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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Transcription factor NFYA directs male meiotic entry by regulating accessible chromatin at meiotic promoters in mice.

转录因子 NFYA 通过调节小鼠减数分裂启动子处的可及染色质来指导雄性减数分裂的进入。

Säflund Martin, Askari Masomeh, Eghbali Atiyeh, Abdi Mukhtar Mohamed, Er Dilay Deren, Östlund Farrants Ann-Kristin, Yu Tianxiong, Özata Deniz M

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

FSD1L基因的双等位基因变异会导致视网膜色素变性,伴或不伴神经系统受累。

Lin, Siying; Cancellieri, Francesca; Cao, Yexuan; Lotery, Andrew J; Moye, Abigail R; Vaclavik, Veronika; Perren, Fabienne; Poplawski, Andrzej B; Schiff, Elena R; Ullah, Mukhtar; Iglesias-Romero, Ana Belen; Kaminska, Karolina; Jestin, Aleksandr; Folcher, Marc; Wallerich, Sandrine; Ribeiro, Mariana M; Hahaut, Vincent; Picelli, Simone; Mustafi, Debarshi; Tworak, Aleksander; Smidak, Roman; Li, Yumei; Lu, Jiaxiong; Wang, Meng; Mahroo, Omar A; Borooah, Shyamanga; Quinodoz, Mathieu; Palczewski, Krzysztof; Webster, Andrew R; Rivolta, Carlo; Chen, Rui; Arno, Gavin

High prevalence of Trypanosoma spp. and apparent trypanocidal drugs inefficacy in cattle in Al Radom National Park, Sudan

苏丹拉多姆国家公园牛群中锥虫属感染率高,且锥虫杀灭药物疗效不佳

Mohammedsalih, Khalid M; Mukhtar, Maowia M; Ibrahim, Abdoelnaim I Y; Mohammedain, Ibrahim M I; Juma, Fathel-Rahman; Ali, Abdelrahim A; Elamin, Elwaleed M; Bashar, Ahmed; von Samson-Himmelstjerna, Georg; Krücken, Jürgen

Integrative Analysis of Post-Translational Modifications Identifies a PTM-Enriched Regulatory Core in Human Metabolic Enzymes

对翻译后修饰的整合分析揭示了人类代谢酶中富含翻译后修饰的调控核心

Varghese, Susmi; Soman, Sreelakshmi Pathappillil; Ahmed, Mukhtar; John, Levin; Ramesh, Poornima; Soman, Sowmya; Pai, Vinitha Ramanath; Raju, Rajesh

Multi-omics analyses reveal novel metabolic signatures of post-traumatic deep vein thrombosis in patients with coronary heart disease

多组学分析揭示了冠心病患者创伤后深静脉血栓形成的新型代谢特征

Aliyu, Mukhtar; Zhang, Kun; Huang, Wei; Gu, Jinshan; Xue, Hanzhong; Li, Zhong; Lin, Hua; Guo, Yan

Effectiveness of caplacizumab in the first-line treatment for acquired thrombotic thrombocytopenic purpura: single center experience

卡普拉西珠单抗一线治疗获得性血栓性血小板减少性紫癜的疗效:单中心经验

Belakova, Kristina Maria; Pizurova, Renata; Simurda, Tomas; Plamenova, Ivana; Holly, Pavol; Skornova, Ingrid; Agouba, Sohaib Mukhtar; Drotarova, Miroslava; Brunclikova, Monika; Stryckova, Alena; Jusko, Richard; Stasko, Jan; Sokol, Juraj; Jezikova, Alena

Socio-demographic, behavioral, and biological risk factors of hypertension in Kazakhstan: results of a national study

哈萨克斯坦高血压的社会人口学、行为和生物学危险因素:一项全国性研究的结果

Zhukov, Yevgeniy; Nikatov, Kuanysh; Dyussembekov, Ermek; Kastey, Rauan; Yerniyazov, Niyazbek; Korabayev, Mukhtar; Menlayakova, Darina; Muminov, Talgat; Tanabayeva, Shynar; Fakhradiyev, Ildar; Shoranov, Marat

Correlates of HIV pre-exposure prophylaxis (PrEP) uptake among female sex workers in northern Nigeria

尼日利亚北部女性性工作者中艾滋病毒暴露前预防(PrEP)药物使用情况的相关因素

Sadiq, Abubakar A; Iliyasu, Zubairu; Rasheed, Ganiyat F; Sanusi, Rukayat A; Inuwa, Suraj M; Mahmud, Mukhtar; Alkassim, Rukayya S; Iliyasu, Bilkisu Z; Salihu, Hamisu M; Aliyu, Muktar H