日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine

红细胞 5-氨基乙酰丙酸 (5ALA) 合成障碍的小鼠模型及其对吡哆醇的条件性合成致死依赖性

Ducamp, Sarah; Sendamarai, Anoop K; Campagna, Dean R; Chin, Desmond Wai Loon; Fujiwara, Yuko; Schmidt, Paul J; Fleming, Mark D

Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk

多种族肺癌全基因组关联研究荟萃分析揭示了易感基因位点,并阐明了与吸烟无关的遗传风险。

Gorman, Bryan R; Ji, Sun-Gou; Francis, Michael; Sendamarai, Anoop K; Shi, Yunling; Devineni, Poornima; Saxena, Uma; Partan, Elizabeth; DeVito, Andrea K; Byun, Jinyoung; Han, Younghun; Xiao, Xiangjun; Sin, Don D; Timens, Wim; Moser, Jennifer; Muralidhar, Sumitra; Ramoni, Rachel; Hung, Rayjean J; McKay, James D; Bossé, Yohan; Sun, Ryan; Amos, Christopher I; Pyarajan, Saiju

Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program

百万退伍军人计划中胸主动脉瘤和夹层的全基因组关联研究

Klarin, Derek; Devineni, Poornima; Sendamarai, Anoop K; Angueira, Anthony R; Graham, Sarah E; Shen, Ying H; Levin, Michael G; Pirruccello, James P; Surakka, Ida; Karnam, Purushotham R; Roychowdhury, Tanmoy; Li, Yanming; Wang, Minxian; Aragam, Krishna G; Paruchuri, Kaavya; Zuber, Verena; Shakt, Gabrielle E; Tsao, Noah L; Judy, Renae L; Vy, Ha My T; Verma, Shefali S; Rader, Daniel J; Do, Ron; Bavaria, Joseph E; Nadkarni, Girish N; Ritchie, Marylyn D; Burgess, Stephen; Guo, Dong-Chuan; Ellinor, Patrick T; LeMaire, Scott A; Milewicz, Dianna M; Willer, Cristen J; Natarajan, Pradeep; Tsao, Philip S; Pyarajan, Saiju; Damrauer, Scott M

Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

TCF7L2 中的调节变异与胸主动脉瘤有关

Tanmoy Roychowdhury, Haocheng Lu, Whitney E Hornsby, Bradley Crone, Gao T Wang, Dong-Chuan Guo, Anoop K Sendamarai, Poornima Devineni, Maoxuan Lin, Wei Zhou, Sarah E Graham, Brooke N Wolford, Ida Surakka, Zhenguo Wang, Lin Chang, Jifeng Zhang, Michael Mathis, Chad M Brummett, Tori L Melendez, Michae

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia

铁硫簇生物合成蛋白HSCB的突变会导致先天性铁粒幼细胞性贫血。

Andrew Crispin ,Chaoshe Guo ,Caiyong Chen ,Dean R Campagna ,Paul J Schmidt ,Daniel Lichtenstein ,Chang Cao ,Anoop K Sendamarai ,Gordon J Hildick-Smith ,Nicholas C Huston ,Jeanne Boudreaux ,Sylvia S Bottomley ,Matthew M Heeney ,Barry H Paw ,Mark D Fleming ,Sarah Ducamp

Abstracts from the 51(st) European Society of Human Genetics Conference: Electronic Posters

