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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane 期刊论文 Journal of the American Society of Nephrology : JASN, 2017, 卷号: 28, 期号: 1 作者:  Xu, Wenyan/57194736961[0];  Jin, Miaomiao/57194735523[1];  Hu, Ruikun/57194736655[2];  Wang, Hong/57194738422[3];  Zhang, Fan/57194736039[4] 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05 cilia  Inpp5e  phosphoinositides  polycystic kidney disease   Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review 期刊论文 Clinical Dysmorphology, 2017, 卷号: 26, 期号: 3, 页码: 135-141 作者:  Kaihui.Zhang;  Chen.Meng;  Jing.Ma;  Min.Gao;  Yuqiang.Lv 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 high-throughput nucleotide sequencing  Joubert syndrome 10  mutation  OFD1   Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene 期刊论文 human molecular genetics, 2015 Elsayed Solaf M; Phillips Jennifer B; Heller Raoul; Thoenes Michaela; Elsobky Ezzat; Nürnberg Gudrun; Nürnberg Peter; Seland Saskia; Ebermann Inga; Altmüller Janine; Thiele Holger; Toliat Mohammad; K?rber Friederike; Hu Xue-Jia; Wu Yun-Dong; Zaki Maha S; Abdel-Salam Ghada; Gleeson Joseph; Boltshauser Eugen; Westerfield Monte; Bolz Hanno J 收藏  |  浏览/下载：4/0  |  提交时间：2015/11/13 Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy 期刊论文 human mutation, 2014 Beck, Bodo B.; Phillips, Jennifer B.; Bartram, Melte P.; Wegner, Jeremy; Thoenes, Michaele; Pannes, Andrea; Sampson, Josephina; Heller, Raoul; Goebel, Heike; Koerber, Friederike; Neugebauer, Antje; Hedergott, Andrea; Nuernberg, Gudrun; Nuernberg, Peter; Thiele, Holger; Altmueller, Janine; Toliat, Mohammad R.; Staubach, Simon; Boycott, Kym M.; Valente, Enza Maria; Janecke, Andreas R.; Eisenberger, Tobias; Bergmann, Carsten; Tebbe, Lars; Wang, Yang; Wu, Yundong; Fry, Andrew M.; Westerfield, Monte; Wolfrum, Uwe; Bolz, Hanno J. 收藏  |  浏览/下载：4/0  |  提交时间：2015/11/11 POC1B  LCA  Joubert syndrome  cliopathy  zebrafish  LEBER CONGENITAL AMAUROSIS  SENIOR-LOKEN SYNDROME  JOUBERT-SYNDROME  LINKAGE ANALYSIS  DOMAIN PROTEIN  CILIARY  GENE  DISEASE  CELLS  NEPHRONOPHTHISIS   Cilia and ciliopathies: From Chlamydomonas and beyond 期刊论文 2010, 2010 Pan JunMin 收藏  |  浏览/下载：4/0 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 期刊论文 NATURE GENETICS, 2006, 卷号: 38, 期号: 6, 页码: 674-681 作者:  Sayer, JA;  Otto, EA;  O'Toole, JF;  Nurnberg, G;  Kennedy, MA 收藏  |  浏览/下载：24/0  |  提交时间：2015/07/22