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: 994C>T; Arg332Ter
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
Genes
van den Heuvel, Lieke M LM; Jansen, Samara M A SMA; Alsters, Suzanne I M SIM; Post, Marco C MC; van der Smagt, Jasper J JJ; Handoko-De Man, Frances S FS; van Tintelen, J Peter JP; Gille, Hans H; Christiaans, Imke I; Vonk Noordegraaf, Anton A; Bogaard, HarmJan H; Houweling, Arjan C AC
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: 994C>T; Arg332X
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
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
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nature Communications
Gräf, Stefan S; Haimel, Matthias M; Bleda, Marta M; Hadinnapola, Charaka C; Southgate, Laura L; Li, Wei W; Hodgson, Joshua J; Liu, Bin B; Salmon, Richard M RM; Southwood, Mark M; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Aldred, Micheala M; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Newnham, Michael M; Olschewski, Andrea A; Olschewski, Horst H; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Stein, Dan F DF; Suntharalingam, Jay J; Swietlik, Emilia M EM; Toshner, Mark R MR; van Heel, David A DA; Vonk Noordegraaf, Anton A; Waisfisz, Quinten Q; Wharton, John J; Wort, Stephen J SJ; Ouwehand, Willem H WH; Soranzo, Nicole N; Lawrie, Allan A; Upton, Paul D PD; Wilkins, Martin R MR; Trembath, Richard C RC; Morrell, Nicholas W NW
Publication Date: 2018-04-12
Variant appearance in text: BMPR2: 994C>T; Arg332Ter
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
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
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.
American Journal Of Respiratory And Critical Care Medicine
Talati, Megha H MH; Brittain, Evan L EL; Fessel, Joshua P JP; Penner, Niki N; Atkinson, James J; Funke, Mitch M; Grueter, Carrie C; Jerome, W Gray WG; Freeman, Michael M; Newman, John H JH; West, James J; Hemnes, Anna R AR
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
Molecular Genetics & Genomic Medicine
Vattulainen, Sanna S; Aho, Joonas J; Salmenperä, Pertteli P; Bruce, Siina S; Tallila, Jonna J; Gentile, Massimiliano M; Sankelo, Marja M; Laitinen, Tarja T; Koskenvuo, Juha W JW; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S
Publication Date: 2015-07
Variant appearance in text: BMPR2: 994C>T; Arg332X; rs137852751
Metabolomic analysis of bone morphogenetic protein receptor type 2 mutations in human pulmonary endothelium reveals widespread metabolic reprogramming.
Pulmonary Circulation
Fessel, Joshua P JP; Hamid, Rizwan R; Wittmann, Bryan M BM; Robinson, Linda J LJ; Blackwell, Tom T; Tada, Yuji Y; Tanabe, Nobuhiro N; Tatsumi, Koichiro K; Hemnes, Anna R AR; West, James D JD
Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Johnson, Jennifer A JA; Hemnes, Anna R AR; Perrien, Daniel S DS; Schuster, Manfred M; Robinson, Linda J LJ; Gladson, Santhi S; Loibner, Hans H; Bai, Susan S; Blackwell, Tom R TR; Tada, Yuji Y; Harral, Julie W JW; Talati, Megha M; Lane, Kirk B KB; Fagan, Karen A KA; West, James J
Oxidative injury is a common consequence of BMPR2 mutations.
Pulmonary Circulation
Lane, Kirk L KL; Talati, Megha M; Austin, Eric E; Hemnes, Anna R AR; Johnson, Jennifer A JA; Fessel, Joshua P JP; Blackwell, Tom T; Mernaugh, Ray L RL; Robinson, Linda L; Fike, Candice C; Roberts, L Jackson LJ; West, James J
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
American Journal Of Human Genetics
Machado, R D RD; Pauciulo, M W MW; Thomson, J R JR; Lane, K B KB; Morgan, N V NV; Wheeler, L L; Phillips, J A JA; Newman, J J; Williams, D D; Galiè, N N; Manes, A A; McNeil, K K; Yacoub, M M; Mikhail, G G; Rogers, P P; Corris, P P; Humbert, M M; Donnai, D D; Martensson, G G; Tranebjaerg, L L; Loyd, J E JE; Trembath, R C RC; Nichols, W C WC