第51届欧洲人类遗传学会会议摘要:电子海报

Yengo, Loïc; Vedantam, Sailaja; Marouli, Eirini; Sidorenko, Julia; Bartell, Eric; Sakaue, Saori; Graff, Marielisa; Eliasen, Anders U; Jiang, Yunxuan; Raghavan, Sridharan; Miao, Jenkai; Arias, Joshua D; Graham, Sarah E; Mukamel, Ronen E; Spracklen, Cassandra N; Yin, Xianyong; Chen, Shyh-Huei; Ferreira, Teresa; Highland, Heather H; Ji, Yingjie; Karaderi, Tugce; Lin, Kuang; Lüll, Kreete; Malden, Deborah E; Medina-Gomez, Carolina; Machado, Moara; Moore, Amy; Rüeger, Sina; Sim, Xueling; Vrieze, Scott; Ahluwalia, Tarunveer S; Akiyama, Masato; Allison, Matthew A; Alvarez, Marcus; Andersen, Mette K; Ani, Alireza; Appadurai, Vivek; Arbeeva, Liubov; Bhaskar, Seema; Bielak, Lawrence F; Bollepalli, Sailalitha; Bonnycastle, Lori L; Bork-Jensen, Jette; Bradfield, Jonathan P; Bradford, Yuki; Braund, Peter S; Brody, Jennifer A; Burgdorf, Kristoffer S; Cade, Brian E; Cai, Hui; Cai, Qiuyin; Campbell, Archie; Cañadas-Garre, Marisa; Catamo, Eulalia; Chai, Jin-Fang; Chai, Xiaoran; Chang, Li-Ching; Chang, Yi-Cheng; Chen, Chien-Hsiun; Chesi, Alessandra; Choi, Seung Hoan; Chung, Ren-Hua; Cocca, Massimiliano; Concas, Maria Pina; Couture, Christian; Cuellar-Partida, Gabriel; Danning, Rebecca; Daw, E Warwick; Degenhard, Frauke; Delgado, Graciela E; Delitala, Alessandro; Demirkan, Ayse; Deng, Xuan; Devineni, Poornima; Dietl, Alexander; Dimitriou, Maria; Dimitrov, Latchezar; Dorajoo, Rajkumar; Ekici, Arif B; Engmann, Jorgen E; Fairhurst-Hunter, Zammy; Farmaki, Aliki-Eleni; Faul, Jessica D; Fernandez-Lopez, Juan-Carlos; Forer, Lukas; Francescatto, Margherita; Freitag-Wolf, Sandra; Fuchsberger, Christian; Galesloot, Tessel E; Gao, Yan; Gao, Zishan; Geller, Frank; Giannakopoulou, Olga; Giulianini, Franco; Gjesing, Anette P; Goel, Anuj; Gordon, Scott D; Gorski, Mathias; Grove, Jakob; Guo, Xiuqing; Gustafsson, Stefan; Haessler, Jeffrey; Hansen, Thomas F; Havulinna, Aki S; Haworth, Simon J; He, Jing; Heard-Costa, Nancy; Hebbar, Prashantha; Hindy, George; Ho, Yuk-Lam A; Hofer, Edith; Holliday, Elizabeth; Horn, Katrin; Hornsby, Whitney E; Hottenga, Jouke-Jan; Huang, Hongyan; Huang, Jie; Huerta-Chagoya, Alicia; Huffman, Jennifer E; Hung, Yi-Jen; Huo, Shaofeng; Hwang, Mi Yeong; Iha, Hiroyuki; Ikeda, Daisuke D; Isono, Masato; Jackson, Anne U; Jäger, Susanne; Jansen, Iris E; Johansson, Ingegerd; Jonas, Jost B; Jonsson, Anna; Jørgensen, Torben; Kalafati, Ioanna-Panagiota; Kanai, Masahiro; Kanoni, Stavroula; Kårhus, Line L; Kasturiratne, Anuradhani; Katsuya, Tomohiro; Kawaguchi, Takahisa; Kember, Rachel L; Kentistou, Katherine A; Kim, Han-Na; Kim, Young Jin; Kleber, Marcus E; Knol, Maria J; Kurbasic, Azra; Lauzon, Marie; Le, Phuong; Lea, Rodney; Lee, Jong-Young; Leonard, Hampton L; Li, Shengchao A; Li, Xiaohui; Li, Xiaoyin; Liang, Jingjing; Lin, Honghuang; Lin, Shih-Yi; Liu, Jun; Liu, Xueping; Lo, Ken Sin; Long, Jirong; Lores-Motta, Laura; Luan, Jian'an; Lyssenko, Valeriya; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Mamakou, Vasiliki; Mangino, Massimo; Manichaikul, Ani; Marten, Jonathan; Mattheisen, Manuel; Mavarani, Laven; McDaid, Aaron F; Meidtner, Karina; Melendez, Tori L; Mercader, Josep M; Milaneschi, Yuri; Miller, Jason E; Millwood, Iona Y; Mishra, Pashupati P; Mitchell, Ruth E; Møllehave, Line T; Morgan, Anna; Mucha, Soeren; Munz, Matthias; Nakatochi, Masahiro; Nelson, Christopher P; Nethander, Maria; Nho, Chu Won; Nielsen, Aneta A; Nolte, Ilja M; Nongmaithem, Suraj S; Noordam, Raymond; Ntalla, Ioanna; Nutile, Teresa; Pandit, Anita; Christofidou, Paraskevi; Pärna, Katri; Pauper, Marc; Petersen, Eva R B; Petersen, Liselotte V; Pitkänen, Niina; Polašek, Ozren; Poveda, Alaitz; Preuss, Michael H; Pyarajan, Saiju; Raffield, Laura