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

The E3-ome gene-centric compendium reveals the human E3 ligase landscape.

以 E3 连接酶组为中心的基因汇编揭示了人类 E3 连接酶的全貌。

Chua Ngee Kiat, González-Robles Tania J, Reddington Cameron J, Dudley-Fraser Jane, Birkinshaw Richard W, Han Jiru, Solano Ashleigh, Wong Soon Wei, Kochańczyk Tomasz, Peter Joshua J, Nakasone Mark A, Aust Florian, Munro Jacob, Tong Yeh Huei, Iskander Julie, Abeysekera Waruni, Garnham Alex, Huckstep Hannah, Ritchie Matthew E, Wertz Ingrid, Hymowitz Sarah, Kumar Sharad, Conaway Ron C, Privé Gilbert G, Bullock Alex N, Babon Jeffrey J, Klevit Rachel E, Lorenz Sonja, Ciulli Alessio, Fischer Eric S, Thomä Nicolas H, Nowak Radosław P, Schulman Brenda A, Rapé Michael, Rittinger Katrin, Pagan Julia K, Bahlo Melanie, Mackay Joel P, Mace Peter D, Lima Christopher D, Hay Ronald T, Komander David, Lechtenberg Bernhard C, Joazeiro Claudio A P, Pagano Michele, Hofmann Kay, Feltham Rebecca

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Distinct spatial organization governs oral mucosal immunity.

独特的空间组织结构支配着口腔黏膜免疫。

Theofilou Vasileios I, Fraser David, Kanasi Eleni, Brenchley Laurie, Greenwell-Wild Teresa, Adade Emmanuel E, Valm Alex M, Douagi Iyadh, Belkaid Yasmine, Tran Duy T, Williams Drake W, Moutsopoulos Niki M

Clonal evolutionary analysis reveals patterns of malignant transformation of Intraductal Papillary Mucinous Neoplasms of the pancreas

克隆进化分析揭示了胰腺导管内乳头状黏液性肿瘤恶性转化的模式

Pea, Antonio; He, Xiaotong; Upstill-Goddard, Rosie; Luchini, Claudio; Schubert Santana, Leonor Patricia; Dreyer, Stephan; Duthie, Fraser; Jamieson, Nigel B; McKay, Colin J; Dickson, Euan J; Pulvirenti, Alessandra; Rebus, Selma; Piccoli, Paola; Sperandio, Nicola; Lawlor, Rita T; Milella, Michele; Froeling, Fieke E M; Salvia, Roberto; Scarpa, Aldo; Biankin, Andrew V; Wedge, David C; Chang, David K

Integrated multi-omic and symptom clustering reveals lower-gastrointestinal disorders of gut-brain interaction heterogeneity

整合多组学和症状聚类分析揭示了肠脑相互作用异质性的下消化道疾病

Dowrick, Jarrah M; Roy, Nicole C; Carco, Caterina; James, Shanalee C; Heenan, Phoebe E; Frampton, Chris M A; Fraser, Karl; Young, Wayne; Cooney, Janine; Trower, Tania; Keenan, Jacqueline I; McNabb, Warren C; Mullaney, Jane A; Bayer, Simone B; Talley, Nicholas J; Gearry, Richard B; Angeli-Gordon, Timothy R

Identification of tofersen PD-response biomarkers in VALOR clinical trial CSF via multiplexed quantitative proteomics.

通过多重定量蛋白质组学鉴定 VALOR 临床试验脑脊液中托福生帕金森反应生物标志物。

Guise Amanda J, Ferber Kyle L, Young Damon, Edwards Amanda L, Sabouri Somayeh, Fraser Kyle B, Milliman Eric, Plowey Edward D, Zoghbi Jad, Fradette Stephanie M, Graham Danielle L

Persistent C-peptide secretion is associated with favourable CGM metrics in adults with type 1 diabetes

持续性C肽分泌与1型糖尿病成人患者的良好动态血糖监测指标相关

Stimson, Roland H; Dover, Anna R; Clarke, Catriona; Conceicao, Carina; McDonald, Lindsay; Miller, Lucy; Wise, Helen; Forbes, Shareen; Wright, Rohana J; Lyall, Marcus J; Strachan, Mark W J; Gibb, Fraser W

Immunometabolic blood biomarkers of developmental trajectories of depressive symptoms: findings from the ALSPAC birth cohort

抑郁症状发展轨迹的免疫代谢血液生物标志物:来自ALSPAC出生队列的研究结果

Tsang, Ruby S M; Stow, Daniel; Kwong, Alex S F; Donnelly, Nicholas A; Fraser, Holly; Barroso, Inês; Holmans, Peter A; Owen, Michael J; Wood, Megan L; van den Bree, Marianne B M; Timpson, Nicholas J; Khandaker, Golam M

Gestational diabetes and stillbirth: a systematic review and meta-analysis

妊娠期糖尿病与死产:系统评价和荟萃分析

Bradley, Victoria; Samara, Livia; Toolan, Miriam; Atkinson, Amelia; Caldwell, Deborah M; Fraser, Abigail; Thangaratinam, Shakila; Clayton, Gemma; Merriel, Abi

Leisure-Time Physical Activity and Cancer Mortality Among Cancer Survivors

休闲时间体育活动与癌症幸存者的癌症死亡率

Rees-Punia, Erika; Teras, Lauren R; Newton, Christina C; Moore, Steven C; Lee, I-Min; Bates-Fraser, Lauren; Chiang, Kathryn E; Bloodworth, Den E; Eliassen, A Heather; Mucci, Lorelei; Lynch, Brigid M; Stampfer, Meir; Song, Mingyang; Brantley, Kristen D; Stopsack, Konrad H; Matthews, Charles E; Patel, Alpa V