BMPR2 c.2695C>T ;(p.R899*)

Variant ID: 2-203421083-C-T

NM_001204.6(BMPR2):c.2695C>T;(p.R899*)

This variant was identified in 99 publications

View GRCh38 version.




Publications:


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
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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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.

Cells
Devendran, Anichavezhi A; Kar, Sumanta S; Bailey, Rasheed R; Trivieri, Maria Giovanna MG
Publication Date: 2022-11-29

Variant appearance in text: BMPR2: R899X
PubMed Link: 36497082
Variant Present in the following documents:
  • cells-11-03823.pdf
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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
Publication Date: 2022-10

Variant appearance in text: BMPR2: R899X
PubMed Link: 36484056
Variant Present in the following documents:
  • Main text
  • PUL2-12-e12163.pdf
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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
Publication Date: 2022-07

Variant appearance in text: BMPR2: R899X
PubMed Link: 35911183
Variant Present in the following documents:
  • Main text
  • PUL2-12-e12107.pdf
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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
Publication Date: 2022-05-12

Variant appearance in text: BMPR2: R899X
PubMed Link: 35551212
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_11435.pdf
  • 41598_2022_11435_MOESM1_ESM.pdf
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Experimental animal models of pulmonary hypertension: Development and challenges.

Animal Models And Experimental Medicine
Wu, Xiao-Han XH; Ma, Jie-Ling JL; Ding, Dong D; Ma, Yue-Jiao YJ; Wei, Yun-Peng YP; Jing, Zhi-Cheng ZC
Publication Date: 2022-09

Variant appearance in text: BMPR2: R899X
PubMed Link: 35333455
Variant Present in the following documents:
  • Main text
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Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.

Frontiers In Cardiovascular Medicine
Takashima, Tomoya T; Brisset, Sophie S; Furukawa, Asuka A; Taniguchi, Hirohisa H; Takeyasu, Rika R; Kawamura, Akio A; Tamura, Yuichi Y
Publication Date: 2021

Variant appearance in text: BMPR2: 2695C>T; Arg899X
PubMed Link: 34589526
Variant Present in the following documents:
  • Main text
  • fcvm-08-711694.pdf
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Novel Experimental Therapies for Treatment of Pulmonary Arterial Hypertension.

Journal Of Experimental Pharmacology
Zolty, Ronald R
Publication Date: 2021

Variant appearance in text: BMPR2: R899X
PubMed Link: 34429666
Variant Present in the following documents:
  • Main text
  • jep-13-817.pdf
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Two Birds with One Stone: Helping the Pulmonary Arteries and the Right Ventricle by Targeting BMPR2 Signaling.

American Journal Of Respiratory Cell And Molecular Biology
Lee, Michael H MH; Mickael, Claudia C; Graham, Brian B BB
Publication Date: 2021-09

Variant appearance in text: BMPR2: R899X
PubMed Link: 34029508
Variant Present in the following documents:
  • Main text
  • rcmb.2021-0143ED.pdf
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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
Publication Date: 2021-02-10

Variant appearance in text: BMPR2: R899X
PubMed Link: 33578743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oxidative stress induction in woodworkers occupationally exposed to wood dust and formaldehyde.

Journal Of Occupational Medicine And Toxicology (London, England)
Ghelli, Federica F; Bellisario, Valeria V; Squillacioti, Giulia G; Grignani, Elena E; Garzaro, Giacomo G; Buglisi, Martina M; Bergamaschi, Enrico E; Bono, Roberto R
Publication Date: 2021-02-09

Variant appearance in text: BMPR2: R899X
PubMed Link: 33563312
Variant Present in the following documents:
  • 12995_2021_Article_293.pdf
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Approaches to treat pulmonary arterial hypertension by targeting BMPR2: from cell membrane to nucleus.

Cardiovascular Research
Dunmore, Benjamin J BJ; Jones, Rowena J RJ; Toshner, Mark R MR; Upton, Paul D PD; Morrell, Nicholas W NW
Publication Date: 2021-09-28

Variant appearance in text: BMPR2: R899X
PubMed Link: 33399862
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2020-10

Variant appearance in text: BMPR2: R899X
PubMed Link: 33224787
Variant Present in the following documents:
  • Main text
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The role of genomics and genetics in pulmonary arterial hypertension.

