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

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

利用基因编辑治疗由C1QTNF5基因创始变异引起的迟发性视网膜变性

Li, Randa T H; Roman, Alejandro J; Sumaroka, Alexander; Stanton, Chloe M; Swider, Malgorzata; Garafalo, Alexandra V; Heon, Elise; Vincent, Ajoy; Wright, Alan F; Megaw, Roly; Aleman, Tomas S; Browning, Andrew C; Dhillon, Baljean; Cideciyan, Artur V

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

Usher综合征IIA型患者中发现新的双等位基因USH2A变异——病例报告

Young, Su Ling; Stanton, Chloe M; Livesey, Benjamin J; Marsh, Joseph A; Cackett, Peter D

Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.

免疫球蛋白 G 的糖基化受一个庞大的基因网络调控,该网络与炎症性疾病具有多效性

Klarić Lucija, Tsepilov Yakov A, Stanton Chloe M, Mangino Massimo, Sikka Timo Tõnis, Esko Tõnu, Pakhomov Eugene, Salo Perttu, Deelen Joris, McGurnaghan Stuart J, Keser Toma, Vučković Frano, Ugrina Ivo, Krištić Jasminka, Gudelj Ivan, Štambuk Jerko, Plomp Rosina, Pučić-Baković Maja, Pavić Tamara, Vilaj Marija, Trbojević-Akmačić Irena, Drake Camilla, Dobrinić Paula, Mlinarec Jelena, Jelušić Barbara, Richmond Anne, Timofeeva Maria, Grishchenko Alexander K, Dmitrieva Julia, Bermingham Mairead L, Sharapov Sodbo Zh, Farrington Susan M, Theodoratou Evropi, Uh Hae-Won, Beekman Marian, Slagboom Eline P, Louis Edouard, Georges Michel, Wuhrer Manfred, Colhoun Helen M, Dunlop Malcolm G, Perola Markus, Fischer Krista, Polasek Ozren, Campbell Harry, Rudan Igor, Wilson James F, Zoldoš Vlatka, Vitart Veronique, Spector Tim, Aulchenko Yurii S, Lauc Gordan, Hayward Caroline

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

C1QTNF5 基因中发现的新型致病突变支持晚发性视网膜变性中显性负性致病机制。

Stanton, Chloe M; Borooah, Shyamanga; Drake, Camilla; Marsh, Joseph A; Campbell, Susan; Lennon, Alan; Soares, Dinesh C; Vallabh, Neeru A; Sahni, Jayashree; Cideciyan, Artur V; Dhillon, Baljean; Vitart, Veronique; Jacobson, Samuel G; Wright, Alan F; Hayward, Caroline

