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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

CoREST complex inhibition alters RNA splicing to promote neoantigen expression and enhance tumor immunity

CoREST复合物抑制通过改变RNA剪接促进新抗原表达并增强肿瘤免疫力

Fisher, Robert J; Park, Kihyun; Lee, Kwangwoon; Pinjusic, Katarina; Vanasse, Allison; Ennis, Christina S; Farokh, Parisa; Ficaro, Scott B; Marto, Jarrod A; Jiang, Hanjie; Nam, Eunju; Stransky, Stephanie; Duke-Cohan, Joseph; Akinci, Melis A; Geethadevi, Anupa; Raabe, Eric; Fiszbein, Ana; Demehri, Shadmehr; Sidoli, Simone; Hicks, Chad W; Keskin, Derin B; Wu, Catherine J; Cole, Philip A; Alani, Rhoda M

Natalia Evgenievna Belyaeva (1945–2025)

纳塔利娅·叶夫根尼耶夫娜·别利亚耶娃 (1945–2025)

Govindjee, G; Sharkey, T D; Melis, A; Govindjee, G; Malkin, R; Ogawa, T; Rubin, AB; Riznichenko, GYU

Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis

重度囊性纤维化肝病中的遗传变异与疾病发病机制的新机制相关

Stonebraker, Jaclyn R; Pace, Rhonda G; Gallins, Paul J; Dang, Hong; Aksit, Melis A; Faino, Anna V; Gordon, William W; MacParland, Sonya; Bamshad, Michael J; Gibson, Ronald L; Cutting, Garry R; Durie, Peter R; Wright, Fred A; Zhou, Yi-Hui; Blackman, Scott M; O'Neal, Wanda K; Ling, Simon C; Knowles, Michael R

Genetic modifiers of body mass index in individuals with cystic fibrosis

囊性纤维化患者体重指数的遗传修饰因素

Ling, Hua; Raraigh, Karen S; Pugh, Elizabeth W; Aksit, Melis A; Zhang, Peng; Pace, Rhonda G; Faino, Anna V; Bamshad, Michael J; Gibson, Ronald L; O'Neal, Wanda; Knowles, Michael R; Blackman, Scott M; Cutting, Garry R

Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor

抑制未来活跃 X 染色体上的 XIST 基因:在人类和牛的植入前胚胎中寻找阻遏物

Aksit, Melis A; Yu, Bo; Roelen, Bernard A J; Migeon, Barbara R

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

携带变异 p.Phe312del 的 CFTR 表现出与表型不一致的功能,且对 ivacaftor 的反应可忽略不计

Karen S Raraigh, Kathleen C Paul, Jennifer L Goralski, Erin N Worthington, Anna V Faino, Stanley Sciortino, Yiting Wang, Melis A Aksit, Hua Ling, Derek L Osorio, Frankline M Onchiri, Shivani U Patel, Christian A Merlo, Kristina Montemayor, Ronald L Gibson, Natalie E West, Amita Thakerar, Robert J Br

Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis

囊性纤维化跨膜传导调节因子功能,而非TAS2R38基因单倍型,可预测患有囊性纤维化的儿童和青少年是否需要进行鼻窦手术

Dalesio, Nicholas M; Aksit, Melis A; Ahn, Kwangmi; Raraigh, Karen S; Collaco, Joseph M; McGrath-Morrow, Sharon; Zeitlin, Pamela L; An, Steven S; Cutting, Garry R

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

评估外显子和内含子变异对 RNA 剪接的影响,可以准确评估精准治疗的有效性

Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

利用 CFTR 无义和移码变异的异质性效应来指导囊性纤维化的治疗策略

Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry