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

Sequential transcriptional waves and NF-κB-driven chromatin remodeling direct drug-induced dedifferentiation in cancer.

连续的转录波和 NF-κB 驱动的染色质重塑直接导致药物诱导的癌症去分化。

Su Yapeng, Liu Chunmei, Lu Xiang, Chuang Hui-Yu, Li Guideng, Shao Shiqun, Kong Yan, Lee Jihoon W, Ng Rachel H, Wong Stephanie, Robert Lidia, Warden Charles, Liu Victoria, Chen Jie, Wang Zhuo, Qin Guangrong, Tang Yin, Cheng Hanjun, Ng Alphonsus H C, Chen Daniel, Peng Songming, Xue Min, Johnson Dazy, Xu Yu, Wang Jinhui, Wu Xiwei, Shmulevich Ilya, Shi Qihui, Levine Raphael, Ribas Antoni, Baltimore David, Guo Jun, Heath James R, Wei Wei

Author Correction: TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model

作者更正:在粘多糖贮积症 IIIB 小鼠模型中,白藜芦醇诱导的自噬中 TFEB、FOXO3 和 TLR4 的作用

Rintz, Estera; Podlacha, Magdalena; Gaffke, Lidia; Jerzemowska, Grażyna; Cyske, Zuzanna; Pierzynowska, Karolina; Węgrzyn, Grzegorz

TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model

在粘多糖贮积症 IIIB 小鼠模型中,白藜芦醇诱导的自噬中 TFEB、FOXO3 和 TLR4 的作用

Rintz, Estera; Podlacha, Magdalena; Gaffke, Lidia; Jerzemowska, Grażyna; Cyske, Zuzanna; Pierzynowska, Karolina; Węgrzyn, Grzegorz

Posttranscriptional reprogramming controls MASLD progression through chronic ER stress adaptation.

转录后重编程通过慢性内质网应激适应来控制MASLD的进展。

Belloc Eulalia, Calderone Vittorio, Naranjo-Suarez Salvador, Mateo Lidia, Martin Judit, Malizia Florencia, Sibilio Annarita, Chanes Veronica, Ramirez-Pedraza Marta, Delgado M Eugenia, Drebber Uta, Rheinwalt Karl-Peter, Klein Sabine, Brol Maximilian Joseph, Schierwagen Robert, Trebicka Jonel, Aloy Patrick, Fernandez Mercedes, Mendez Raul

Brain atrophy patterns in anti-IgLON5 disease

抗IgLON5疾病的脑萎缩模式

Yogeshwar, Selina M; Bartels, Frederik; Grüter, Thomas; Muñiz-Castrillo, Sergio; Picard, Géraldine; Crijnen, Yvette S; Bernard, Emilien; Heidbreder, Anna; Zekeridou, Anastasia; Ringelstein, Marius; Kraft, Andrea; Kovac, Stjepana; Wandinger, Klaus-Peter; de Vries, Juna M; Boon, Agnita J W; Veenbergen, Sharon; Geis, Christian; Penner, Loana; Melzer, Nico; Leypoldt, Frank; Blaabjerg, Morten; Pittock, Sean J; Gaig, Carles; Sabater, Lidia; Santamaria, Joan; Graus, Francesc; Dalmau, Josep; Prüss, Harald; Höftberger, Romana; Schreiner, Bettina; McKeon, Andrew; Lewerenz, Jan; Irani, Sarosh; Mignot, Emmanuel; Titulaer, Maarten J; Ayzenberg, Ilya; Honnorat, Jérôme; Finke, Carsten

Characterisation of the gut-lung axis microbiome in clinically stable patients with chronic obstructive pulmonary disease

对临床病情稳定的慢性阻塞性肺疾病患者肠-肺轴微生物组进行特征分析

Viglino, Julieta; Perea, Lidia; Garcia-Nuñez, Marian; Rodrigo-Troyano, Ana; Torrego, Alfons; Domínguez-Alvarez, Marisol; Villar, Judith; Carrizosa, Xènia; Quero, Sara; Gabaldon, Toni; Willis, Jesse R; Saus, Ester; Gea, Joaquim; Santos, Salud; Camps, Paula; Agustí, Alvar; Monso, Eduard; Sibila, Oriol; Faner, Rosa