Global Cardiology Science & Practice
Swietlik, Emilia M EM; Gräf, Stefan S; Morrell, Nicholas W NW
Publication Date: 2020-04-30

Variant appearance in text: BMPR2: R899X
PubMed Link: 33150157
Variant Present in the following documents:
  • Main text
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DNA Damage and Repair in Pulmonary Arterial Hypertension.

Genes
Sharma, Samantha S; Aldred, Micheala A MA
Publication Date: 2020-10-19

Variant appearance in text: BMPR2: R899X
PubMed Link: 33086628
Variant Present in the following documents:
  • Main text
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BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.

Genes
Song, Jie J; Hinderhofer, Katrin K; Kaufmann, Lilian T LT; Benjamin, Nicola N; Fischer, Christine C; Grünig, Ekkehard E; Eichstaedt, Christina A CA
Publication Date: 2020-10-06

Variant appearance in text: BMPR2: 2695C>T; Arg899*
PubMed Link: 33036198
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2020-11

Variant appearance in text: BMPR-II: R899X
PubMed Link: 32998516
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32966279
Variant Present in the following documents:
  • Main text
  • pone.0238698.pdf
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Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Pulmonary Circulation
Long, Lu L; Yang, Xudong X; Southwood, Mark M; Moore, Stephen S; Crosby, Alexi A; Upton, Paul D PD; Dunmore, Benjamin J BJ; Morrell, Nicholas W NW
Publication Date: 2020

Variant appearance in text: BMPR2: R899X
PubMed Link: 32733669
Variant Present in the following documents:
  • Main text
  • sj-pdf-1-pul-10.1177_2045894020935783.pdf
  • 10.1177_2045894020935783.pdf
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Current and emerging therapeutic approaches to pulmonary hypertension.

Reviews In Cardiovascular Medicine
Bisserier, Malik M; Pradhan, Natasha N; Hadri, Lahouaria L
Publication Date: 2020-06-30

Variant appearance in text: BMPR-II: R899X
PubMed Link: 32706206
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2020-07-20

Variant appearance in text: BMPR2: R899X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Anaemia, iron homeostasis and pulmonary hypertension: a review.

Internal And Emergency Medicine
Sonnweber, Thomas T; Pizzini, Alex A; Tancevski, Ivan I; Löffler-Ragg, Judith J; Weiss, Günter G
Publication Date: 2020-06

Variant appearance in text: BMPR2: R899X
PubMed Link: 32040829
Variant Present in the following documents:
  • Main text
  • 11739_2020_Article_2288.pdf
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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
Publication Date: 2020-02-01

Variant appearance in text: BMPR2: R899X
PubMed Link: 31913656
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic syndrome, neurohumoral modulation, and pulmonary arterial hypertension.

British Journal Of Pharmacology
Maron, Bradley A BA; Leopold, Jane A JA; Hemnes, Anna R AR
Publication Date: 2020-04

Variant appearance in text: BMPR2: R899X
PubMed Link: 31881099
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2020-02-01

Variant appearance in text: BMPR2: R899X
PubMed Link: 31850803
Variant Present in the following documents:
  • Main text
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The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension.

Science Signaling
Morikawa, Masato M; Mitani, Yoshihide Y; Holmborn, Katarina K; Kato, Taichi T; Koinuma, Daizo D; Maruyama, Junko J; Vasilaki, Eleftheria E; Sawada, Hirofumi H; Kobayashi, Mai M; Ozawa, Takayuki T; Morishita, Yasuyuki Y; Bessho, Yasumasa Y; Maeda, Shingo S; Ledin, Johan J; Aburatani, Hiroyuki H; Kageyama, Ryoichiro R; Maruyama, Kazuo K; Heldin, Carl-Henrik CH; Miyazono, Kohei K
Publication Date: 2019-11-12

Variant appearance in text: BMPR2: R899X
PubMed Link: 31719172
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2019-11-05