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

一项针对年龄相关性黄斑变性的大型全基因组关联研究突显了罕见和常见变异的作用。

Fritsche, Lars G; Igl, Wilmar; Bailey, Jessica N Cooke; Grassmann, Felix; Sengupta, Sebanti; Bragg-Gresham, Jennifer L; Burdon, Kathryn P; Hebbring, Scott J; Wen, Cindy; Gorski, Mathias; Kim, Ivana K; Cho, David; Zack, Donald; Souied, Eric; Scholl, Hendrik P N; Bala, Elisa; Lee, Kristine E; Hunter, David J; Sardell, Rebecca J; Mitchell, Paul; Merriam, Joanna E; Cipriani, Valentina; Hoffman, Joshua D; Schick, Tina; Lechanteur, Yara T E; Guymer, Robyn H; Johnson, Matthew P; Jiang, Yingda; Stanton, Chloe M; Buitendijk, Gabriëlle H S; Zhan, Xiaowei; Kwong, Alan M; Boleda, Alexis; Brooks, Matthew; Gieser, Linn; Ratnapriya, Rinki; Branham, Kari E; Foerster, Johanna R; Heckenlively, John R; Othman, Mohammad I; Vote, Brendan J; Liang, Helena Hai; Souzeau, Emmanuelle; McAllister, Ian L; Isaacs, Timothy; Hall, Janette; Lake, Stewart; Mackey, David A; Constable, Ian J; Craig, Jamie E; Kitchner, Terrie E; Yang, Zhenglin; Su, Zhiguang; Luo, Hongrong; Chen, Daniel; Ouyang, Hong; Flagg, Ken; Lin, Danni; Mao, Guanping; Ferreyra, Henry; Stark, Klaus; von Strachwitz, Claudia N; Wolf, Armin; Brandl, Caroline; Rudolph, Guenther; Olden, Matthias; Morrison, Margaux A; Morgan, Denise J; Schu, Matthew; Ahn, Jeeyun; Silvestri, Giuliana; Tsironi, Evangelia E; Park, Kyu Hyung; Farrer, Lindsay A; Orlin, Anton; Brucker, Alexander; Li, Mingyao; Curcio, Christine A; Mohand-Saïd, Saddek; Sahel, José-Alain; Audo, Isabelle; Benchaboune, Mustapha; Cree, Angela J; Rennie, Christina A; Goverdhan, Srinivas V; Grunin, Michelle; Hagbi-Levi, Shira; Campochiaro, Peter; Katsanis, Nicholas; Holz, Frank G; Blond, Frédéric; Blanché, Hélène; Deleuze, Jean-François; Igo, Robert P Jr; Truitt, Barbara; Peachey, Neal S; Meuer, Stacy M; Myers, Chelsea E; Moore, Emily L; Klein, Ronald; Hauser, Michael A; Postel, Eric A; Courtenay, Monique D; Schwartz, Stephen G; Kovach, Jaclyn L; Scott, William K; Liew, Gerald; Tan, Ava G; Gopinath, Bamini; Merriam, John C; Smith, R Theodore; Khan, Jane C; Shahid, Humma; Moore, Anthony T; McGrath, J Allie; Laux, Reneé; Brantley, Milam A Jr; Agarwal, Anita; Ersoy, Lebriz; Caramoy, Albert; Langmann, Thomas; Saksens, Nicole T M; de Jong, Eiko K; Hoyng, Carel B; Cain, Melinda S; Richardson, Andrea J; Martin, Tammy M; Blangero, John; Weeks, Daniel E; Dhillon, Bal; van Duijn, Cornelia M; Doheny, Kimberly F; Romm, Jane; Klaver, Caroline C W; Hayward, Caroline; Gorin, Michael B; Klein, Michael L; Baird, Paul N; den Hollander, Anneke I; Fauser, Sascha; Yates, John R W; Allikmets, Rando; Wang, Jie Jin; Schaumberg, Debra A; Klein, Barbara E K; Hagstrom, Stephanie A; Chowers, Itay; Lotery, Andrew J; Léveillard, Thierry; Zhang, Kang; Brilliant, Murray H; Hewitt, Alex W; Swaroop, Anand; Chew, Emily Y; Pericak-Vance, Margaret A; DeAngelis, Margaret; Stambolian, Dwight; Haines, Jonathan L; Iyengar, Sudha K; Weber, Bernhard H F; Abecasis, Gonçalo R; Heid, Iris M

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

遗传因素对血浆CFH和CFHR1浓度的影响及其在年龄相关性黄斑变性易感性中的作用

Ansari, Morad; McKeigue, Paul M; Skerka, Christine; Hayward, Caroline; Rudan, Igor; Vitart, Veronique; Polasek, Ozren; Armbrecht, Ana-Maria; Yates, John R W; Vatavuk, Zoran; Bencic, Goran; Kolcic, Ivana; Oostra, Ben A; Van Duijn, Cornelia M; Campbell, Susan; Stanton, Chloe M; Huffman, Jennifer; Shu, Xinhua; Khan, Jane C; Shahid, Humma; Harding, Simon P; Bishop, Paul N; Deary, Ian J; Moore, Anthony T; Dhillon, Baljean; Rudan, Pavao; Zipfel, Peter F; Sim, Robert B; Hastie, Nicholas D; Campbell, Harry; Wright, Alan F

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

补体调节因子的遗传变异与年龄相关性黄斑变性的易感性

Cipriani, Valentina; Matharu, Baljinder K; Khan, Jane C; Shahid, Humma; Stanton, Chloe M; Hayward, Caroline; Wright, Alan F; Bunce, Catey; Clayton, David G; Moore, Anthony T; Yates, John R W

Complement factor D in age-related macular degeneration.

补体因子D在年龄相关性黄斑变性中的作用

Stanton Chloe M, Yates John R W, den Hollander Anneke I, Seddon Johanna M, Swaroop Anand, Stambolian Dwight, Fauser Sascha, Hoyng Carel, Yu Yi, Atsuhiro Kanda, Branham Kari, Othman Mohammad, Chen Wei, Kortvely Elod, Chalmers Kevin, Hayward Caroline, Moore Anthony T, Dhillon Baljean, Ueffing Marius, Wright Alan F

Editing independent effects of ADARs on the miRNA/siRNA pathways

编辑ADARs对miRNA/siRNA通路独立影响

Heale, Bret S E; Keegan, Liam P; McGurk, Leeanne; Michlewski, Gracjan; Brindle, James; Stanton, Chloe M; Caceres, Javier F; O'Connell, Mary A