未登录Depleted hexokinase1 and lack of AMPKα activation favor OXPHOS-dependent energetics in retinoblastoma tumors
Babu, Vishnu Suresh; Mallipatna, Ashwin; Dudeja, Gagan; Shetty, Rohit; Nair, Archana Padmanabhan; Tun, Sai Bo Bo; Ho, Candice Ee Hua; Chaurasia, Shyam S.; Bhattacharya, Shomi S.; Verma, Navin Kumar; Lakshminarayanan, Rajamani; Guha, Nilanjan; Heymans, Stephane; Barathi, Veluchamy Amutha; Ghosh, Arkasubhra .png)
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收藏Mutations in SPATA13/ASEF2 cause primary angle closure glaucomaWaseem, Naushin H.; Low, Sancy; Shah, Amna Z.; Avisetti, Deepa; Ostergaard, Pia; Simpson, Michael; Niemiec, Katarzyna A.; Martin-Martin, Belen; Aldehlawi, Hebah; Usman, Saima; Lee, Pak Sang; Khawaja, Anthony P.; Ruddle, Jonathan B.; Shah, Ameet; Sackey, Ege; Day, Alexander; Jiang, Yuzhen; Swinfield, Geoff; Viswanathan, Ananth; Alfano, Giovanna; Chakarova, Christina; Cordell, Heather J.; Garway-Heath, David F.; Khaw, Peng T.; Bhattacharya, Shomi S.; Waseem, Ahmad; Foster, Paul J. 分享 收藏 Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and HumansKnopfel, Emilia Boiadjieva; Vilches, Clara; Camargo, Simone M. R.; Errasti-Murugarren, Ekaitz; Staubli, Andrina; Mayayo, Clara; Munier, Francis L.; Miroshnikova, Nataliya; Poncet, Nadege; Junza, Alexandra; Bhattacharya, Shomi S.; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T.; Yanes, Oscar; Nunes, Virginia; Palacin, Manuel; Verrey, Francois; Kloeckener-Gruissem, Barbara 分享 收藏 Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration: The EYE-RISK ConsortiumMerle, Benedicte M. J.; Colijn, Johanna M.; Cougnard-Gregoire, Audrey; de Koning-Backus, Alexandra P. M.; Delyfer, Marie-Noelle; Kiefte-de Jong, Jessica C.; Meester-Smoor, Magda; Feart, Catherine; Verzijden, Timo; Samieri, Cecilia; Franco, Oscar H.; Korobelnik, Jean-Francois; Klaver, Caroline C. W.; Delcourt, Cecile; Ajana, Soufiane; Arango-Gonzalez, Blanca; Armento, Angela; Arndt, Verena; Bhatia, Vaibhav; Bhattacharya, Shomi S.; Biarnes, Marc; Borrell, Anna; Buhren, Sebastian; Calado, Sofia M.; Dammeier, Sascha; de Jong, Eiko K.; De la Cerda, Berta; den Hollander, Anneke, I; Diaz-Corrales, Francisco J.; Diether, Sigrid; Emri, Eszter; Endermann, Tanja; Ferraro, Lucia L.; Garcia, Miriam; Heesterbeek, Thomas J.; Honisch, Sabina; Hoyng, Carel B.; Kersten, Eveline; Kilger, Ellen; Langen, Hanno; Lengyel, Imre; Luthert, Phil; Maugeais, Cyrille; Mones, Jordi; Nogoceke, Everson; Peto, Tunde; Pool, Frances M.; Rodriguez, Eduardo; Ueffing, Marius; Bartz-Schmidt, Karl U. Ulrich; van Leeuwen, Elisabeth M.; Zumbansen, Markus; Vasiliev, Vassil 分享 收藏 Highly Efficient Neural Conversion of Human Pluripotent Stem Cells in Adherent and Animal-Free ConditionsLukovic, Dunja; Diez Lloret, Andrea; Stojkovic, Petra; Rodriguez-Martinez, Daniel; Perez Arago, Maria Amparo; Javier Rodriguez-Jimenez, Francisco; Gonzalez-Rodriguez, Patricia; Lopez-Barneo, Jose; Sykova, Eva; Jendelova, Pavla; Kostic, Jelena; Moreno-Manzano, Victoria; Stojkovic, Miodrag; Bhattacharya, Shomi S.; Erceg, Slaven 分享 收藏 Effects of Ca2+ ions on bestrophin-1 surface filmsMladenova, Kirilka; Petrova, Svetla D.; Andreeva, Tonya D.; Moskova-Doumanova, Veselina; Topouzova-Hristova, Tanya; Kalvachev, Yuri; Balashev, Konstantin; Bhattacharya, Shomi S.; Chakarova, Christina; Lalchev, Zdravko; Doumanov, Jordan A. 