Variant appearance in text: BMPR2: R899X
PubMed Link: 31657265
Variant Present in the following documents:
  • JAH3-8-e012086-s001.pdf
  • JAH3-8-e012086.pdf
View BVdb publication page



Intracellular iron deficiency in pulmonary arterial smooth muscle cells induces pulmonary arterial hypertension in mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lakhal-Littleton, Samira S; Crosby, Alexi A; Frise, Matthew C MC; Mohammad, Goran G; Carr, Carolyn A CA; Loick, Paul A M PAM; Robbins, Peter A PA
Publication Date: 2019-06-25

Variant appearance in text: BMPR2: R899X
PubMed Link: 31152133
Variant Present in the following documents:
  • Main text
  • pnas.201822010.pdf
  • pnas.1822010116.sapp.pdf
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Obesity alters oestrogen metabolism and contributes to pulmonary arterial hypertension.

The European Respiratory Journal
Mair, Kirsty M KM; Harvey, Katie Y KY; Henry, Alasdair D AD; Hillyard, Dianne Z DZ; Nilsen, Margaret M; MacLean, Margaret R MR
Publication Date: 2019-06

Variant appearance in text: BMPR2: R899X
PubMed Link: 30923189
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Search for Disease-Modifying Therapies in Pulmonary Hypertension.

Journal Of Cardiovascular Pharmacology And Therapeutics
Woodcock, Chen-Shan Chen CC; Chan, Stephen Y SY
Publication Date: 2019-07

Variant appearance in text: BMPR2: R899X
PubMed Link: 30773044
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2019-01-24

Variant appearance in text: BMPR2: R899X
PubMed Link: 30679663
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37277.pdf
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Repurposing Medications for Treatment of Pulmonary Arterial Hypertension: What's Old Is New Again.

Journal Of The American Heart Association
Prins, Kurt W KW; Thenappan, Thenappan T; Weir, E Kenneth EK; Kalra, Rajat R; Pritzker, Marc M; Archer, Stephen L SL
Publication Date: 2019-01-08

Variant appearance in text: BMPR2: R899X
PubMed Link: 30590974
Variant Present in the following documents:
  • Main text
  • JAH3-8-e011343.pdf
View BVdb publication page



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
Publication Date: 2018

Variant appearance in text: BMPR2: R899X
PubMed Link: 30272025
Variant Present in the following documents:
  • Main text
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Pulmonary Vascular Platform Models the Effects of Flow and Pressure on Endothelial Dysfunction in BMPR2 Associated Pulmonary Arterial Hypertension.

International Journal Of Molecular Sciences
D'Amico, Reid W RW; Faley, Shannon S; Shim, Ha-Na HN; Prosser, Joanna R JR; Agrawal, Vineet V; Bellan, Leon M LM; West, James D JD
Publication Date: 2018-08-29

Variant appearance in text: BMPR2: R899X
PubMed Link: 30158434
Variant Present in the following documents:
  • Main text
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The role of endothelial leak in pulmonary hypertension (2017 Grover Conference Series).

Pulmonary Circulation
Zhou, Chun C; Francis, C Michael CM; Xu, Ningyong N; Stevens, Troy T
Publication Date: 2018

Variant appearance in text: BMPR2: R899X
PubMed Link: 30124139
Variant Present in the following documents:
  • Main text
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Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine
Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J
Publication Date: 2018-09

Variant appearance in text: BMPR2: R899*
PubMed Link: 30084161
Variant Present in the following documents:
  • Main text
  • MGG3-6-835.pdf
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BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series).

Pulmonary Circulation
Frump, Andrea A; Prewitt, Allison A; de Caestecker, Mark P MP
Publication Date: 2018

Variant appearance in text: BMPR2: R899X
PubMed Link: 29521190
Variant Present in the following documents:
  • Main text
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The serotonin hypothesis in pulmonary hypertension revisited: targets for novel therapies (2017 Grover Conference Series).

