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Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline Wopperer, Florian J.; Olinger, Eric; Wiesener, Antje; Broeker, Katharina A. E.; Knaup, Karl X.; Schaefer, Jan T.; Galiano, Matthias; Schneider, Karen; Schiffer, Mario; Buettner-Herold, Maike; Reis, Andre; Schmieder, Roland; Pasutto, Francesca; Hilgers, Karl F.; Poglitsch, Marko; Ziegler, Christine; Shoemaker, Robin; Sayer, John A.; Wiesener, Michael S. 分享 收藏
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci 大规模多性状全基因组关联分析确定了数百个青光眼风险位点 Han, Xikun; Gharahkhani, Puya; Hamel, Andrew R.; Ong, Jue Sheng; Renteria, Miguel E.; Mehta, Puja; Dong, Xianjun; Pasutto, Francesca; Hammond, Christopher; Young, Terri L.; Hysi, Pirro; Lotery, Andrew J.; Jorgenson, Eric; Choquet, Helene; Hauser, Michael; Bailey, Jessica Cooke N.; Nakazawa, Toru; Akiyama, Masato; Shiga, Yukihiro; Fuller, Zachary L.; Wang, Xin; Hewitt, Alex W.; Craig, Jamie E.; Pasquale, Louis R.; Mackey, David A.; Wiggs, Janey L.; Khawaja, Anthony P.; Segre, Ayellet, V; MacGregor, Stuart 分享 收藏
Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome 对遗传决定的基因表达的分析表明炎症过程在剥脱综合征中的作用 Hirbo, Jibril B.; Pasutto, Francesca; Gamazon, Eric R.; Evans, Patrick; Pawar, Priyanka; Berner, Daniel; Sealock, Julia; Tao, Ran; Straub, Peter S.; Konkashbaev, Anuar I.; Breyer, Max A.; Schloetzer-Schrehardt, Ursula; Reis, Andre; Brantley Jr, Milam A.; Khor, Chiea C.; Joos, Karen M.; Cox, Nancy J. 分享 收藏
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel 肌球蛋白ACMG/AMP变异治疗指南的规格: clingen青光眼专家小组的建议 Burdon, Kathryn P.; Graham, Patricia; Hadler, Johanna; Hulleman, John D.; Pasutto, Francesca; Boese, Erin A.; Craig, Jamie E.; Fingert, John H.; Hewitt, Alex W.; Siggs, Owen M.; Whisenhunt, Kristina; Young, Terri L.; Mackey, David A.; Dubowsky, Andrew; Souzeau, Emmanuelle 分享 收藏
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases Wopperer, Florian J.; Knaup, Karl X.; Stanzick, Kira J.; Schneider, Karen; Jobst-Schwan, Tilman; Ekici, Arif B.; Uebe, Steffen; Wenzel, Andrea; Schliep, Stefan; Schuerfeld, Carsten; Seitz, Randolf; Bernhardt, Wanja; Goedel, Markus; Wiesener, Antje; Popp, Bernt; Stark, Klaus J.; Groene, Hermann-Josef; Friedrich, Bjoern; Weiss, Martin; Basic-Jukic, Nikolina; Schiffer, Mario; Schroeppel, Bernd; Huettel, Bruno; Beck, Bodo B.; Sayer, John A.; Ziegler, Christine; Buettner-Herold, Maike; Amann, Kerstin; Heid, Iris M.; Reis, Andre; Pasutto, Francesca; Wiesener, Michael S. 分享 收藏
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Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye 罕见的CYP39A1变异体与涉及眼睛前房的剥脱综合征的关联 Li, Zheng; Wang, Zhenxun; Lee, Mei Chin; Zenkel, Matthias; Peh, Esther; Ozaki, Mineo; Topouzis, Fotis; Nakano, Satoko; Chan, Anita; Chen, Shuwen; Williams, Susan E. I.; Orr, Andrew; Nakano, Masakazu; Kobakhidze, Nino; Zarnowski, Tomasz; Popa-Cherecheanu, Alina; Mizoguchi, Takanori; Manabe, Shin-ichi; Hayashi, Ken; Kazama, Shigeyasu; Inoue, Kenji; Mori, Yosai; Miyata, Kazunori; Sugiyama, Kazuhisa; Higashide, Tomomi; Chihara, Etsuo; Ideta, Ryuichi; Ishiko, Satoshi; Yoshida, Akitoshi; Tokumo, Kana; Kiuchi, Yoshiaki; Ohashi, Tsutomu; Sakurai, Toshiya; Sugimoto, Takako; Chuman, Hideki; Aihara, Makoto; Inatani, Masaru; Mori, Kazuhiko; Ikeda, Yoko; Ueno, Morio; Gaston, Daniel; Rafuse, Paul; Shuba, Lesya; Saunders, Joseph; Nicolela, Marcelo; Chichua, George; Tabagari, Sergo; Founti, Panayiota; Sim, Kar Seng; Meah, Wee