M; Rakugi, Hiromi; Ramirez, Julia; Rasheed, Asif; Raven, Dennis; Rayner, Nigel W; Riveros, Carlos; Rohde, Rebecca; Ruggiero, Daniela; Ruotsalainen, Sanni E; Ryan, Kathleen A; Sabater-Lleal, Maria; Saxena, Richa; Scholz, Markus; Sendamarai, Anoop; Shen, Botong; Shi, Jingchunzi; Shin, Jae Hun; Sidore, Carlo; Sitlani, Colleen M; Slieker, Roderick C; Smit, Roelof A J; Smith, Albert V; Smith, Jennifer A; Smyth, Laura J; Southam, Lorraine; Steinthorsdottir, Valgerdur; Sun, Liang; Takeuchi, Fumihiko; Tallapragada, Divya Sri Priyanka; Taylor, Kent D; Tayo, Bamidele O; Tcheandjieu, Catherine; Terzikhan, Natalie; Tesolin, Paola; Teumer, Alexander; Theusch, Elizabeth; Thompson, Deborah J; Thorleifsson, Gudmar; Timmers, Paul R H J; Trompet, Stella; Turman, Constance; Vaccargiu, Simona; van der Laan, Sander W; van der Most, Peter J; van Klinken, Jan B; van Setten, Jessica; Verma, Shefali S; Verweij, Niek; Veturi, Yogasudha; Wang, Carol A; Wang, Chaolong; Wang, Lihua; Wang, Zhe; Warren, Helen R; Bin Wei, Wen; Wickremasinghe, Ananda R; Wielscher, Matthias; Wiggins, Kerri L; Winsvold, Bendik S; Wong, Andrew; Wu, Yang; Wuttke, Matthias; Xia, Rui; Xie, Tian; Yamamoto, Ken; Yang, Jingyun; Yao, Jie; Young, Hannah; Yousri, Noha A; Yu, Lei; Zeng, Lingyao; Zhang, Weihua; Zhang, Xinyuan; Zhao, Jing-Hua; Zhao, Wei; Zhou, Wei; Zimmermann, Martina E; Zoledziewska, Magdalena; Adair, Linda S; Adams, Hieab H H; Aguilar-Salinas, Carlos A; Al-Mulla, Fahd; Arnett, Donna K; Asselbergs, Folkert W; Åsvold, Bjørn Olav; Attia, John; Banas, Bernhard; Bandinelli, Stefania; Bennett, David A; Bergler, Tobias; Bharadwaj, Dwaipayan; Biino, Ginevra; Bisgaard, Hans; Boerwinkle, Eric; Böger, Carsten A; Bønnelykke, Klaus; Boomsma, Dorret I; Børglum, Anders D; Borja, Judith B; Bouchard, Claude; Bowden, Donald W; Brandslund, Ivan; Brumpton, Ben; Buring, Julie E; Caulfield, Mark J; Chambers, John C; Chandak, Giriraj R; Chanock, Stephen J; Chaturvedi, Nish; Chen, Yii-Der Ida; Chen, Zhengming; Cheng, Ching-Yu; Christophersen, Ingrid E; Ciullo, Marina; Cole, John W; Collins, Francis S; Cooper, Richard S; Cruz, Miguel; Cucca, Francesco; Cupples, L Adrienne; Cutler, Michael J; Damrauer, Scott M; Dantoft, Thomas M; de Borst, Gert J; de Groot, Lisette C P G M; De Jager, Philip L; de Kleijn, Dominique P V; Janaka de Silva, H; Dedoussis, George V; den Hollander, Anneke I; Du, Shufa; Easton, Douglas F; Elders, Petra J M; Eliassen, A Heather; Ellinor, Patrick T; Elmståhl, Sölve; Erdmann, Jeanette; Evans, Michele K; Fatkin, Diane; Feenstra, Bjarke; Feitosa, Mary F; Ferrucci, Luigi; Ford, Ian; Fornage, Myriam; Franke, Andre; Franks, Paul W; Freedman, Barry I; Gasparini, Paolo; Gieger, Christian; Girotto, Giorgia; Goddard, Michael E; Golightly, Yvonne M; Gonzalez-Villalpando, Clicerio; Gordon-Larsen, Penny; Grallert, Harald; Grant, Struan F A; Grarup, Niels; Griffiths, Lyn; Gudnason, Vilmundur; Haiman, Christopher; Hakonarson, Hakon; Hansen, Torben; Hartman, Catharina A; Hattersley, Andrew T; Hayward, Caroline; Heckbert, Susan R; Heng, Chew-Kiat; Hengstenberg, Christian; Hewitt, Alex W; Hishigaki, Haretsugu; Hoyng, Carel B; Huang, Paul L; Huang, Wei; Hunt, Steven C; Hveem, Kristian; Hyppönen, Elina; Iacono, William G; Ichihara, Sahoko; Ikram, M Arfan; Isasi, Carmen R; Jackson, Rebecca D; Jarvelin, Marjo-Riitta; Jin, Zi-Bing; Jöckel, Karl-Heinz; Joshi, Peter K; Jousilahti, Pekka; Jukema, J Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kang, Kui Dong; Kaprio, Jaakko; Kardia, Sharon L R; Karpe, Fredrik; Kato, Norihiro; Kee, Frank; Kessler, Thorsten; Khera, Amit V; Khor, Chiea Chuen; Kiemeney, Lambertus A L M; Kim, Bong-Jo; Kim, Eung Kweon; Kim, Hyung-Lae; Kirchhof, Paulus; Kivimaki, Mika; Koh, Woon-Puay; Koistinen, Heikki A; Kolovou, Genovefa