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

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

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

Somatic TEK Mutation Identified in a Patient with Calvarial Venous Malformations

在一名颅骨静脉畸形患者中发现体细胞TEK突变

Fan, Baojian; Dennis, Evan; Mehta, Neel H; Davalan, William; Fortes, Carla; Swamy, Aditi; Muñoz, William; Jaimes, Camilo; Hale, Andrew T; Kahle, Kristopher T

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

自闭症基因KATNAL2的致病变异会导致脑积水,并通过损害纤毛微管动力学来破坏神经元连接。

DeSpenza, Tyrone Jr; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L; Desmet, Nicole; Dang, Huy Q; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y; Dennis, Evan; Mehta, Neel H; Duy, Phan Q; Shimelis, Hermela; Walsh, Lauren K; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M R; Constable, R Todd; Hoffman, Ellen J; Lifton, Richard P; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L; Jin, Sheng Chih; Kahle, Kristopher T; Luikart, Bryan W

Neural circuit selective for fast but not slow dopamine increases in drug reward

药物奖赏中,选择性地促进快速而非缓慢多巴胺增加的神经回路

Manza, Peter; Tomasi, Dardo; Shokri-Kojori, Ehsan; Zhang, Rui; Kroll, Danielle; Feldman, Dana; McPherson, Katherine; Biesecker, Catherine; Dennis, Evan; Johnson, Allison; Yuan, Kai; Wang, Wen-Tung; Yonga, Michele-Vera; Wang, Gene-Jack; Volkow, Nora D

Age-related differences in striatal dopamine D1 receptors mediate subjective drug effects

纹状体多巴胺D1受体的年龄相关差异介导药物的主观效应。

Manza, Peter; Shokri-Kojori, Ehsan; Demiral, Şükrü Barış; Zhang, Rui; Dennis, Evan; Johnson, Allison; Vines, Leah; Sotelo, Diana; Tomasi, Dardo; Wang, Gene-Jack; Volkow, Nora D

Examining the role of dopamine in methylphenidate's effects on resting brain function

研究多巴胺在哌甲酯对静息脑功能影响中的作用

Tomasi, Dardo; Manza, Peter; Yan, Weizheng; Shokri-Kojori, Ehsan; Demiral, Şükrü Barış; Yonga, Michele-Vera; McPherson, Katherine; Biesecker, Catherine; Dennis, Evan; Johnson, Allison; Zhang, Rui; Wang, Gene-Jack; Volkow, Nora D

Time-varying SUVr reflects the dynamics of dopamine increases during methylphenidate challenges in humans

时变SUVr反映了人类在服用哌甲酯期间多巴胺增加的动态变化。

Tomasi, Dardo; Manza, Peter; Logan, Jean; Shokri-Kojori, Ehsan; Yonga, Michele-Vera; Kroll, Danielle; Feldman, Dana; McPherson, Katherine; Biesecker, Catherine; Dennis, Evan; Johnson, Allison; Yuan, Kai; Wang, Wen-Tung; Butman, John A; Wang, Gene-Jack; Volkow, Nora D