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

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Parental vaccine hesitancy and influenza vaccine type preferences during and after the COVID-19 Pandemic

新冠疫情期间及之后,家长对疫苗的犹豫态度和流感疫苗类型偏好

Yuan, Jiehu; Li, Lan; Dong, Meihong; So, Hau Chi; Cowing, Benjamin J; Ip, Dennis Kai Ming; Liao, Qiuyan

Comprehensive alpha, beta and delta cell transcriptomes reveal that ghrelin selectively activates delta cells and promotes somatostatin release from pancreatic islets

全面的α、β和δ细胞转录组分析表明,生长素释放肽选择性地激活δ细胞,并促进胰岛释放生长抑素。

Michael R DiGruccio ,Alex M Mawla ,Cynthia J Donaldson ,Glyn M Noguchi ,Joan Vaughan ,Christopher Cowing-Zitron ,Talitha van der Meulen ,Mark O Huising

Urocortin3 mediates somatostatin-dependent negative feedback control of insulin secretion

尿皮质素 3 介导生长抑素依赖性胰岛素分泌负反馈控制

Talitha van der Meulen, Cynthia J Donaldson, Elena Cáceres, Anna E Hunter, Christopher Cowing-Zitron, Lynley D Pound, Michael W Adams, Andreas Zembrzycki, Kevin L Grove, Mark O Huising

The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors

Crb1rd8/rd8 纯合小鼠的视网膜病变严重程度取决于其他遗传因素

Ulrich F O Luhmann, Livia S Carvalho, Sophia-Martha Kleine Holthaus, Jill A Cowing, Simon Greenaway, Colin J Chu, Philipp Herrmann, Alexander J Smith, Peter M G Munro, Paul Potter, James W B Bainbridge, Robin R Ali

Retinal structure and function in achromatopsia: implications for gene therapy

全色盲患者的视网膜结构和功能:对基因治疗的启示

Sundaram, Venki; Wilde, Caroline; Aboshiha, Jonathan; Cowing, Jill; Han, Colin; Langlo, Christopher S; Chana, Ravinder; Davidson, Alice E; Sergouniotis, Panagiotis I; Bainbridge, James W; Ali, Robin R; Dubra, Alfredo; Rubin, Gary; Webster, Andrew R; Moore, Anthony T; Nardini, Marko; Carroll, Joseph; Michaelides, Michel

Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration

Ccl2、Cx3cr1 和 Ccl2/Cx3cr1 趋化因子缺乏不足以导致年龄相关性视网膜变性

Ulrich F O Luhmann, Livia S Carvalho, Scott J Robbie, Jill A Cowing, Yanai Duran, Peter M G Munro, James W B Bainbridge, Robin R Ali

Negative regulation of Shh levels by Kras and Fgfr2 during hair follicle development

毛囊发育过程中,Kras 和 Fgfr2 对 Shh 水平的负调控

Mukhopadhyay, Anandaroop; Krishnaswami, Suguna Rani; Cowing-Zitron, Christopher; Hung, Nai-Jung; Reilly-Rhoten, Heather; Burns, Julianne; Yu, Benjamin D

Ultraviolet radiation damages self noncoding RNA and is detected by TLR3

紫外线辐射会损伤自身非编码RNA,并被TLR3检测到。

Bernard, Jamie J; Cowing-Zitron, Christopher; Nakatsuji, Teruaki; Muehleisen, Beda; Muto, Jun; Borkowski, Andrew W; Martinez, Laisel; Greidinger, Eric L; Yu, Benjamin D; Gallo, Richard L

Anion sensitivity and spectral tuning of middle- and long-wavelength-sensitive (MWS/LWS) visual pigments

中长波长敏感(MWS/LWS)视觉色素的阴离子敏感性和光谱调谐

Davies, Wayne I L; Wilkie, Susan E; Cowing, Jill A; Hankins, Mark W; Hunt, David M