The Impact of Concordance between Liquid and Tissue Biopsy for Actionable Mutations: Insights from the ROME Trial

液体活检和组织活检结果一致性对可操作突变的影响:来自 ROME 试验的启示

Botticelli, Andrea; Cremolini, Chiara; Scagnoli, Simone; Biffoni, Mauro; Lonardi, Sara; Fornaro, Lorenzo; Guarneri, Valentina; De Giorgi, Ugo; Ascierto, Paolo Antonio; Blandino, Giovanni; D'Amati, Giulia; Aglietta, Massimo; Conte, Pierfranco; Crimini, Edoardo; Ceracchi, Maurizio; Pisegna, Simona; Verkhovskaia, Sofia; Bordonaro, Roberto; Bracarda, Sergio; Butturini, Giovanni; Del Mastro, Lucia; DeCensi, Andrea; Fabbri, Agnese; Fenocchio, Elisabetta; Gori, Stefania; Metro, Giulio; Pessino, Annamaria; Pozzessere, Daniele; Puglisi, Fabio; Tamberi, Stefano; Zambelli, Alberto; Marino, Donatella; Capoluongo, Ettore; Cappuzzo, Federico; Cerbelli, Bruna; Giannini, Giuseppe; Malapelle, Umberto; Mazzuca, Federica; Nuti, Marianna; Pruneri, Giancarlo; Simmaco, Maurizio; Strigari, Lidia; Tonini, Giuseppe; Martini, Nello; Curigliano, Giuseppe; Marchetti, Paolo

CRISPR activation screens map the genomic landscape of cancer glycome remodeling

CRISPR激活筛选绘制癌症糖组重塑的基因组图谱

Daly, John; Piatnitca, Lidia; Al-Seragi, Mohammed; Krishnamoorthy, Vignesh; Wisnovsky, Simon

Statement from the frontal fibrosing alopecia international expert alliance: SOFFIA 2024

来自额部纤维化性脱发国际专家联盟的声明:SOFFIA 2024

Meah, Nekma; Li, Jane; Wall, Dmitri; York, Katherine; Bhoyrul, Bevin; Bokhari, Laita; Coulthard, Lachlan; Asfour, Leila; Abraham, Leonardo Spagnol; Asz-Sigall, Daniel; Bergfeld, Wilma F; Betz, Regina C; Blume-Peytavi, Ulrike; Callender, Valerie; Chitreddy, Vijaya; Combalia, Andrea; Cotsarelis, George; Craiglow, Brittany; Dhurat, Rachita; Dlova, Ncoza; Donovan, Jeff; Doroshkevich, Andrei; Eisman, Samantha; Farrant, Paul; Gadzhigoroeva, Aida; Green, Jack; Grimalt, Ramon; Harries, Matthew; Hordinsky, Maria; Irvine, Alan D; Jolliffe, Victoria; Kaiumov, Spartak; King, Brett; Kossard, Steven; Lee, Joyce; Lee, Won-Soo; Lortkipanidze, Nino; McMichael, Amy; Atanaskova Mesinkovska, Natasha; Messenger, Andrew; Mirmirani, Paradi; Olsen, Elise; Orlow, Seth J; Ovcharenko, Yuliya; Piraccini, Bianca Maria; Pirmez, Rodrigo; Rakowska, Adriana; Reygagne, Pascal; Roberts, Janet; Rudnicka, Lidia; Saceda-Corralo, David; Shapiro, Jerry; Sharma, Pooja; Silyuk, Tatiana; Suchonwanit, Poonkiat; Takwale, Anita; Tosti, Antonella; Visser, W I; Vañó-Galván, Sergio; Vogt, Annika; Wade, Martin; Yip, Leona; Zlotogorski, Abraham; Zhou, Cheng; Sinclair, Rodney