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

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants

携带新生截断型 MACF1 变异的个体出现全面发育迟缓和局灶性癫痫发作

Xi, Jianan; Deng, Fangyu; Liang, Menghui; Ding, Yerui; Li, Xining; Gu, Zhanghan; Lin, Zhongdong; Liu, Zhenwei; Li, Xiucui

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Identification of MACF1 as a causative gene of generalised epilepsy

鉴定MACF1为全身性癫痫的致病基因

Lei, Xiao-Yun; Zhang, Meng-Wen; Sun, Hui; Song, Wang; Liang, Xiao-Yu; Wang, Cui-Shan; Luo, Sheng; Li, Bing-Mei; Liu, Xiao-Rong; Wang, Yao; Tian, Yang; Peng, Qian; Wang, Jie; Meng, Heng; He, Na; Liao, Wei-Ping

Transcriptional activation of MACF1 by NR2F1 drives WNT-mediated focal adhesion and metastasis in lung adenocarcinoma.

NR2F1 转录激活 MACF1 可驱动 WNT 介导的肺腺癌黏着斑和转移。

Zhou Yi, Wang Jing, Sun Yangcheng, Zhang Qiangyan, Su Xiangyu

A Novel Candidate Gene MACF1 is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family

伊朗一个家族中发现一种新的候选基因MACF1与常染色体显性非综合征性听力损失相关

Bazazzadegan, Niloofar; Babanejad, Mojgan; Banihashemi, Susan; Arzhangi, Sanaz; Kahrizi, Kimia; Booth, Kevin Ta; Najmabadi, Hossein

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report

一例早产儿同时存在新生MACF1基因突变和遗传性16p13.11微重复,并伴有肌张力低下、关节松弛和多发性先天性畸形:病例报告

Mi, Lanlan; Yao, Ruen; Guo, Weiwei; Wang, Jian; Zhang, Guoqing; Ye, Xiuxia

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy

一名患有自闭症谱系障碍和癫痫的患者,其MACF1基因中存在错义突变

Capisizu, Alexandru; Sandu, Carmen; Caragea, Roxana Maria; Capisizu, Adriana Sorina

MACF1 deficiency suppresses tooth mineralization through IGF1 mediated crosstalk between odontoblasts and ameloblasts

MACF1 缺乏通过 IGF1 介导的成牙本质细胞和成釉细胞之间的相互作用抑制牙齿矿化。

Qiu, Wuxia; Lin, Xiao; Yang, Shaoqing; Chen, Zhihao; Zhang, Kewen; Yang, Chaofei; Li, Yu; Miao, Zhiping; Deng, Xiaoni; Duan, Xiaohong; Qian, Airong

Role of microtubule actin crosslinking factor 1 (MACF1) in bipolar disorder pathophysiology and potential in lithium therapeutic mechanism

微管肌动蛋白交联因子1 (MACF1) 在双相情感障碍病理生理学中的作用及其在锂治疗机制中的潜在应用

Salem, Deepak; Fecek, Ronald J