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

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

Recombinant Protein Nanoparticles for Dual-Stage Inhibition of SARS-CoV‑2 Infection

重组蛋白纳米颗粒用于双重抑制SARS-CoV-2感染

Pham, Giang H; Tseng, Hsiang-Chi; Agayby, Kerolos; Odle, Abby; Hammer, Daniel A; Rajsbaum, Ricardo; Chattaraj, Rajarshi

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

RP9 再探;RP9 p.(H137L) 突变仍然是显性剪接因子视网膜色素变性的可能病因。

Chang, Leon; Poulter, James A; Webster, Andrew R; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J; Watson, Christopher M; Inglehearn, Chris F

Unravelling genetic susceptibility and causal factors in liver health using MRI quantification of inflammation, fat and iron in the liver

利用磁共振成像技术定量分析肝脏炎症、脂肪和铁含量,揭示肝脏健康的遗传易感性和致病因素

Meena, Devendra; Pansini, Michele; Fichera, Alessandro; Huang, Jingxian; Ahmed, Altayeb; Dehghan, Abbas; Banerjee, Rajarshi; Yaghootkar, Hanieh

Combating Drug Resistance in Mycobacterium Tuberculosis: A Combinatorial in Silico and Experimental Modeling Approach Toward Novel ATP Synthase Inhibitor Discovery

对抗结核分枝杆菌耐药性:一种结合计算机模拟和实验建模的新型ATP合酶抑制剂发现方法

El-Zoheiry, Haidy H; Bhowmik, Ratul; Manaithiya, Ajay; Ray, Rajarshi; Samantaray, Mahesh; Ramaswamy, Amutha; Aspatwar, Ashok

Cardiac and liver impairment on multiorgan MRI and risk of major adverse cardiovascular and liver events

多器官磁共振成像显示心脏和肝脏功能受损,以及发生重大不良心血管和肝脏事件的风险

Jackson, Edward; Dennis, Andrea; Alkhouri, Naim; Samala, Niharika; Vuppalanchi, Raj; Sanyal, Arun J; Muthiah, Mark; Banerjee, Rajarshi; Banerjee, Amitava

LRRK2 kinase activity regulates Parkinson's disease-relevant lipids at the lysosome

LRRK2激酶活性调节溶酶体中与帕金森病相关的脂质

Michael T Maloney #,Xiang Wang #,Rajarshi Ghosh,Shan V Andrews,Romeo Maciuca,Shababa T Masoud,Maayan Agam,Richard M Caprioli,Giuseppe Astarita,Vitaliy V Bondar,John Chen,Chi-Lu Chiu,Sonnet S Davis,Audrey Cheuk-Nga Ho,Hoang N Nguyen,Nicholas E Propson,Michelle L Reyzer,Oliver B Davis,Matthew C Deen,Sha Zhu,Gilbert Di Paolo,David J Vocadlo,Anthony A Estrada,Javier de Vicente,Joseph W Lewcock,Annie Arguello,Jung H Suh,Sarah Huntwork-Rodriguez,Anastasia G Henry

LRRK2 kinase activity regulates Parkinson's disease-relevant lipids at the lysosome

LRRK2激酶活性调节溶酶体中与帕金森病相关的脂质

Michael T Maloney # ,Xiang Wang # ,Rajarshi Ghosh ,Shan V Andrews ,Romeo Maciuca ,Shababa T Masoud ,Maayan Agam ,Richard M Caprioli ,Giuseppe Astarita ,Vitaliy V Bondar ,John Chen ,Chi-Lu Chiu ,Sonnet S Davis ,Audrey Cheuk-Nga Ho ,Hoang N Nguyen ,Nicholas E Propson ,Michelle L Reyzer ,Oliver B Davis ,Matthew C Deen ,Sha Zhu ,Gilbert Di Paolo ,David J Vocadlo ,Anthony A Estrada ,Javier de Vicente ,Joseph W Lewcock ,Annie Arguello ,Jung H Suh ,Sarah Huntwork-Rodriguez ,Anastasia G Henry

Single-Cell Transcriptomic Atlas of Peripheral Blood Reveals B-Cell-Driven Signature Predictive of Acute Pancreatitis Severity.

外周血单细胞转录组图谱揭示了B细胞驱动的特征,可预测急性胰腺炎的严重程度

Xie Rongli, Xiao Guohui, Yang Kaige, Wang Xiaofeng, Chen Cong, Ding Min, Zhou Tong, Mukherjee Rajarshi, Sutton Robert, Chen Erzhen, Chen Ying, Huang Wei, Xu Dan, Fei Jian