分享 收藏 分享 收藏 A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degenerationBiswas, Pooja; Chavali, Venkata Ramana Murthy; Agnello, Giulia; Stone, Everett; Chakarova, Christina; Duncan, Jacque L.; Kannabiran, Chitra; Homsher, Melissa; Bhattacharya, Shomi S.; Naeem, Muhammad Asif; Kimchi, Adva; Sharon, Dror; Iwata, Takeshi; Riazuddin, Shaikh; Reddy, G. Bhanuprakash; Hejtmancik, J. Fielding; Georgiou, George; Riazuddin, S. Amer; Ayyagari, Radha 分享 收藏 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucomaKhor, Chiea Chuen; Do, Tan; Jia, Hongyan; Nakano, Masakazu; George, Ronnie; Abu-Amero, Khaled; Duvesh, Roopam; Chen, Li Jia; Li, Zheng; Nongpiur, Monisha E.; Perera, Shamira A.; Qiao, Chunyan; Wong, Hon-Tym; Sakai, Hiroshi; de Melo, Monica Barbosa; Lee, Mei-Chin; Chan, Anita S.; Azhany, Yaakub; Dao, Thi Lam Huong; Ikeda, Yoko; Perez-Grossmann, Rodolfo A.; Zarnowski, Tomasz; Day, Alexander C.; Jonas, Jost B.; Tam, Pancy O. S.; Tran, Tuan Anh; Ayub, Humaira; Akhtar, Farah; Micheal, Shazia; Chew, Paul T. K.; Aljasim, Leyla A.; Dada, Tanuj; Luu, Tam Thi; Awadalla, Mona S.; Kitnarong, Naris; Wanichwecharungruang, Boonsong; Aung, Yee Yee; Mohamed-Noor, Jelinar; Vijayan, Saravanan; Sarangapani, Sripriya; Husain, Rahat; Jap, Aliza; Baskaran, Mani; Goh, David; Su, Daniel H.; Wang, Huaizhou; Yong, Vernon K.; Yip, Leonard W.; Trinh, Tuyet Bach; Makornwattana, Manchima; Nguyen, Thanh Thu; Leuenberger, Edgar U.; Park, Ki-Ho; Wiyogo, Widya Artini; Kumar, Rajesh S.; Tello, Celso; Kurimoto, Yasuo; Thapa, Suman S.; Pathanapitoon, Kessara; Salmon, John F.; Sohn, Yong Ho; Fea, Antonio; Ozaki, Mineo; Lai, Jimmy S. M.; Tantisevi, Visanee; Khaing, Chaw Chaw; Mizoguchi, Takanori; Nakano, Satoko; Kim, Chan-Yun; Tang, Guangxian; Fan, Sujie; Wu, Renyi; Meng, Hailin; Thi Thuy Giang Nguyen; Tien Dat Tran; Ueno, Morio; Martinez, Jose Maria; Ramli, Norlina; Aung, Yin Mon; Reyes, Rigo Daniel; Vernon, Sephen A.; Fang, Seng Kheong; Xie, Zhicheng; Chen, Xiao Yin; Foo, Jia Nee; Sim, Kar Seng; Wong, Tina T.; Quek, Desmond T.; Venkatesh, Rengaraj; Kavitha, Srinivasan; Krishnadas, Subbiah R.; Soumittra, Nagaswamy; Shantha, Balekudaru; Lim, Boon-Ang; Ogle, Jeanne; de Vasconcellos, Jose P. C.; Costa, Vital P.; Abe, Ricardo Y.; de Souza, Bruno B.; Sng, Chelvin C.; Aquino, Maria C.; Kosior-Jarecka, Ewa; Fong, Guillermo Barreto; Tamanaja, Vania Castro; Fujita, Ricardo; Jiang, Yuzhen; Waseem, Naushin; Low, Sancy; Huan Nguyen Pham; Al-Shahwan, Sami; Craven, E. Randy; Khan, Muhammad Imran; Dada, Rrima; Mohanty, Kuldeep; Faiq, Muneeb A.; Hewitt, Alex W.; Burdon, Kathryn P.; Gan, Eng Hui; Prutthipongsit, Anuwat; Patthanathamrongkasem, Thipnapa; Catacutan, Mary Ann T.; Felarca, Irene R.; Liao, Chona S.; Rusmayani, Emma; Istiantoro, Vira Wardhana; Consolandi, Giulia; Pignata, Giulia; Lavia, Carlo; Rojanapongpun, Prin; Mangkornkanokpong, Lerprat; Chansangpetch, Sunee; Chan, Jonathan C. H.; Choy, Bonnie N. K.; Shum, Jennifer W. H.; Hlaing May Than; Oo, Khin Thida; Han, Aye Thi; Yong, Victor