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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain Murthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob 分享 收藏
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Integrin α5β1 represents a novel therapeutic target to improve vascular remodeling in pulmonary arterial hypertension 整合素α5β1是改善肺动脉高压血管重塑的一个新型治疗靶点。 Lemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Bourgeois, Alice; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien 分享 收藏
Integrin α5β1 contributes to pathological remodeling of the right ventricle in pulmonary arterial hypertension 整合素α5β1参与肺动脉高压中右心室病理性重塑。 Lemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Bourgeois, Alice; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien 分享 收藏
Treatment of pulmonary arterial hypertension by blocking integrin a5b1, a potential disease-modifying strategy 通过阻断整合素α5β1治疗肺动脉高压，一种潜在的改变疾病进程的策略 Montesinos, Monica; Lemay, Sarah-Eve; Kapoor, Parmita; Rapisardi, Hailey; Minh Hai Nguyen; Kim, Haejin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth; Moy, Terence I.; Smukste, Inese; McTeague, T. Andrew; Dowling, James; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan Monroy; Lin, Albert; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min 分享 收藏
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis Ghasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M. 分享 收藏
Implication of Integrin α5β1 in right ventricular failure associated with pulmonary arterial hypertension Lemay, Sarah-Eve; Montesinos, Monica S.; Grobs, Yann; Theberge, Charlie; Sauvaget, Melanie; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Bourgeois, Alice; Breuils-Bonnet, Sandra; Martineau, Sandra; Dowling, James E.; Lu, Min; Saxena, Parmita; Mcteague, T. Andrew; Goodwin, Bryan; Lippa, Blaise; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien 分享 收藏
Identification of integrin a5b1 inhibition as a potentially disease-modifying approach for the treatment of pulmonary arterial hypertension Montesinos, Monica; Lemay, Sarah-Eve; Saxena, Parmita; Rapisardi, Hailey; Nguyen, Minh Hai; Kim, Hae Jin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth H.; Moy, Terence I.; Smukste, Inese; Mcteague, Andrew; Dowling, James E.; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan; Lin, Fu-Yang; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils-Bonnet, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian S.; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min 分享 收藏
The Discovery of MORF-627, a Highly Selective Conformationally-Biased Zwitterionic Integrin αvβ6 Inhibitor for Fibrosis Harrison, Bryce A.; Dowling, James E.; Bursavich, Matthew G.; Troast, Dawn M.; Chong, Katherine M.; Hahn, Kristopher N.; Zhong, Cheng; Mulvihill, Kristen M.; Nguyen, Hanh; Monroy, Meghan F.; Qiao, Qi; Sosa, Brian; Mostafavi, Siavash; Smukste, Inese; Lee, Dooyoung; Cappellucci, Laura; Konopka, Elizabeth H.; Nowakowski, Patrycja; Stawski, Lukasz; Senices, Mayra; Nguyen, Minh Hai; Kapoor, Parmita S.; Luus, Lia; Sullivan, Andrew; Bortolato, Andrea; Svensson, Mats; Hickey, Eugene R.; Konze, Kyle D.; Day, Tyler; Kim, Byungchan; Negri, Ana; Gerasyuto, Aleksey I.; Moy, Terence I.; Lu, Min; Ray, Adrian S.; Wang, Liangsu; Cui, Dan; Lin, Fu-Yang; Lippa, Blaise; Rogers, Bruce N. 分享 收藏
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation Knox, Jessica; Burns, Andrew R.; Cooke, Brittany; Cammalleri, Savina R.; Kitner, Megan; Ching, Justin; Castelli, Jack M. P.; Puumala, Emily; Snider, Jamie; Koury, Emily; Collins, J. B.; Geissah, Salma; Dowling, James J.; Andersen, Erik C.; Stagljar, Igor; Cowen, Leah E.; Lautens, Mark; Zasada, Inga; Roy, Peter J. 分享 收藏
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods Oh, Rachel Y.; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E.; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G.; Walker, Susan; Dowling, James J.; Wilson, Michael D.; Costain, Gregory 分享 收藏
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient 针对50型遗传性痉挛性截瘫的AAV基因治疗：单例患者I期临床试验 Dowling, James J.; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M.; Chen, Xin; Minassian, Berge A.; Cohn, Ronald; Bonnemann, Carsten G.; Gray, Steven J. 分享 收藏
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin 分享 收藏
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