vidhi V; Joshi, Sachindra R SR; Jordan, Allan A; Waddell, Ian I; Tuder, Rubin R; Stenmark, Kurt R KR; Wolin, Michael S MS; McMurtry, Ivan F IF; Gupte, Sachin A SA
BMPR2 dysfunction impairs insulin signaling and glucose homeostasis in cardiomyocytes.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Hemnes, Anna R AR; Fessel, Joshua P JP; Chen, Xinping X; Zhu, Shijun S; Fortune, Niki L NL; Jetter, Christopher C; Freeman, Michael M; Newman, John H JH; West, James D JD; Talati, Megha H MH
Metabolic Remodeling in the Pressure-Loaded Right Ventricle: Shifts in Glucose and Fatty Acid Metabolism-A Systematic Review and Meta-Analysis.
Journal Of The American Heart Association
Koop, Anne-Marie C AC; Bossers, Guido P L GPL; Ploegstra, Mark-Jan MJ; Hagdorn, Quint A J QAJ; Berger, Rolf M F RMF; Silljé, Herman H W HHW; Bartelds, Beatrijs B
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
Scientific Reports
Barozzi, Chiara C; Galletti, Margherita M; Tomasi, Luciana L; De Fanti, Sara S; Palazzini, Massimiliano M; Manes, Alessandra A; Sazzini, Marco M; Galiè, Nazzareno N
Bone morphogenetic protein signaling is required for RAD51-mediated maintenance of genome integrity in vascular endothelial cells.
Communications Biology
Vattulainen-Collanus, Sanna S; Southwood, Mark M; Yang, Xu Dong XD; Moore, Stephen S; Ghatpande, Prajakta P; Morrell, Nicholas W NW; Lagna, Giorgio G; Hata, Akiko A
Oxidative stress increases M1dG, a major peroxidation-derived DNA adduct, in mitochondrial DNA.
Nucleic Acids Research
Wauchope, Orrette R OR; Mitchener, Michelle M MM; Beavers, William N WN; Galligan, James J JJ; Camarillo, Jeannie M JM; Sanders, William D WD; Kingsley, Philip J PJ; Shim, Ha-Na HN; Blackwell, Thomas T; Luong, Thong T; deCaestecker, Mark M; Fessel, Joshua P JP; Marnett, Lawrence J LJ
Pickworth, Josephine J; Rothman, Alexander A; Iremonger, James J; Casbolt, Helen H; Hopkinson, Kay K; Hickey, Peter M PM; Gladson, Santhi S; Shay, Sheila S; Morrell, Nicholas W NW; Francis, Sheila E SE; West, James D JD; Lawrie, Allan A
Oestrogen inhibition reverses pulmonary arterial hypertension and associated metabolic defects.
The European Respiratory Journal
Chen, Xinping X; Austin, Eric D ED; Talati, Megha M; Fessel, Joshua P JP; Farber-Eger, Eric H EH; Brittain, Evan L EL; Hemnes, Anna R AR; Loyd, James E JE; West, James J
Pulmonary vascular effect of insulin in a rodent model of pulmonary arterial hypertension.
Pulmonary Circulation
Trammell, Aaron W AW; Talati, Megha M; Blackwell, Thomas R TR; Fortune, Niki L NL; Niswender, Kevin D KD; Fessel, Joshua P JP; Newman, John H JH; West, James D JD; Hemnes, Anna R AR
Dysfunctional BMPR2 signaling drives an abnormal endothelial requirement for glutamine in pulmonary arterial hypertension.
Pulmonary Circulation
Egnatchik, Robert A RA; Brittain, Evan L EL; Shah, Amy T AT; Fares, Wassim H WH; Ford, H James HJ; Monahan, Ken K; Kang, Christie J CJ; Kocurek, Emily G EG; Zhu, Shijun S; Luong, Thong T; Nguyen, Thuy T TT; Hysinger, Erik E; Austin, Eric D ED; Skala, Melissa C MC; Young, Jamey D JD; Roberts, L Jackson LJ; Hemnes, Anna R AR; West, James J; Fessel, Joshua P JP
Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.
Bmb Reports
Kim, Myung-Jin MJ; Park, Seon Young SY; Chang, Hae Ryung HR; Jung, Eun Young EY; Munkhjargal, Anudari A; Lim, Jong-Seok JS; Lee, Myeong-Sok MS; Kim, Yonghwan Y