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Mitochondrial hydrogen sulfide supplementation improves health in the C. elegans Duchenne muscular dystrophy model 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 9
作者:  Ellwood R.A.;  Hewitt J.E.;  Torregrossa R.;  Philp A.M.;  Hardee J.P.;  Hughes S.;  van de Klashorst D.;  Gharahdaghi N.;  Anupom T.;  Slade L.;  Deane C.S.;  Cooke M.;  Etheridge T.;  Piasecki M.;  Antebi A.;  Lynch G.S.;  Philp A.;  Vanapalli S.A.;  Whiteman M.;  Szewczyk N.J.
收藏  |  浏览/下载：42/0  |  提交时间：2021/05/24
Deletion of phosphatidylserine flippase beta-subunit Tmem30a in satellite cells leads to delayed skeletal muscle regeneration 期刊论文
ZOOLOGICAL RESEARCH, 2021, 卷号: 42, 期号: 5
作者:  Sun, Kuan-Xiang;  Jiang, Xiao-Yan;  Li, Xiao;  Su, Yu-Jing;  Wang, Ju-Lin;  Zhang, Lin;  Yang, Ye-Ming;  Zhu, Xian-Jun
收藏  |  浏览/下载：25/0  |  提交时间：2022/04/28
PHOSPHOLIPID FLIPPASE  MUSCULAR-DYSTROPHY  CDC50 PROTEINS  STEM-CELLS  FIBROBLASTS  EXPRESSION  TRANSPORT  PROLIFERATION  LOCALIZATION  MAINTENANCE  
Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 2
作者:  Nga M.Y.;  Lia H.;  Ghelfia M.D.;  Goldmanb Y.E.;  Coopermana B.S.
收藏  |  浏览/下载：2/0  |  提交时间：2021/05/24
New method identifies adaptive mutations in complex evolving populations 科技资讯
2020
收藏  |  浏览/下载：1/0  |  提交时间：2020/12/01
Structural characterization of the D290V mutation site in hnRNPA2 low-complexity-domain polymers 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2018, 卷号: 115, 期号: 42
作者:  Murray D.T.;  Zhou X.;  Kato M.;  Xiang S.;  Tycko R.;  McKnight S.L.
收藏  |  浏览/下载：8/0  |  提交时间：2021/01/06
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome 期刊论文
NATURE GENETICS, 2017, 卷号: 49, 期号: 2, 页码: 238-248
作者:  Shaw, Natalie D.;  Brand, Harrison;  Kupchinsky, Zachary A.;  Bengani, Hemant;  Plummer, Lacey;  Jones, Takako I.;  Erdin, Serkan;  Williamson, Kathleen A.;  Rainger, Joe;  Stortchevoi, Alexei;  Samocha, Kaitlin;  Curra, Benjamin B.;  Dunican, Donncha S.;  Collins, Ryan L.;  Willer, Jason R.;  Lek, Angela;  Lek, Monkol;  Nassan, Malik;  Pereira, Shahrin;  Kammin, Tammy;  Lucente, Diane;  Silva, Alexandra;  Seabra, Catarina M.;  Chiang, Colby;  Ana, Yu;  Ansari, Morad;  Rainger, Jacqueline K.;  Joss, Shelagh;  Smith, Jill Clayton;  Lippincott, Margaret F.;  Singh, Sylvia S.;  Patel, Nirav;  Jing, Jenny W.;  Law, Jennifer R.;  Ferraro, Nalton;  Verloes, Main;  Rauch, Anita;  Steindl, Katharina;  Zweier, Markus;  Scheer, Ianina;  Sato, Daisuke;  Okamoto, Nobuhiko;  Jacobsen, Christina;  Tryggestad, Jeanie;  Chernausek, Steven;  Schimmenti, Lisa A.;  Brasseur, Benjamin;  Cesaretti, Claudia;  Garcia-Ortiz, Jose E.;  Pineda Buitrago, Tatiana;  Perez Silva, Orlando;  Hoffman, Jodi D.;  Muehlbauer, Wolfgang;  Ruprecht, Klaus W.;  Loeys, Bart L.;  Shino, Masato;  Kaind, Angela M.;  Cho, Chie-Hee;  Morton, Cynthia C.;  Meehan, Richard R.;  van Heyningen, Veronica;  Liao, Eric C.;  Balasubramanian, Ravikumar;  Hall, Janet E.;  Seminara, Stephanie B.;  Macarthur, Daniel;  Moore, Steven A.;  Yoshiura, Koh-ichiro;  Gusella, James F.;  Marsh, Joseph A.;  Graham, John M., Jr.;  Lin, Angela E.;  Katsanis, Nicholas;  Jones, Peter L.;  Crowley, William F., Jr.;  Davis, Erica E.;  FitzPatrick, David R.;  Talkowski, Michael E.
收藏  |  浏览/下载：46/0  |  提交时间：2019/05/04
Cardiac structure and function in female carrier's of a canine model of Duchenne muscular dystrophy 期刊论文
RESEARCH IN VETERINARY SCIENCE, 2013, 卷号: 94, 期号: 3, 页码: 610-617
作者:  Kane, A. M.;  DeFrancesco, T. C.;  Boyle, M. C.;  Malarkey, D. E.;  Ritchey, J. W.;  Atkins, C. E.;  Cullen, J. M.;  Kornegay, J. N.;  Keene, B. W.
收藏  |  浏览/下载：21/0  |  提交时间：2019/05/04