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

Extracellular heme:DNA complexes promote oxidative stress and inflammation during lupus-associated hemolysis

细胞外血红素-DNA复合物在狼疮相关溶血过程中促进氧化应激和炎症。

Janovicova, Lubica; Janikova, Monika; Pastorek, Michal; Csizmadia, Eva; Yoder, Cherith; Lesayova, Alexandra; Geyer, Liam; Kyttaris, Vasileios C; Tsokos, George C; Celec, Peter; Wegiel, Barbara

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Alpha-synuclein overexpression triggers divergent cellular responses and post-translational modifications in SH-SY5Y and ReNcell VM models.

α-突触核蛋白过表达在 SH-SY5Y 和 ReNcell VM 模型中引发不同的细胞反应和翻译后修饰。

Momand Miraj Ud Din, Majerova Petra, Mjartinova Diana, Maruskinova Natalia, Albertusova Karolina, Dobrota Michael, Fialova Lubica, Stefankova Sara, Podlesniy Petar, Muhammadi Muhammad Khalid, Balaz Miroslav, Fricova Dominika

Pathophysiology of homocysteine: insights into ion channel dysfunction

同型半胱氨酸的病理生理学:离子通道功能障碍的深入研究

Chmúrčiaková, Nikola; Stringer, Robin N; Cmarko, Leoš; Filipova, Alzbeta; Lacinova, Lubica; Weiss, Norbert

Total Hip Arthroplasty with the Conservative Cementless MINIMA Size 1 Stem in Patients with a Small Femoral Canal: 3-6 Years of Follow-Up

采用保守型无骨水泥MINIMA 1号柄对股骨髓腔较小的患者进行全髋关节置换术:3-6年随访

Hrubina, Maros; Melisik, Marian; Cibula, Zoltan; Lisy, Peter; Cabala, Juraj; Cipkala, Milan; Kasakova, Lubica; Hrubinova, Jana

Exploratory Analysis of Candidate Gene Variants in Developmental Dysplasia of the Hip: Evidence for the Role of GDF5 rs143384

对发育性髋关节发育不良候选基因变异的探索性分析:GDF5 rs143384 作用的证据

Harsanyi, Stefan; Neuschlova, Lucia; Milosovicova, Lubica; Zamborsky, Radoslav; Pastorakova, Andrea; Danisovic, Lubos

Influence of the drone brood homogenate on the gut integrity and cellular immunity: A pilot study on pigs

雄蜂幼虫匀浆对猪肠道完整性和细胞免疫的影响:一项初步研究

Karaffova, Viera; Mudronova, Dagmar; Levkut, Martin; Rajcakova, Lubica; Hudec, Erik; Zitnan, Rudolf; Patras, Peter

Destabilization of PF4-antigenic complexes in heparin-induced thrombocytopenia

肝素诱导的血小板减少症中PF4抗原复合物的不稳定

Rauova, Lubica; Bdeir, Khalil; Rux, Ann H; Kalathottukaren, Manu Thomas; Oberg, Jenna; La, Chanel C; Lim, David T E; Hayes, Vincent; Koma, Gavin T; Sarkar, Amrita; Poncz, Mortimer; Kizhakkedathu, Jayachandran N; Cines, Douglas B

Multifunctional, Fluorene-Based Modulator of Cholinergic and GABAergic Neurotransmission as a Novel Drug Candidate for Palliative Treatment of Alzheimer's Disease

一种多功能、基于芴的胆碱能和GABA能神经传递调节剂,作为阿尔茨海默病姑息治疗的新型候选药物

Panek, Dawid; Pasieka, Anna; Jończyk, Jakub; Gawlińska, Milena; Zaręba, Paula; Siwek, Agata; Wolak, Małgorzata; Mordyl, Barbara; Głuch-Lutwin, Monika; Latacz, Gniewomir; Brazzolotto, Xavier; Chantegreil, Fabien; Nachon, Florian; Zdarova Karasova, Jana; Pejchal, Jaroslav; Mzik, Martin; Sestak, Vit; Prchal, Lukas; Odvarkova, Jitka; Soukup, Ondrej; Korabecny, Jan; Sorf, Ales; Hamsikova, Marie; Zemanova, Lucie; Muckova, Lubica; Vánova, Nela; Dryja, Pola; Sałat, Kinga; Höfner, Georg; Wanner, Klaus; Więckowska, Anna; Malawska, Barbara