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

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus

从头发生的TRIO错义变异破坏Ras-GEF结构域,导致先天性脑室扩大和脑积水

Mehta, Neel H; Dennis, Evan; Allington, Garrett; Mekbib, Kedous Y; Hale, Andrew T; Davalan, William C; Duy, Phan Q; Zilla, Emmarose; Fan, Baojian; Kasper, Ekkehard M; Alper, Seth L; Haider, Shozeb; Kahle, Kristopher T

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

激活Ras-MAPK通路变体驱动人类癫痫海马克隆竞争

Khoshkhoo, Sattar; Bae, Mingyun; Wang, Yilan; Tillett, Ashton; Ramirez, Rosita B; Finander, Benjamin; Egan, Emily D; Marx, Linus; Patel, Dipan; Zhou, Zinan; Chahine, Yasmine; Chhouk, Brian; Zoullas, Sofia M; Lai, Abbe; Coras, Roland; Bielle, Franck; Navarro, Vincent; Mathon, Bertrand; Valiante, Taufik A; Moradi Chameh, Homeira; Gao, Andrew F; Krings, Timo; Gooley, Samuel; Hildebrand, Michael S; Bulluss, Kristian; Clark, Jonathan; Morokoff, Andrew P; King, James A; Todaro, Marian; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F; Scheffer, Ingrid E; Perucca, Piero; Lapinskas, Emily; Rolston, John D; Cosgrove, G Rees; Sarkis, Rani A; D'Gama, Alissa M; Alexadrescu, Sanda; Yang, Edward; Poduri, Annapurna; Richardson, R Mark; Erson-Omay, E Zeynep; DeLanerolle, Nihal; Spencer, Dennis D; Brown, Katherine S-M; Miller, Michael B; Roberts, Amy E; Santos, Luana N; Kontaridis, Maria I; Bien, Christian G; Blacklow, Stephen C; Kahle, Kristopher T; Blümcke, Ingmar; Huang, August Yue; Lee, Eunjung Alice; Walsh, Christopher A

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

PTEN 突变会通过扰乱脑室周围神经祖细胞来损害脑脊液动力学和皮层网络

DeSpenza Tyrone Jr, Kiziltug Emre, Allington Garrett, Barson Daniel G, McGee Stephen, O'Connor David, Robert Stephanie M, Mekbib Kedous Y, Nanda Pranav, Greenberg Ana B W, Singh Amrita, Duy Phan Q, Mandino Francesca, Zhao Shujuan, Lynn Anna, Reeves Benjamin C, Marlier Arnaud, Getz Stephanie A, Nelson-Williams Carol, Shimelis Hermela, Walsh Lauren K, Zhang Junhui, Wang Wei, Prina Mackenzi L, OuYang Annaliese, Abdulkareem Asan F, Smith Hannah, Shohfi John, Mehta Neel H, Dennis Evan, Reduron Laetitia R, Hong Jennifer, Butler William, Carter Bob S, Deniz Engin, Lake Evelyn M R, Constable R Todd, Sahin Mustafa, Srivastava Siddharth, Winden Kellen, Hoffman Ellen J, Carlson Marina, Gunel Murat, Lifton Richard P, Alper Seth L, Jin Sheng Chih, Crair Michael C, Moreno-De-Luca Andres, Luikart Bryan W, Kahle Kristopher T

Preterm Birth and Risk of Health Service Use, Morbidity, and Medication Needs at 5 Years

早产与5岁时医疗服务利用、发病率和用药需求风险

Richter, Lindsay L; Shen, Ye; Lisonkova, Sarka; Bone, Jeffrey N; Albert, Arianne; Ho, Matthew S P; Kieran, Emily; Chan, Edmond S; Mammen, Cherry; Lam, Carol; Chan, Anthony K C; Roberts, Ashley; Kang, Kristopher T; Castaldo, Michael; Rumsey, Dax; McGrath, Tara; Harris, Kevin C; Yang, Connie L; Wong, Jonathan; Chan, Natalie H; Lee, James; Rassekh, Shahrad R; Hutcheon, Jennifer; Ting, Joseph Y

Molecular hallmarks of hydrocephalus

脑积水的分子特征

Hale, Andrew T; Zhou, Blake; Rajan, Arjun; Duy, Phan Q; Goolam, Mubeen; Alper, Seth L; Lehtinen, Maria K; Lancaster, Madeline A; Fame, Ryann M; Kahle, Kristopher T

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly

新生变异破坏了先天性脑室扩大症中 LDB1 调控的转录网络

Allington, Garrett; Mehta, Neel H; Dennis, Evan; Mekbib, Kedous Y; Reeves, Benjamin; Kiziltug, Emre; Chen, Shuang; Zhao, Shujuan; Duy, Phan Q; Saleh, Maha; Ang, Lee C; Fan, Baojian; Nelson-Williams, Carol; Moreno-de-Luca, Andrés; Haider, Shozeb; Lifton, Richard P; Alper, Seth L; McGee, Stephen; Jin, Sheng Chih; Kahle, Kristopher T

Single-cell elderly blood-CSF atlas implicates peripherally influenced immune dysregulation in normal pressure hydrocephalus

单细胞老年人血脑脊液图谱揭示外周影响的免疫失调与正常压力脑积水有关

Duy, Phan Q; Kiziltug, Emre; Greenberg, Ana B W; Mehta, Neel H; Hao, Le T; Fortes, Carla; Mullany, Susan; Fan, Baojian; Manichaikul, Ani; Teich, Andrew F; Chan, Diane; Alper, Seth L; Hyman, Bradley T; Arnold, Steven E; McKhann, Guy M; Frosch, Matthew P; Kahle, Kristopher T

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

RNA结合蛋白TRIM71对人类和小鼠的听觉以及听觉感觉器官的发育至关重要

Li Xiao-Jun, Morgan Charles, Duy Phan Q, Evsen Lale, Hao Le T, Machavoine Roxane, Belhous Kahina, Ernest Sylvain, Denoyelle Françoise, Mignot Cyril, Brioude Frederic, Parodi Marine, Li Lin, Huang He, Nadar Ponniah Prathamesh T, Kolanus Waldemar, Kahle Kristopher T, Marlin Sandrine, Doetzlhofer Angelika

Unbiased CSF Proteomics in Patients With Idiopathic Normal Pressure Hydrocephalus to Identify Molecular Signatures and Candidate Biomarkers

对特发性正常压力脑积水患者进行无偏倚脑脊液蛋白质组学分析,以识别分子特征和候选生物标志物

de Geus, Matthijs B; Wu, Chao-Yi; Dodge, Hiroko; Leslie, Shannon N; Wang, Weiwei; Lam, TuKiet T; Kahle, Kristopher T; Chan, Diane; Kivisäkk, Pia; Nairn, Angus C; Arnold, Steven E; Carlyle, Becky C

An opportune time for targeted brain arteriovenous malformation therapy

针对脑动静脉畸形进行靶向治疗的良机

Hale, Andrew T; Kalailingam, Pazhanichamy; Kundishora, Adam J; Reeves, Benjamin C; Brastianos, Priscilla K; Shih, Helen A; Jain, Rakesh K; Ning, MingMing; Stapleton, Christopher J; Patel, Aman B; Smith, Edward R; Chapman, Paul H; Rabinov, James D; Kleinstiver, Benjamin P; Musolino, Patricia L; Kahle, Kristopher T