D; Kooner, Jaspal S; Kooperberg, Charles; Köttgen, Anna; Kovacs, Peter; Kraaijeveld, Adriaan; Kraft, Peter; Krauss, Ronald M; Kumari, Meena; Kutalik, Zoltan; Laakso, Markku; Lange, Leslie A; Langenberg, Claudia; Launer, Lenore J; Le Marchand, Loic; Lee, Hyejin; Lee, Nanette R; Lehtimäki, Terho; Li, Huaixing; Li, Liming; Lieb, Wolfgang; Lin, Xu; Lind, Lars; Linneberg, Allan; Liu, Ching-Ti; Liu, Jianjun; Loeffler, Markus; London, Barry; Lubitz, Steven A; Lye, Stephen J; Mackey, David A; Mägi, Reedik; Magnusson, Patrik K E; Marcus, Gregory M; Vidal, Pedro Marques; Martin, Nicholas G; März, Winfried; Matsuda, Fumihiko; McGarrah, Robert W; McGue, Matt; McKnight, Amy Jayne; Medland, Sarah E; Mellström, Dan; Metspalu, Andres; Mitchell, Braxton D; Mitchell, Paul; Mook-Kanamori, Dennis O; Morris, Andrew D; Mucci, Lorelei A; Munroe, Patricia B; Nalls, Mike A; Nazarian, Saman; Nelson, Amanda E; Neville, Matt J; Newton-Cheh, Christopher; Nielsen, Christopher S; Nöthen, Markus M; Ohlsson, Claes; Oldehinkel, Albertine J; Orozco, Lorena; Pahkala, Katja; Pajukanta, Päivi; Palmer, Colin N A; Parra, Esteban J; Pattaro, Cristian; Pedersen, Oluf; Pennell, Craig E; Penninx, Brenda W J H; Perusse, Louis; Peters, Annette; Peyser, Patricia A; Porteous, David J; Posthuma, Danielle; Power, Chris; Pramstaller, Peter P; Province, Michael A; Qi, Qibin; Qu, Jia; Rader, Daniel J; Raitakari, Olli T; Ralhan, Sarju; Rallidis, Loukianos S; Rao, Dabeeru C; Redline, Susan; Reilly, Dermot F; Reiner, Alexander P; Rhee, Sang Youl; Ridker, Paul M; Rienstra, Michiel; Ripatti, Samuli; Ritchie, Marylyn D; Roden, Dan M; Rosendaal, Frits R; Rotter, Jerome I; Rudan, Igor; Rutters, Femke; Sabanayagam, Charumathi; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J; Sanghera, Dharambir K; Sattar, Naveed; Schmidt, Börge; Schmidt, Helena; Schmidt, Reinhold; Schulze, Matthias B; Schunkert, Heribert; Scott, Laura J; Scott, Rodney J; Sever, Peter; Shiroma, Eric J; Shoemaker, M Benjamin; Shu, Xiao-Ou; Simonsick, Eleanor M; Sims, Mario; Singh, Jai Rup; Singleton, Andrew B; Sinner, Moritz F; Smith, J Gustav; Snieder, Harold; Spector, Tim D; Stampfer, Meir J; Stark, Klaus J; Strachan, David P; 't Hart, Leen M; Tabara, Yasuharu; Tang, Hua; Tardif, Jean-Claude; Thanaraj, Thangavel A; Timpson, Nicholas J; Tönjes, Anke; Tremblay, Angelo; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Maria-Teresa; Uitterlinden, Andre G; van Dam, Rob M; van der Harst, Pim; Van der Velde, Nathalie; van Duijn, Cornelia M; van Schoor, Natasja M; Vitart, Veronique; Völker, Uwe; Vollenweider, Peter; Völzke, Henry; Wacher-Rodarte, Niels H; Walker, Mark; Wang, Ya Xing; Wareham, Nicholas J; Watanabe, Richard M; Watkins, Hugh; Weir, David R; Werge, Thomas M; Widen, Elisabeth; Wilkens, Lynne R; Willemsen, Gonneke; Willett, Walter C; Wilson, James F; Wong, Tien-Yin; Woo, Jeong-Taek; Wright, Alan F; Wu, Jer-Yuarn; Xu, Huichun; Yajnik, Chittaranjan S; Yokota, Mitsuhiro; Yuan, Jian-Min; Zeggini, Eleftheria; Zemel, Babette S; Zheng, Wei; Zhu, Xiaofeng; Zmuda, Joseph M; Zonderman, Alan B; Zwart, John-Anker; Chasman, Daniel I; Cho, Yoon Shin; Heid, Iris M; McCarthy, Mark I; Ng, Maggie C Y; O'Donnell, Christopher J; Rivadeneira, Fernando; Thorsteinsdottir, Unnur; Sun, Yan V; Tai, E Shyong; Boehnke, Michael; Deloukas, Panos; Justice, Anne E; Lindgren, Cecilia M; Loos, Ruth J F; Mohlke, Karen L; North, Kari E; Stefansson, Kari; Walters, Robin G; Winkler, Thomas W; Young, Kristin L; Loh, Po-Ru; Yang, Jian; Esko, Tõnu; Assimes, Themistocles L; Auton, Adam; Abecasis, Goncalo R; Willer, Cristen J; Locke, Adam E; Berndt, Sonja I; Lettre, Guillaume; Frayling, Timothy M; Okada, Yukinori; Wood, Andrew R; Visscher, Peter M; Hirschhorn, Joel N