Pulmonary Circulation
MacLean, Margaret Mandy R MMR
Publication Date: 2018

Variant appearance in text: BMPR2: R899X
PubMed Link: 29468941
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2018-04-20

Variant appearance in text: BMPR2: R899X
PubMed Link: 29438559
Variant Present in the following documents:
  • Main text
  • gky089.pdf
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Emerging therapeutics in pulmonary hypertension.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Hensley, Matthew K MK; Levine, Andrea A; Gladwin, Mark T MT; Lai, Yen-Chun YC
Publication Date: 2018-05-01

Variant appearance in text: BMPR2: R899X
PubMed Link: 29388467
Variant Present in the following documents:
  • Main text
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Pulmonary Vascular Research Institute World Congress 2017 Scientific Abstracts.

Pulmonary Circulation
Publication Date: 2017

Variant appearance in text: BMPR-II: R899X
PubMed Link: 29040048
Variant Present in the following documents:
  • 10.1177_2045893217730218.pdf
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Differential IL-1 signaling induced by BMPR2 deficiency drives pulmonary vascular remodeling.

Pulmonary Circulation
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
Publication Date: 2017

Variant appearance in text: BMPR2: R899X
PubMed Link: 28828907
Variant Present in the following documents:
  • Main text
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The role of 5-HT2B receptors in mitral valvulopathy: bone marrow mobilization of endothelial progenitors.

British Journal Of Pharmacology
Ayme-Dietrich, Estelle E; Lawson, Roland R; Côté, Francine F; de Tapia, Claudia C; Da Silva, Sylvia S; Ebel, Claudine C; Hechler, Béatrice B; Gachet, Christian C; Guyonnet, Jérome J; Rouillard, Hélène H; Stoltz, Jordane J; Quentin, Emily E; Banas, Sophie S; Daubeuf, François F; Frossard, Nelly N; Gasser, Bernard B; Mazzucotelli, Jean-Philippe JP; Hermine, Olivier O; Maroteaux, Luc L; Monassier, Laurent L
Publication Date: 2017-11

Variant appearance in text: BMPR2: R899X
PubMed Link: 28806488
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2017-08

Variant appearance in text: BMPR2: R899X
PubMed Link: 28775043
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2017

Variant appearance in text: BMPR2: R899X
PubMed Link: 28704134
Variant Present in the following documents:
  • Main text
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Pulmonary extra-medullary hematopoiesis and pulmonary hypertension from underlying polycythemia vera: a case series.

Pulmonary Circulation
Singh, Inderjit I; Mikita, Geoffrey G; Green, Daniel D; Risquez, Cristobal C; Sanders, Abraham A
Publication Date: 2017-03

Variant appearance in text: BMPR2: R899X
PubMed Link: 28680586
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2017-03

Variant appearance in text: BMPR2: R899X
PubMed Link: 28680578
Variant Present in the following documents:
  • Main text
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BMP type II receptor as a therapeutic target in pulmonary arterial hypertension.

Cellular And Molecular Life Sciences : Cmls
Orriols, Mar M; Gomez-Puerto, Maria Catalina MC; Ten Dijke, Peter P
Publication Date: 2017-08

Variant appearance in text: BMPR2: R899X
PubMed Link: 28447104
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2510.pdf
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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
Publication Date: 2017-06

Variant appearance in text: BMPR2: 2695C>T
PubMed Link: 28391780
Variant Present in the following documents:
  • Main text
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Bone Morphogenetic Proteins in Vascular Homeostasis and Disease.

Cold Spring Harbor Perspectives In Biology
Goumans, Marie-José MJ; Zwijsen, An A; Ten Dijke, Peter P; Bailly, Sabine S
Publication Date: 2018-02-01

Variant appearance in text: BMPR2: R899X
PubMed Link: 28348038
Variant Present in the following documents:
  • Main text
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MxA Is a Novel Regulator of Endosome-Associated Transcriptional Signaling by Bone Morphogenetic Proteins 4 and 9 (BMP4 and BMP9).

Plos One
Yuan, Huijuan H; Sehgal, Pravin B PB
Publication Date: 2016

Variant appearance in text: BMPR2: R899X
PubMed Link: 27875556
Variant Present in the following documents:
  • pone.0166382.pdf
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