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

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

位点饱和功能筛选可识别与乳腺癌风险增加相关的 PALB2 错义变异。

Boonen Rick A C M, Knaup Sabine C, Menafra Roberta, Braspenning Merel E, Rother Magdalena B, Kleiblova Petra, Janatova Marketa, Ruano Dina, Hu Chunling, Huang Huaizhi, Joseph Vijai, Conry Michael, Heijl Stephan, Vroling Bas, Goeman Jelle J, Varga Matthew, Richardson Marcy E, Kloet Susan L, Couch Fergus J, Vreeswijk Maaike P G, van Attikum Haico

Messages for ultraviolet-radiation protection to fair-skinned populations

向白皙肤色人群宣传紫外线防护信息

Brochez, Lieve; Garbe, Claus; Amaral, Teresa; Arenberger, Petr; Astratinei, Violeta; Autier, Philippe; Berwick, Marianne; Bylaite, Matilda; Boonen, Brigitte; Del Marmol, Veronique; Dreno, Brigitte; Fargnoli, Maria Concetta; Green, Adele C; Greinert, Rüdiger; Hauschild, Axel; Harwood, Catherine A; Hoorens, Isabelle; Kandolf, Lidija; Kaufmann, Roland; Kelleners-Smeets, Nicole; Lallas, Aimilios; Lebbé, Celeste; Leiter, Ulrike; Lim, Henry W; Longo, Caterina; Malvehy, Joseph; Moreno, David; Östman, Fredrik; Pellacani, Giovanni; Peris, Ketty; Robert, Caroline; Ryll, Bettina; Saiag, Philippe; Schadendorf, Dirk; Soyer, Peter; Spurrier-Bernard, Gilliosa; Stockfleth, Eggert; Stratigos, Alex; Uhara, Hisashi; Vieira, Ricardo; Weinstock, Martin A; Whitaker, Dagmar; Whiteman, David C; Zalaudek, Iris; Forsea, Ana-Maria

Maspardin/SPG21 controls lysosome motility and TFEB phosphorylation through RAB7 positioning

Maspardin/SPG21通过RAB7定位调控溶酶体运动和TFEB磷酸化。

Jacqmin, Thomas; Gilis, Florentine; Albert, Martine; Gaussin, Jean-François; Jadot, Michel; Boonen, Marielle

Immunopeptidomics of cutaneous leishmaniasis patients reveals the natural antigenic landscape

皮肤利什曼病患者的免疫肽组学揭示了其天然抗原图谱

de Vrij, Nicky; Pepermans, Elise; Laurijssen, Louise; Pham, Thao-Thy; Thijs, Lauren; Boonen, Kurt; Ramadan, Kadrie; Maes, Ilse; Aleka, Yetemwork; Kassa, Mekibib; Mekonnen, Tigist; Asres, Mezgebu Silamsaw; Woldetensay, Mikias; Hassen, Seid; Bialfew, Fentaw; Tilahun Zewdu, Feleke; Abdela, Seid Getahun; Domagalska, Malgorzata Anna; Cuypers, Bart; van Henten, Saskia; van Griensven, Johan; Meysman, Pieter; Baggerman, Geert; Laukens, Kris; Adriaensen, Wim

Spatial transcriptomic profiling reveals body site-specific inflammatory differences in psoriasis lesions

空间转录组分析揭示银屑病皮损部位特异性炎症差异

Emmanuel, Thomas; Ben Abdallah, Hakim; Nielsen, Morten Muhlig; Ignatov, Borislav; Baez, Elena; Andersen, Anna Skarnvad; Waaben, Line; Boye, Mette; Kaaber, Ida; Boonen, Desirée Sofie; Petersen, Søren Riis; Steiniche, Torben; Bregnhøj, Anne; Eidsmo, Liv; Iversen, Lars; Vestergaard, Christian; Johansen, Claus

Surface Plasmon Resonance as a Potential Diagnostic Tool for the Detection of CXC Chemokine Receptor 4 (CXCR4) on Extracellular Vesicles

表面等离子共振作为一种潜在的诊断工具,用于检测细胞外囊泡上的CXC趋化因子受体4(CXCR4)

Verleye, Kaat; Noppen, Sam; Boonen, Arnaud; Yildizhan, Yagmur; Van Loy, Tom; Heens, Cindy; Vanderhoydonc, Frank; Pinheiro, Cláudio; Lins, Paula M Pincela; Bronckaers, Annelies; Hendrix, An; Swinnen, Johannes V; Spasic, Dragana; Lammertyn, Jeroen; Pannecouque, Christophe; Schols, Dominique

Pilot Investigation on the Metabolic Effects of Cimicifuga racemosa Extract Ze 450 and Voluntary Physical Activity in Female Rats

升麻提取物 Ze 450 对雌性大鼠代谢影响及自愿性身体活动的初步研究

Habersatter, Elisabeth; Kostov, Tihomir; Laing, Nele; Drewe, Jürgen; Boonen, Georg; Butterweck, Veronika; Diel, Patrick Rene

Disease activity and mental health symptoms in axial spondyloarthritis: concordant or discordant?

中轴型脊柱关节炎的疾病活动度和心理健康症状:一致还是不一致?

Zhao, Sizheng Steven; Webers, Casper; Nikiphorou, Elena; van der Heijde, Désirée; Braun, Jürgen; Kiltz, Uta; Ramiro, Sofia; Boonen, Annelies

Coping with rheumatic stressors in long-standing axial spondyloarthritis: association with patient and disease characteristics

长期中轴型脊柱关节炎患者应对风湿性应激因素:与患者和疾病特征的关联

van Essen, Marc; Capelusnik, Dafne; van der Heijde, Désirée; Landewé, Robert B M; van Lankveld, Wim; van Tubergen, Astrid; Ramiro, Sofia; Boonen, Annelies