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

Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin

四跨膜蛋白 CD82 与肌肉细胞中的运输囊泡相关,并与 Dysferlin 和 Myoferlin 结合

Tatiana Fontelonga, Arielle J Hall, Jaedon L Brown, Youngsook L Jung, Matthew S Alexander, Janice A Dominov, Vincent Mouly, Natassia Vieira, Mayana Zatz, Mariz Vainzof, Emanuela Gussoni

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

纠正由新型内含子 dysferlin 突变引起的假外显子剪接

Dominov Janice A, Uyan Özgün, McKenna-Yasek Diane, Nallamilli Babi Ramesh Reddy, Kergourlay Virginie, Bartoli Marc, Levy Nicolas, Hudson Judith, Evangelista Teresinha, Lochmuller Hanns, Krahn Martin, Rufibach Laura, Hegde Madhuri, Brown Robert H Jr

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

全基因组分析鉴定出KIF5A是一种新的ALS基因

Nicolas, Aude; Kenna, Kevin P; Renton, Alan E; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A; Kenna, Brendan J; Nalls, Mike A; Keagle, Pamela; Rivera, Alberto M; van Rheenen, Wouter; Murphy, Natalie A; van Vugt, Joke J F A; Geiger, Joshua T; Van der Spek, Rick A; Pliner, Hannah A; Shankaracharya; Smith, Bradley N; Marangi, Giuseppe; Topp, Simon D; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D; Kenna, Aoife; Mora, Gabriele; Calvo, Andrea; Mazzini, Letizia; Riva, Nilo; Mandrioli, Jessica; Caponnetto, Claudia; Battistini, Stefania; Volanti, Paolo; La Bella, Vincenzo; Conforti, Francesca L; Borghero, Giuseppe; Messina, Sonia; Simone, Isabella L; Trojsi, Francesca; Salvi, Fabrizio; Logullo, Francesco O; D'Alfonso, Sandra; Corrado, Lucia; Capasso, Margherita; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Goldstein, David B; Gitler, Aaron D; Harris, Tim; Myers, Richard M; Phatnani, Hemali; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia K; LeNail, Alex; Lima, Leandro; Fraenkel, Ernest; Svendsen, Clive N; Thompson, Leslie M; Van Eyk, Jennifer E; Berry, James D; Miller, Timothy M; Kolb, Stephen J; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J Paul; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P; Sorarù, Gianni; Cereda, Cristina; Corcia, Philippe; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W; Sidle, Katie C; Malaspina, Andrea; Hardy, John; Singleton, Andrew B; Johnson, Janel O; Arepalli, Sampath; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; Baas, Frank; Ten Asbroek, Anneloor L M A; Muñoz-Blanco, José Luis; Hernandez, Dena G; Ding, Jinhui; Gibbs, J Raphael; Scholz, Sonja W; Floeter, Mary Kay; Campbell, Roy H; Landi, Francesco; Bowser, Robert; Pulst, Stefan M; Ravits, John M; MacGowan, Daniel J L; Kirby, Janine; Pioro, Erik P; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L; Brady, Christopher B; Kowall, Neil W; Troncoso, Juan C; Le Ber, Isabelle; Mouzat, Kevin; Lumbroso, Serge; Heiman-Patterson, Terry D; Kamel, Freya; Van Den Bosch, Ludo; Baloh, Robert H; Strom, Tim M; Meitinger, Thomas; Shatunov, Aleksey; Van Eijk, Kristel R; de Carvalho, Mamede; Kooyman, Maarten; Middelkoop, Bas; Moisse, Matthieu; McLaughlin, Russell L; Van Es, Michael A; Weber, Markus; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Morrison, Karen E; Basak, A Nazli; Mora, Jesús S; Drory, Vivian E; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Hardiman, Orla; Williams, Kelly L; Fifita, Jennifer A; Nicholson, Garth A; Blair, Ian P; Rouleau, Guy A; Esteban-Pérez, Jesús; García-Redondo, Alberto; Al-Chalabi, Ammar; Rogaeva, Ekaterina; Zinman, Lorne; Ostrow, Lyle W; Maragakis, Nicholas J; Rothstein, Jeffrey D; Simmons, Zachary; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A; Feldman, Eva L; Gibson, Summer B; Taroni, Franco; Ratti, Antonia; Gellera, Cinzia; Van Damme, Philip; Robberecht, Wim; Fratta, Pietro; Sabatelli, Mario; Lunetta, Christian; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Camu, William; Trojanowski, John Q; Van Deerlin, Vivianna M; Brown, Robert H Jr; van den Berg, Leonard H; Veldink, Jan H; Harms, Matthew B; Glass, Jonathan D; Stone, David J; Tienari, Pentti; Silani, Vincenzo; Chiò, Adriano; Shaw, Christopher E; Traynor, Bryan J; Landers, John E

Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

回复评论:利用反义寡核苷酸绕过一种新型的dysferlin突变假外显子

Dominov, Janice A; Uyan, Özgün; Sapp, Peter C; McKenna-Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Hegde, Madhuri; Brown, Robert H Jr

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

用反义寡核苷酸绕过的新型 dysferlin 突变伪外显子

Janice A Dominov, Ozgün Uyan, Peter C Sapp, Diane McKenna-Yasek, Babi R R Nallamilli, Madhuri Hegde, Robert H Brown Jr

Bcl-2 inhibits the innate immune response during early pathogenesis of murine congenital muscular dystrophy

Bcl-2 抑制小鼠先天性肌营养不良症早期发病过程中的先天免疫反应

Sheila Jeudy, Katherine E Wardrop, Amy Alessi, Janice A Dominov

Proinflammatory signals and the loss of lymphatic vessel hyaluronan receptor-1 (LYVE-1) in the early pathogenesis of laminin alpha2-deficient skeletal muscle

促炎信号和淋巴管透明质酸受体-1 (LYVE-1) 的丢失在层粘连蛋白 α2 缺乏的骨骼肌的早期发病机制中

Katherine E Wardrop, Janice A Dominov

Immortalization of mouse myogenic cells can occur without loss of p16INK4a, p19ARF, or p53 and is accelerated by inactivation of Bax

小鼠成肌细胞的永生化可以在不损失 p16INK4a、p19ARF 或 p53 的情况下发生,并且会因 Bax 的失活而加速

Jonathan A Nowak, Jonathan Malowitz, Mahasweta Girgenrath, Christine A Kostek, Amanda J Kravetz, Janice A Dominov, Jeffrey Boone Miller

Regeneration of transgenic skeletal muscles with altered timing of expression of the basic helix-loop-helix muscle regulatory factor MRF4

通过改变碱性螺旋-环-螺旋肌肉调节因子 MRF4 的表达时间,实现转基因骨骼肌的再生

Pavlath, Grace K; Dominov, Janice A; Kegley, Kristy M; Miller, Jeffrey Boone

Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice

在缺乏dysferlin的SJL/J小鼠中,MHC I类分子表达上调伴随自发性肌病发生,但并非其发生所必需。

Kostek, Christine A; Dominov, Janice A; Miller, Jeffrey Boone