Yang; Soo, Hui Meng; Chen, Xiao Yin; Chatzikyriakidou, Anthi; Keskini, Christina; Pappas, Theofanis; Anastasopoulos, Eleftherios; Lambropoulos, Alexandros; Panagiotou, Evangelia S.; Mikropoulos, Dimitrios G.; Kosior-Jarecka, Ewa; Cheong, Augustine; Li, Yuanhan; Lukasik, Urszula; Nongpiur, Monisha E.; Husain, Rahat; Perera, Shamira A.; Alvarez, Lydia; Garcia, Montserrat; Gonzalez-Iglesias, Hector; Cueto, Andres F. V.; Cueto, Luis F. V.; Martinon-Torres, Federico; Salas, Antonio; Oguz, Cilingir; Tamcelik, Nevbahar; Atalay, Eray; Batu, Bilge; Irkec, Murat; Aktas, Dilek; Kasim, Burcu; Astakhov, Yury S.; Astakhov, Sergei Y.; Akopov, Eugeny L.; Giessl, Andreas; Mardin, Christian; Hellerbrand, Claus; Bailey, Jessica N. Cooke; Igo, Robert P., Jr.; Haines, Jonathan L.; Edward, Deepak P.; Heegaard, Steffen; Davila, Sonia; Tan, Patrick; Kang, Jae H.; Pasquale, Louis R.; Kruse, Friedrich E.; Reis, Andre; Carmichael, Trevor R.; Hauser, Michael; Ramsay, Michele; Mossbock, Georg; Yildirim, Nilgun; Tashiro, Kei; Konstas, Anastasios G. P.; Coca-Prados, Miguel; Foo, Jia Nee; Kinoshita, Shigeru; Sotozono, Chie; Kubota, Toshiaki; Dubina, Michael; Ritch, Robert; Wiggs, Janey L.; Pasutto, Francesca; Schloetzer-Schrehardt, Ursula; Ho, Ying Swan; Aung, Tin; Tam, Wai Leong; Khor, Chiea Chuen 分享 收藏
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression 青光眼的多性状分析确定了新的风险位点，并实现了疾病易感性和进展的多基因预测 Craig, Jamie E.; Han, Xikun; Qassim, Ayub; Hassall, Mark; Bailey, Jessica N. Cooke; Kinzy, Tyler G.; Khawaja, Anthony P.; An, Jiyuan; Marshall, Henry; Gharahkhani, Puya; Igo, Robert P., Jr.; Graham, Stuart L.; Healey, Paul R.; Ong, Jue-Sheng; Zhou, Tiger; Siggs, Owen; Law, Matthew H.; Souzeau, Emmanuelle; Ridge, Bronwyn; Hysi, Pirro G.; Burdon, Kathryn P.; Mills, Richard A.; Landers, John; Ruddle, Jonathan B.; Agar, Ashish; Galanopoulos, Anna; White, Andrew J. R.; Willoughby, Colin E.; Andrew, Nicholas H.; Best, Stephen; Vincent, Andrea L.; Goldberg, Ivan; Radford-Smith, Graham; Martin, Nicholas G.; Montgomery, Grant W.; Vitart, Veronique; Hoehn, Rene; Wojciechowski, Robert; Jonas, Jost B.; Aung, Tin; Pasquale, Louis R.; Cree, Angela Jane; Sivaprasad, Sobha; Vallabh, Neeru A.; Viswanathan, Ananth C.; Pasutto, Francesca; Haines, Jonathan L.; Klaver, Caroline C. W.; van Duijn, Cornelia M.; Casson, Robert J.; Foster, Paul J.; Khaw, Peng Tee; Hammond, Christopher J.; Mackey, David A.; Mitchell, Paul; Lotery, Andrew J.; Wiggs, Janey L.; Hewitt, Alex W.; MacGregor, Stuart 分享 收藏
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Multi-trait genome-wide association study identifies new loci associated with optic disc parameters 多性状全基因组关联研究确定与视盘参数相关的新基因座 Bonnemaijer, Pieter W. M.; van Leeuwen, Elisabeth M.; Iglesias, Adriana I.; Gharahkhani, Puya; Vitart, Veronique; Khawaja, Anthony P.; Simcoe, Mark; Hoehn, Rene; Cree, Angela J.; Igo, Rob P.; Burdon, Kathryn P.; Craig, Jamie E.; Hewitt, Alex W.; Jonas, Jost; Khor, Chiea-Cheun; Pasutto, Francesca; Mackey, David A.; Mitchell, Paul; Mishra, Aniket; Pang, Calvin; Pasquale, Louis R.; Springelkamp, Henriette; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Viswanathan, Ananth C.; Wojciechowski, Robert; Wong, Tien; Young, Terrri L.; Zeller, Tanja; Atan, Denize; Aslam, Tariq; Barman, Sarah A.; Barrett, Jenny H.; Bishop, Paul; Blows, Peter; Bunce, Catey; Carare, Roxana O.; Chakravarthy, Usha; Chan, Michelle; Chua, Sharon Y. L.; Crabb, David P.; Cumberland, Philippa