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

Clinical phenotypes among patients with familial forms of Chiari malformation type 1

家族性小脑扁桃体下疝畸形1型患者的临床表型

Mekbib, Kedous Y; Muñoz, William; Allington, Garrett; Zhao, Shujuan; Mehta, Neel H; Fortes, Carla; Shohfi, John P; Fan, Baojian; Nelson-Williams, Carol; DeSpenza, Tyrone; Butler, William E; Alper, Seth L; Jackson, Eric M; 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

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

一种新型的SMARCC1 BAF病与人类脑积水相关的神经祖细胞表观遗传失调有关

Singh Amrita K, Allington Garrett, Viviano Stephen, McGee Stephen, Kiziltug Emre, Ma Shaojie, Zhao Shujuan, Mekbib Kedous Y, Shohfi John P, Duy Phan Q, DeSpenza Tyrone Jr, Furey Charuta G, Reeves Benjamin C, Smith Hannah, Sousa André M M, Cherskov Adriana, Allocco August, Nelson-Williams Carol, Haider Shozeb, Rizvi Syed R A, Alper Seth L, Sestan Nenad, Shimelis Hermela, Walsh Lauren K, Lifton Richard P, Moreno-De-Luca Andres, Jin Sheng Chih, Kruszka Paul, Deniz Engin, 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

Utility of cortical tissue analysis in normal pressure hydrocephalus

皮质组织分析在正常压力脑积水中的应用

Greenberg, Ana B W; Mekbib, Kedous Y; Mehta, Neel H; Kiziltug, Emre; Duy, Phan Q; Smith, Hannah R; Junkkari, Antti; Leinonen, Ville; Hyman, Bradley T; Chan, Diane; Curry, William T Jr; Arnold, Steven E; Barker Ii, Frederick G; Frosch, Matthew P; Kahle, Kristopher T

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

多组学分析表明,神经发育程序与脑蛛网膜囊肿的发病机制有关。

Kundishora, Adam J; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y; Gainullin, Vladimir; Timberlake, Andrew T; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q; Elsamadicy, Aladine A; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M; DiLuna, Michael L; Mane, Shrikant; Tikhonova, Irina R; Fu, Po-Ying; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R; Furey, Charuta G; Carter, Bob S; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L; Gunel, Murat; Millan, Francisca; Lifton, Richard P; Torene, Rebecca I; Jin, Sheng Chih; Kahle, Kristopher T

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

蛛网膜囊肿的家族性和综合征性类型提示遗传因素参与了该疾病的发病机制。

Qureshi, Hanya M; Mekbib, Kedous Y; Allington, Garrett; Elsamadicy, Aladine A; Duy, Phan Q; Kundishora, Adam J; Jin, Sheng Chih; Kahle, Kristopher T