Downregulation of ribosome biogenesis during early forebrain development

前脑早期发育过程中核糖体生物合成的下调

Kevin F Chau ,Morgan L Shannon ,Ryann M Fame ,Erin Fonseca ,Hillary Mullan ,Matthew B Johnson ,Anoop K Sendamarai ,Mark W Springel ,Benoit Laurent ,Maria K Lehtinen

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

对骨髓移植无反应的骨髓衰竭是由血小板生成素突变引起的

Aaron Seo, Miri Ben-Harosh, Mehtap Sirin, Jerry Stein, Orly Dgany, Joseph Kaplelushnik, Manfred Hoenig, Ulrich Pannicke, Myriam Lorenz, Klaus Schwarz, Clemens Stockklausner, Tom Walsh, Suleyman Gulsuner, Ming K Lee, Anoop Sendamarai, Marilyn Sanchez-Bonilla, Mary-Claire King, Holger Cario, Andreas E

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

呼吸链复合物 1 蛋白 NDUFB11 的一个反复出现的突变是导致一种新型 X 连锁铁粒幼细胞性贫血的原因。

Lichtenstein, Daniel A; Crispin, Andrew W; Sendamarai, Anoop K; Campagna, Dean R; Schmitz-Abe, Klaus; Sousa, Cristovao M; Kafina, Martin D; Schmidt, Paul J; Niemeyer, Charlotte M; Porter, John; May, Alison; Patnaik, Mrinal M; Heeney, Matthew M; Kimmelman, Alec; Bottomley, Sylvia S; Paw, Barry H; Markianos, Kyriacos; Fleming, Mark D

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

假尿苷合成酶1缺陷小鼠(一种线粒体肌病伴铁粒幼细胞性贫血的模型)表现出肌肉形态和生理改变。

Joshua E Mangum ,Justin P Hardee ,Dennis K Fix ,Melissa J Puppa ,Johnathon Elkes ,Diego Altomare ,Yelena Bykhovskaya ,Dean R Campagna ,Paul J Schmidt ,Anoop K Sendamarai ,Hart G W Lidov ,Shayne C Barlow ,Nathan Fischel-Ghodsian ,Mark D Fleming ,James A Carson ,Jeffrey R Patton