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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Glycolipid recognition and binding by Siglec-6 hinges on interactions with the cell membrane

Siglec-6对糖脂的识别和结合依赖于其与细胞膜的相互作用。

D'Andrea, Silvia; Schmidt, Edward N; Bui, Duong; Singh, Ojas; Han, Ling; Mahal, Lara K; Klassen, John S; Macauley, Matthew S; Fadda, Elisa

Differential response of Angus-Hereford and Rarámuri Criollo cattle to a dynamic feeding challenge during the training to an autonomous virtual fencing collar

安格斯-海福特牛和拉拉穆里克里奥罗牛在训练过程中对动态饲喂挑战的不同反应,尤其是在适应自主虚拟围栏项圈方面。

Perea, Andrés R; Macon, Lara K; Spetter, Maximiliano J; Funk, Micah P; Bakir, Mehmet; Estell, Richard E; Bestelmeyer, Brandon T; Cibils, Andres F; Utsumi, Santiago A

The combined effects of temperature and salinity on the stomatogastric nervous system of two species of decapod crustacea

温度和盐度对两种十足类甲壳动物胃神经系统的综合影响

Carrier, Katrina L; Romano, Naamah; Scaria, Lara K; Palmer, Maya; O'Leary, Ryan M; Marder, Eve; Powell, Daniel J

Quantification of Volatile Organic Compounds (VOCs), Nitrogen Oxides (NO (x) ), and Ultrafine Particles (UFPs) Emitted by Domestic Air Fryers: A Chamber Study of Indoor Air Quality Impacts

家用空气炸锅排放的挥发性有机化合物(VOCs)、氮氧化物(NOx)和超细颗粒物(UFPs)的定量分析:室内空气质量影响的舱室研究

Tang, Ruijie; Su, Yizhou; Acton, William Joe F; Dunn, Lara K; Pfrang, Christian

Comprehensive analysis of gp120 glycosylation to explore differences between transmitter/founder and chronic HIV-1 isolates

对gp120糖基化进行全面分析,以探究传播者/创始者与慢性HIV-1分离株之间的差异

Temesy, Stephen; Haly, Jordan; Sun, Yingxue; Patel, Mukti; Zebian, Najwa; Saha, Repon; Galappaththi, Sashini Loku; Zhang, Yiying; Twells, Nick; Mahal, Lara K; Arts, Eric J; Creuzenet, Carole

A hypothalamus-brainstem circuit governs the prioritization of safety over essential needs

下丘脑-脑干回路控制着安全优先于基本需求的排序。

Nathalie Krauth,Lara K Sach,Giacomo Sitzia,Christoffer Clemmensen #,Ole Kiehn #

Selective bioorthogonal probe for N-glycan hybrid structures.

用于N-糖杂合结构的选择性生物正交探针

Mukherjee Mana Mohan, Biesbrock Devin, Abramowitz Lara K, Pavan Matteo, Kumar Bhoj, Walter Peter J, Azadi Parastoo, Jacobson Kenneth A, Hanover John A

Atom-level machine learning of protein-glycan interactions and cross-chiral recognition in glycobiology

糖生物学中蛋白质-聚糖相互作用和交叉手性识别的原子级机器学习

Carpenter, Eric J; Peng, Chuanhao; Haregu, Simatsidk; Twells, Nicholas; Woudstra, Logan; Sood, Amika; Cartmell, Jonathan; Woods, Robert J; Mahal, Lara K; Wang, Sheng-Kai; Greiner, Russell; Derda, Ratmir