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

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

杂合功能缺失变异显著扩展了与 GDF11 缺失相关的表型

Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

更正:yippee like 3 (ypel3) 是一个髓鞘形成和神经周胶质发育所必需的新基因

Blanco-Sánchez, Bernardo; Clément, Aurélie; Stednitz, Sarah J; Kyle, Jennifer; Peirce, Judy L; McFadden, Marcie; Wegner, Jeremy; Phillips, Jennifer B; Macnamara, Ellen; Huang, Yan; Adams, David R; Toro, Camilo; Gahl, William A; Malicdan, May Christine V; Tifft, Cynthia J; Zink, Erika M; Bloodsworth, Kent J; Stratton, Kelly G; Koeller, David M; Metz, Thomas O; Washbourne, Philip; Westerfield, Monte

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

未表现出症状的 AHI1 截短表明严重孟德尔遗传病基因中存在局部功能丧失耐受性。

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; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J

Evolution of the Eye Transcriptome under Constant Darkness in Sinocyclocheilus Cavefish

在持续黑暗条件下,穴居鱼(Sinocyclocheilus Cavefish)眼部转录组的演化

Rasmussen, David A; Boni, Maciej F; Koelle, Katia; Meng, Fanwei; Braasch, Ingo; Phillips, Jennifer B; Lin, Xiwen; Titus, Tom; Zhang, Chunguang; Postlethwait, John H

Evolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefish

在持续黑暗条件下,穴居鱼(Sinocyclocheilus cavefish)眼部转录组的演变

Meng, Fanwei; Braasch, Ingo; Phillips, Jennifer B; Lin, Xiwen; Titus, Tom; Zhang, Chunguang; Postlethwait, John H

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

斑马鱼的视锥细胞优势视网膜和内耳表达 CLRN1 的直系同源物,CLRN1 是人类 Usher 综合征 3A 型的致病基因

Phillips Jennifer B, Västinsalo Hanna, Wegner Jeremy, Clément Aurélie, Sankila Eeva-Marja, Westerfield Monte

Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function

哈莫宁(Ush1c)是斑马鱼穆勒胶质细胞中感光细胞突触发育和功能所必需的。

Phillips, Jennifer B; Blanco-Sanchez, Bernardo; Lentz, Jennifer J; Tallafuss, Alexandra; Khanobdee, Kornnika; Sampath, Srirangan; Jacobs, Zachary G; Han, Philip F; Mishra, Monalisa; Titus, Tom A; Williams, David S; Keats, Bronya J; Washbourne, Philip; Westerfield, Monte

Latent TGF-β–binding protein 4 modifies muscular dystrophy in mice

潜伏性TGF-β结合蛋白4可改善小鼠的肌肉萎缩症。

Wang, Fei; Okamoto, Yasuo; Inoki, Isao; Yoshioka, Kazuaki; Du, Wa; Qi, Xun; Takuwa, Noriko; Gonda, Koichi; Yamamoto, Yasuhiko; Ohkawa, Ryunosuke; Nishiuchi, Takumi; Sugimoto, Naotoshi; Yatomi, Yutaka; Mitsumori, Kunitoshi; Asano, Masahide; Kinoshita, Makoto; Takuwa, Yoh; Hiby, Susan E; Apps, Richard; Sharkey, Andrew M; Farrell, Lydia E; Gardner, Lucy; Mulder, Arend; Claas, Frans H; Walker, James J; Redman, Christopher W; Morgan, Linda; Tower, Clare; Regan, Lesley; Moore, Gudrun E; Carrington, Mary; Moffett, Ashley; den Hollander, Anneke I; Black, Aaron; Bennett, Jean; Cremers, Frans PM; Kasprowicz, Victoria; Ward, Scott M; Turner, Alison; Grammatikos, Alexandros; Nolan, Brian E; Lewis-Ximenez, Lia; Sharp, Charles; Woodruff, Jenny; Fleming, Vicki M; Sims, Stuart; Walker, Bruce D; Sewell, Andrew K; Lauer, Georg M; Klenerman, Paul; Ebermann, Inga; Phillips, Jennifer B; Liebau, Max C; Koenekoop, Robert K; Schermer, Bernhard; Lopez, Irma; Schäfer, Ellen; Roux, Anne-Francoise; Dafinger, Claudia; Bernd, Antje; Zrenner, Eberhart; Claustres, Mireille; Blanco, Bernardo; Nürnberg, Gudrun; Nürnberg, Peter; Ruland, Rebecca; Westerfield, Monte; Benzing, Thomas; Bolz, Hanno J; Rached, Marie-Therese; Kode, Aruna; Silva, Barbara C; Jung, Dae Young; Gray, Susan; Ong, Helena; Paik, Ji-Hye; DePinho, Ronald A; Kim, Jason K; Karsenty, Gerard; Kousteni, Stavroula; Heydemann, Ahlke; Ceco, Ermelinda; Lim, Jackie E; Hadhazy, Michele; Ryder, Pearl; Moran, Jennifer L; Beier, David R; Palmer, Abraham A; McNally, Elizabeth M