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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Aspergillus fumigatus Sensitization Is Associated With High-Risk Bronchiectasis

烟曲霉致敏与高危支气管扩张症相关

Tiew, Pei Yee; Narayana, Jayanth Kumar; Jaggi, Tavleen Kaur; Koh, Mariko Siyue; Lee, Ken Cheah Hooi; Puah, Ser Hon; Hull, Rebecca C; Long, Merete B; Low, Teck Boon; Poh, Mau Ern; Blasi, Francesco; Aliberti, Stefano; Chalmers, James D; Chew, Fook Tim; Chotirmall, Sanjay H

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Metformin and butyrate attenuate chronic radiation proctitis by alleviating inflammation and macrophage senescence.

二甲双胍和丁酸盐通过减轻炎症和巨噬细胞衰老来缓解慢性放射性直肠炎。

Chi Mau-Shin, Jen Huan-I, Ho Shu-Yi, Yang Kai-Lin, Ko Hui-Ling, Chi Kwan-Hwa

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Supporting General Practitioners to Deprescribe Benzodiazepines and Z-Drugs in Primary Care: Findings From a Modified Delphi Study

支持全科医生在初级保健中停止处方苯二氮卓类药物和Z类药物:一项改良德尔菲研究的发现

Oldenhof, Erin; Pisegna, Megan; Horowitz, Mark; Wilson, Hester; Gelb, Karen; Trumble, Stephen; Andronis, Catherine; Tracy, Marguerite; Zwar, Nicholas A; Mau, Andrew; Chapman, Anna; Staiger, Petra K

Thrombospondin-4 drives lymphangiogenesis through cooperation with VEGF-C in human bladder cancer

血小板反应蛋白-4通过与VEGF-C协同作用促进人类膀胱癌中的淋巴管生成

Hwang, Thomas I-Sheng; Peng, Pei-Wen; Chi, Mau-Shin; Chou, Kuang-Yu; Tsai, Te-Fu; Ho, Chao-Yen; Chang, An-Chen

Hyperbaric oxygen protects against periodontal bone loss by modulating inflammation and bone remodeling via RANKL/OPG expression in ligature-induced periodontitis

高压氧通过调节结扎诱导牙周炎中RANKL/OPG的表达来调控炎症和骨重塑,从而保护牙周骨免受丢失。

Tu, Kang-Wei; Huang, Chien-Cheng; Lin, Mao-Tsun; Niu, Ko-Chi; Lin, Cheng-Hsien; Chao, Pi-Yu; Chang, Ching-Ping; Mau, Jimmy Lian Ping

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation

严重职业性过敏性肺炎:四例需行肺移植的病例系列

Frei-Stuber, Ludwig; Mohren, Judith; Mau, Ester; Werner, Bernhard; Hatz, Rudolf A; Barton, Jürgen; Nowak, Dennis