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

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

CEP85L 对后新皮质神经元迁移的特异性调节确定了 CDK5 的母体中心粒依赖性激活

Andrew Kodani, Connor Kenny, Abbe Lai, Dilenny M Gonzalez, Edward Stronge, Gabrielle M Sejourne, Laura Isacco, Jennifer N Partlow, Anne O'Donnell, Kirsty McWalter, Alicia B Byrne, A James Barkovich, Edward Yang, R Sean Hill, Pawel Gawlinski, Wojciech Wiszniewski, Julie S Cohen, S Ali Fatemi, Kristin

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

EXOC7 和 EXOC8 对人类大脑皮层发育的调节、胞外囊泡复合体的组成部分以及在神经祖细胞增殖和存活中的作用

Michael E Coulter, Damir Musaev, Ellen M DeGennaro, Xiaochang Zhang, Katrin Henke, Kiely N James, Richard S Smith, R Sean Hill, Jennifer N Partlow, Muna Al-Saffar, A Stacy Kamumbu, Nicole Hatem, A James Barkovich, Jacqueline Aziza, Nicolas Chassaing, Maha S Zaki, Tipu Sultan, Lydie Burglen, Anna Raj

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

钠通道SCN3A(NaV1.3)对人类大脑皮层褶皱和口腔运动发育的调控

Richard S Smith ,Connor J Kenny ,Vijay Ganesh ,Ahram Jang ,Rebeca Borges-Monroy ,Jennifer N Partlow ,R Sean Hill ,Taehwan Shin ,Allen Y Chen ,Ryan N Doan ,Anna-Kaisa Anttonen ,Jaakko Ignatius ,Livija Medne ,Carsten G Bönnemann ,Jonathan L Hecht ,Oili Salonen ,A James Barkovich ,Annapurna Poduri ,Martina Wilke ,Marie Claire Y de Wit ,Grazia M S Mancini ,Laszlo Sztriha ,Kiho Im ,Dina Amrom ,Eva Andermann ,Ritva Paetau ,Anna-Elina Lehesjoki ,Christopher A Walsh ,Maria K Lehtinen

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

具有自闭症特征的神经发育障碍中的 PSMD12 单倍体不足

Raida Khalil, Connor Kenny, R Sean Hill, Ganeshwaran H Mochida, Ramzi Nasir, Jennifer N Partlow, Brenda J Barry, Muna Al-Saffar, Chloe Egan, Christine R Stevens, Stacey B Gabriel, A James Barkovich, Jay W Ellison, Lihadh Al-Gazali, Christopher A Walsh, Maria H Chahrour

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

整合基因组和转录组测序确定基因组复制因子 DONSON 中的非编码突变是导致小头畸形-小肢畸形综合征的原因

Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Sp

Evolution of Osteocrin as an activity-regulated factor in the primate brain

骨蛋白作为灵长类大脑活动调节因子的进化

Bulent Ataman, Gabriella L Boulting, David A Harmin, Marty G Yang, Mollie Baker-Salisbury, Ee-Lynn Yap, Athar N Malik, Kevin Mei, Alex A Rubin, Ivo Spiegel, Ershela Durresi, Nikhil Sharma, Linda S Hu, Mihovil Pletikos, Eric C Griffith, Jennifer N Partlow, Christine R Stevens, Mazhar Adli, Maria Chah

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

线粒体酶 GPT2 突变可导致代谢功能障碍和具有发育和进行性特征的神经系统疾病

Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M Davidson, Chendong Yang, Michael Schmidt, Sofia B Lizarraga, Sasmita Mishra, Malak Ei-Quessny, Saima Niaz, Mirrat Gul Butt, Syed Imran Murtaza, Afzal Javed, Haroon Rashid Chaudhry, Dylan J Vaughan, R Sean Hill, Jennifer N Partlow, Seung-Yun Yoo, Anh-T

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

PYCR2(编码吡咯烷-5-羧酸还原酶 2)突变导致小头畸形和髓鞘发育不全

Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R Sean Hill, Jennifer N Partlow, Muna Al-Saffar, Sarah Servattalab, Christopher M LaCoursiere, Dimira E Tambunan, Michael E Coulter, Princess C Elhosary, Grze

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

中心粒卫星组装中心粒小头畸形蛋白以募集 CDK2 并促进中心粒复制

Andrew Kodani, Timothy W Yu, Jeffrey R Johnson, Divya Jayaraman, Tasha L Johnson, Lihadh Al-Gazali, Lāszló Sztriha, Jennifer N Partlow, Hanjun Kim, Alexis L Krup, Alexander Dammermann, Nevan J Krogan, Christopher A Walsh, Jeremy F Reiter

Katanin p80 regulates human cortical development by limiting centriole and cilia number

Katanin p80 通过限制中心粒和纤毛数量来调节人类皮质发育

Wen F Hu, Oz Pomp, Tawfeg Ben-Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H Mochida, Timothy W Yu, Mollie B Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N Partlow, Mohammed Al-Dosari, Anas Alazami, Mohammed Alowa