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

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

WASHC3基因(WASH复合体的一个组成部分)的变异会导致身材矮小、不同程度的神经发育异常和独特的面部畸形。

Jee, Youn Hee; Lui, Julian C; Marafi, Dana; Xia, Zhi-Jie; Bhatia, Ruchika; Zhou, Elaine; Herman, Isabella; Temnycky, Adrian; Whalen, Philip; Elliot, Gene; Leschek, Ellen W; Wijngaard, Robin; van Beek, Ronald; de Vreugd, Annemarie; de Vries, Maaike C; van Karnebeek, Clara D M; Oud, Machteld M; Markello, Thomas C; Barnes, Kevin M; Alrohaif, Hadil; Freeze, Hudson H; Gahl, William A; Malicdan, May Christine V; Posey, Jennifer E; Lupski, James R; Baron, Jeffrey

Disruption of Visc-2, a Brain-Expressed Conserved Long Noncoding RNA, Does Not Elicit an Overt Anatomical or Behavioral Phenotype

Visc-2(一种在大脑中表达的保守长链非编码RNA)的破坏不会引起明显的解剖或行为表型

Oliver, Peter L; Chodroff, Rebecca A; Gosal, Amrit; Edwards, Benjamin; Cheung, Amanda F P; Gomez-Rodriguez, Julio; Elliot, Gene; Garrett, Lisa J; Lickiss, Tom; Szele, Francis; Green, Eric D; Molnár, Zoltán; Ponting, Chris P

Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2

Wnt信号梯度通过Ror2诱导Vangl2磷酸化来建立平面细胞极性。

Gao, Bo; Song, Hai; Bishop, Kevin; Elliot, Gene; Garrett, Lisa; English, Milton A; Andre, Philipp; Robinson, James; Sood, Raman; Minami, Yasuhiro; Economides, Aris N; Yang, Yingzi

Predisposition to cancer caused by genetic and functional defects of mammalian Atad5.

哺乳动物 Atad5 的遗传和功能缺陷导致癌症易感性

Bell Daphne W, Sikdar Nilabja, Lee Kyoo-Young, Price Jessica C, Chatterjee Raghunath, Park Hee-Dong, Fox Jennifer, Ishiai Masamichi, Rudd Meghan L, Pollock Lana M, Fogoros Sarah K, Mohamed Hassan, Hanigan Christin L, Zhang Suiyuan, Cruz Pedro, Renaud Gabriel, Hansen Nancy F, Cherukuri Praveen F, Borate Bhavesh, McManus Kirk J, Stoepel Jan, Sipahimalani Payal, Godwin Andrew K, Sgroi Dennis C, Merino Maria J, Elliot Gene, Elkahloun Abdel, Vinson Charles, Takata Minoru, Mullikin James C, Wolfsberg Tyra G, Hieter Philip, Lim Dae-Sik, Myung Kyungjae

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish

通过斑马鱼转基因技术鉴定小鼠Sox10基因座的神经嵴和胶质细胞增强子

Antonellis, Anthony; Huynh, Jimmy L; Lee-Lin, Shih-Queen; Vinton, Ryan M; Renaud, Gabriel; Loftus, Stacie K; Elliot, Gene; Wolfsberg, Tyra G; Green, Eric D; McCallion, Andrew S; Pavan, William J