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

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

GIGYF1 基因破坏与自闭症和 IGF-1R 信号传导受损有关

Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A Bernier, Rachel K Earl, Evangeline C Kurtz-Nelson, Michaela J Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Al

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

CSDE1基因的异常变异与自闭症相关,并会干扰神经元发育和突触传递。

Hui Guo ,Ying Li ,Lu Shen ,Tianyun Wang ,Xiangbin Jia ,Lijuan Liu ,Tao Xu ,Mengzhu Ou ,Kendra Hoekzema ,Huidan Wu ,Madelyn A Gillentine ,Cenying Liu ,Hailun Ni ,Pengwei Peng ,Rongjuan Zhao ,Yu Zhang ,Chanika Phornphutkul ,Alexander P A Stegmann ,Carlos E Prada ,Robert J Hopkin ,Joseph T Shieh ,Kirsty McWalter ,Kristin G Monaghan ,Peter M van Hasselt ,Koen van Gassen ,Ting Bai ,Min Long ,Lin Han ,Yingting Quan ,Meilin Chen ,Yaowen Zhang ,Kuokuo Li ,Qiumeng Zhang ,Jieqiong Tan ,Tengfei Zhu ,Yaning Liu ,Nan Pang ,Jing Peng ,Daryl A Scott ,Seema R Lalani ,Mahshid Azamian ,Grazia M S Mancini ,Darius J Adams ,Malin Kvarnung ,Anna Lindstrand ,Ann Nordgren ,Jonathan Pevsner ,Ikeoluwa A Osei-Owusu ,Corrado Romano ,Giuseppe Calabrese ,Ornella Galesi ,Jozef Gecz ,Eric Haan ,Judith Ranells ,Melissa Racobaldo ,Magnus Nordenskjold ,Suneeta Madan-Khetarpal ,Jessica Sebastian ,Susie Ball ,Xiaobing Zou ,Jingping Zhao ,Zhengmao Hu ,Fan Xia ,Pengfei Liu ,Jill A Rosenfeld ,Bert B A de Vries ,Raphael A Bernier ,Zhi-Qing David Xu ,Honghui Li ,Wei Xie ,Robert B Hufnagel ,Evan E Eichler ,Kun Xia

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

腺苷酸激酶 2 缺乏症引起的非典型表现的网状发育不全和线粒体病

Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Hey Chong, Suneeta Madan-Khetarpal, Jessica Sebastian, Catherine Walsh Vockley, Miguel Reyes-Múgica, Mark T Vander Lugt, Jerry Vockley