H.; Ng, Xiao-Yu; Goh, Shuang Ru; Chong, Yaan Fun; Hibberd, Martin L.; Seielstad, Mark; Png, Eileen; Dunstan, Sarah J.; Chau, Nguyen Van Vinh; Bei, Jinxin; Zeng, Yi Xin; Karkey, Abhilasha; Basnyat, Buddha; Pasutto, Francesca; Paoli, Daniela; Frezzotti, Paolo; Wang, Jie Jin; Mitchell, Paul; Fingert, John H.; Allingham, R. Rand; Hauser, Michael A.; Lim, Soon Thye; Chew, Soo Hong; Ebstein, Richard P.; Sakuntabhai, Anavaj; Park, Kyu Hyung; Ahn, Jeeyun; Boland, Greet; Snippe, Harm; Stead, Richard; Quino, Raquel; Zaw, Su Nyunt; Lukasik, Urszula; Shetty, Rohit; Zahari, Mimiwati; Bae, Hyoung Won; Oo, Nay Lin; Kubota, Toshiaki; Manassakorn, Anita; Ho, Wing Lau; Dallorto, Laura; Hwang, Young Hoon; Kiire, Christine A.; Kuroda, Masako; Djamal, Zeiras Eka; Peregrino, Jovell Ian M.; Ghosh, Arkasubhra; Jeoung, Jin Wook; Hoan, Tung S.; Srisamran, Nuttamon; Sandragasu, Thayanithi; Set, Saw Htoo; Doan, Vi Huyen; Bhattacharya, Shomi S.; Ho, Ching-Lin; Tan, Donald T.; Sihota, Ramanjit; Loon, Seng-Chee; Mori, Kazuhiko; Kinoshita, Shigeru; den Hollander, Anneke I.; Qamar, Raheel; Wang, Ya-Xing; Teo, Yik Y.; Tai, E-Shyong; Hartleben-Matkin, Curt; Lozano-Giral, David; Saw, Seang Mei; Cheng, Ching-Yu; Zenteno, Juan C.; Pang, Chi Pui; Bui, Huong T. T.; Hee, Owen; Craig, Jamie E.; Edward, Deepak P.; Yonahara, Michiko; Neto, Jamil Miguel; Guevara-Fujita, Maria L.; Xu, Liang; Ritch, Robert; Liza-Sharmini, Ahmad Tajudin; Wong, Tien Y.; Al-Obeidan, Saleh; Do, Nhu Hon; Sundaresan, Periasamy; Tham, Clement C.; Foster, Paul J.; Vijaya, Lingam; Tashiro, Kei; Vithana, Eranga N.; Wang, Ningli; Aung, Tin 分享 收藏 分享 收藏 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquin; Amadoz, Alicia; Bleda, Marta; Garcia-Alonso, Luz; Aleman, Alejandro; Garcia-Garcia, Francisco; Rodriguez, Juan A.; Daub, Josephine T.; Muntane, Gerard; Rueda, Antonio; Vela-Boza, Alicia; Lopez-Domingo, Francisco J.; Florido, Javier P.; Arce, Pablo; Ruiz-Ferrer, Macarena; Mendez-Vidal, Cristina; Arnold, Todd E.; Spleiss, Olivia; Alvarez-Tejado, Miguel; Navarro, Arcadi; Bhattacharya, Shomi S.; Borrego, Salud; Santoyo-Lopez, Javier; Antinolo, Guillermo 分享 收藏 Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population加拿大法国创始人常染色体显性视网膜色素变性 (adRP) 的基因型和表型研究Coussa, Razek Georges; Chakarova, Christina; Ajlan, Radwan; Taha, Mohammed; Kavalec, Conrad; Gomolin, Julius; Khan, Ayesha; Lopez, Irma; Ren, Huanan; Waseem, Naushin; Kamenarova, Kunka; Bhattacharya, Shomi S.; Koenekoop, Robert K. 分享 收藏 Human iPSC derived disease model of MERTK-associated retinitis pigmentosa人类iPSC衍生的MERTK相关色素性视网膜炎疾病模型Lukovic, Dunja; Artero Castro, Ana; Garcia Delgado, Ana Belen; Martin Bernal, Maria de los Angeles; Luna Pelaez, Noelia; Diez Lloret, Andrea; Perez Espejo, Rocio; Kamenarova, Kunka; Fernandez Sanchez, Laura; Cuenca, Nicolas; Corton, Marta; Avila Fernandez, Almudena; Sorkio, Anni; Skottman, Heli; Ayuso, Carmen; Erceg, Slaven; Bhattacharya, Shomi S. 