M.; Day, Alexander; Desai, Parul; Dhillon, Bal; Dick, Andrew D.; Egan, Cathy; Ennis, Sarah; Foster, Paul; Fruttiger, Marcus; Gallacher, John E. J.; Garway, David F.; Gibson, Jane; Gore, Dan; Guggenheim, Jeremy A.; Hardcastle, Alison; Harding, Simon P.; Hogg, Ruth E.; Keane, Pearse A.; Khaw, Peng T.; Lascaratos, Gerassimos; Macgillivray, Tom; Mackie, Sarah; Martin, Keith; McGaughey, Michelle; McGuinness, Bernadette; Mckay, Gareth J.; McKibbin, Martin; Mitry, Danny; Moore, Tony; Morgan, James E.; Muthy, Zaynah A.; O'Sullivan, Eoin; Owen, Chris G.; Patel, Praveen; Paterson, Euan; Peto, Tunde; Petzold, Axel; Rahi, Jugnoo S.; Rudnikca, Alicja R.; Self, Jay; Sivaprasad, Sobha; Steel, David; Stratton, Irene; Strouthidis, Nicholas; Sudlow, Cathie; Thomas, Dhanes; Trucco, Emanuele; Tufail, Adnan; Vernon, Stephen A.; Viswanathan, Ananth C.; Williams, Cathy; Williams, Katie; Woodside, Jayne V.; Yates, Max M.; Yip, Jennifer; Zheng, Yalin; Allingham, Rand; Budenz, Don; Bailey, Jessica Cooke; Fingert, John; Gaasterland, Douglas; Gaasterland, Teresa; Haines, Jonathan L.; Hark, Lisa; Hauser, Michael; Kang, Jae Hee; Kraft, Peter; Lee, Richard; Lichter, Paul; Liu, Yutao; Moroi, Syoko; Pasquale, Louis R.; Pericak, Margaret; Realini, Anthony; Rhee, Doug; Richards, Julia R.; Ritch, Robert; Scott, William K.; Singh, Kuldev; Sit, Arthur; Vollrath, Douglas; Weinreb, Robert; Wollstein, Gadi; Wilmer, Don Zack; Gerhold-Ay, Aslihan; Nickels, Stefan; Wilson, James F.; Hayward, Caroline; Boutin, Thibaud S.; Polasek, Ozren; Aung, Tin; Khor, Chiea Chuen; Amin, Najaf; Lotery, Andrew J.; Wiggs, Janey L.; Cheng, Ching-Yu; Hysi, Pirro G.; Hammond, Christopher J.; Thiadens, Alberta A. H. J.; MacGregor, Stuart; Klaver, Caroline C. W.; van Duijn, Cornelia M. 分享 收藏
Mutant RAMP2 causes primary openl-angle glaucoma via the CRLR-cAMP axis Gong, Bo; Zhang, Houbin; Huang, Lulin; Chen, Yuhong; Shi, Yi; Tam, Pancy Oi-Sin; Zhu, Xianjun; Huang, Yi; Lei, Bo; Sundaresan, Periasamy; Li, Xi; Jiang, Linxin; Yang, Jialiang; Lin, Ying; Lu, Fang; Chen, Lijia; Li, Yuanfeng; Leung, Christopher Kai-Shun; Guo, Xiaoxin; Zhang, Shanshan; Huang, Guo; Wu, Yaqi; Zhou, Tongdan; Shuai, Ping; Chee-Yung, Clement; Weisschuh, Nicole; Krishnadas, Subbaiah Ramasamy; Mardin, Christian; Reis, Andre; Yang, Jiyun; Zhang, Lin; Zhou, Yu; Wang, Ziyan; Qu, Chao; Shaw, Peter X.; Pang, Chi-Pui; Sun, Xinghuai; Zhu, Weiquan; Yaw, Dean; Pasutto, Francesca; Yang, Zhenglin 分享 收藏
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The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome Berner, Daniel; Hoja, Ursula; Zenkel, Matthias; Ross, James Julian; Uebe, Steffen; Paoli, Daniela; Frezzotti, Paolo; Rautenbach, Robyn M.; Ziskind, Ari; Williams, Susan E.; Carmichael, Trevor R.; Ramsay, Michele; Topouzis, Fotis; Chatzikyriakidou, Anthi; Lambropoulos, Alexandros; Sundaresan, Periasamy; Ayub, Humaira; Akhtar, Farah; Qamar, Raheel; Zenteno, Juan C.; Cruz-Aguilar, Marisa; Astakhov, Yury S.; Dubina, Michael; Wiggs, Janey; Ozaki, Mineo; Kruse, Friedrich E.; Aung, Tin; Reis, Andre; Khor, Chiea Chuen; Pasutto, Francesca; Schlotzer-Schrehardt, Ursula 分享 收藏
Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response Berner, Daniel; Zenkel, Matthias; Pasutto, Francesca; Hoja, Ursula; Liravi, Panah; Gusek-Schneider, Gabriele C.; Kruse, Friedrich E.; Schoedel, Johannes; Reis, Andre; Schloetzer-Schrehardt, Ursula 分享 收藏
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