分享 收藏 分享 收藏 分享 收藏 Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degenerationRatnapriya, Rinki; Zhan, Xiaowei; Fariss, Robert N.; Branham, Kari E.; Zipprer, David; Chakarova, Christina F.; Sergeev, Yuri V.; Campos, Maria M.; Othman, Mohammad; Friedman, James S.; Maminishkis, Arvydas; Waseem, Naushin H.; Brooks, Matthew; Rajasimha, Harsha K.; Edwards, Albert O.; Lotery, Andrew; Klein, Barbara E.; Truitt, Barbara J.; Li, Bingshan; Schaumberg, Debra A.; Morgan, Denise J.; Morrison, Margaux A.; Souied, Eric; Tsironi, Evangelia E.; Grassmann, Felix; Fishman, Gerald A.; Silvestri, Giuliana; Scholl, Hendrik P. N.; Kim, Ivana K.; Ramke, Jacqueline; Tuo, Jingsheng; Merriam, Joanna E.; Merriam, John C.; Park, Kyu Hyung; Olson, Lana M.; Farrer, Lindsay A.; Johnson, Matthew P.; Peachey, Neal S.; Lathrop, Mark; Baron, Robert V.; Igo, Robert P., Jr.; Klein, Ronald; Hagstrom, Stephanie A.; Kamatani, Yoichiro; Martin, Tammy M.; Jiang, Yingda; Conley, Yvette; Sahel, Jose-Alan; Zack, Donald J.; Chan, Chi-Chao; Pericak-Vance, Margaret A.; Jacobson, Samuel G.; Gorin, Michael B.; Klein, Michael L.; Allikmets, Rando; Iyengar, Sudha K.; Weber, Bernhard H.; Haines, Jonathan L.; Leveillard, Thierry; Deangelis, Margaret M.; Stambolian, Dwight; Weeks, Daniel E.; Bhattacharya, Shomi S.; Chew, Emily Y.; Heckenlively, John R.; Abecasis, Goncalo R.; Swaroop, Anand 分享 收藏 Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal DystrophySergouniotis, Panagiotis I.; Chakarova, Christina; Murphy, Cian; Becker, Mirjana; Lenassi, Eva; Arno, Gavin; Lek, Monkol; MacArthur, Daniel G.; Bhattacharya, Shomi S.; Moore, Anthony T.; Holder, Graham E.; Robson, Anthony G.; Wolfrum, Uwe; Webster, Andrew R.; Plagnol, Vincent 分享 收藏 ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure GlaucomaNongpiur, Monisha E.; Khor, Chiea Chuen; Jia, Hongyan; Cornes, Belinda K.; Chen, Li-Jia; Qiao, Chunyan; Nair, K. Saidas; Cheng, Ching-Yu; Xu, Liang; George, Ronnie; Do, Tan; Abu-Amero, Khaled; Perera, Shamira A.; Ozaki, Mineo; Mizoguchi, Takanori; Kurimoto, Yasuo; Low, Sancy; Tajudin, Liza-Sharmini A.; Ho, Ching-Lin; Tham, Clement C. Y.; Soto, Ileana; Chew, Paul T. K.; Wong, Hon-Tym; Shantha, Balekudaru; Kuroda, Masako; Osman, Essam A.; Tang, Guangxian; Fan, Sujie; Meng, Hailin; Wang, Hua; Feng, Bo; Yong, Victor H. K.; Ting, Serena M. L.; Li, Yang; Wang, Ya-Xing; Li, Zheng; Lavanya, Raghavan; Wu, Ren-Yi; Zheng, Ying-Feng; Su, Daniel H.; Loon, Seng-Chee; Allingham, R. Rand; Hauser, Michael A.; Soumittra, Nagaswamy; Ramprasad, Vedam L.; Waseem, Naushin; Yaakub, Azhany; Chia, Kee-Seng; Kumaramanickavel, Govindasamy; Wong, Tina T.; How, Alicia C.; Tran Nguyen Bich Chau; Simmons, Cameron P.; Bei, Jin-Xin; Zeng, Yi-Xin; Bhattacharya, Shomi S.; Zhang, Mingzhi; Tan, Donald T.; Teo, Yik-Ying; Al-Obeidan, Saleh A.; Do Nhu Hon; Tai, E-Shyong; Saw, Seang-Mei; Foster, Paul J.; Vijaya, Lingam; Jonas, Jost B.; Wong, Tien-Yin; John, Simon W. M.; Pang, Chi-Pui; Vithana, Eranga N.; Wang, Ningli; Aung, Tin 分享 收藏 分享 收藏 Further Insights Into GPR179: Expression, Localization, and Associated Pathogenic Mechanisms Leading to Complete Congenital Stationary Night BlindnessOrhan, Elise; Prezeau, Laurent; El Shamieh, Said; Bujakowska, Kinga M.; Michiels, Christelle; Zagar, Yvrick; Vol, Claire; Bhattacharya, Shomi S.; Sahel, Jose-Alain; Sennlaub, Florian; Audo, Isabelle; Zeitz, Christina 分享 收藏 
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