• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders.

作者信息

Zheng Fengyun, Liu Guoyuan, Dang Ting, Chen Qiaowen, An Yu, Wu Meng, Kong Xiangxuan, Qiu Zilong, Wu Bai-Lin

机构信息

Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

Department of Pathology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.

出版信息

Neurosci Bull. 2021 Aug;37(8):1240-1245. doi: 10.1007/s12264-021-00707-7. Epub 2021 Jun 5.

DOI:10.1007/s12264-021-00707-7
PMID:34089506
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8353034/
Abstract
摘要

相似文献

1
GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders.γ-氨基丁酸信号通路相关基因PLCL1的罕见变异可能与自闭症谱系障碍有关。
Neurosci Bull. 2021 Aug;37(8):1240-1245. doi: 10.1007/s12264-021-00707-7. Epub 2021 Jun 5.
2
[A review on the role of γ-aminobutyric acid signaling pathway in autism spectrum disorder].[γ-氨基丁酸信号通路在自闭症谱系障碍中的作用综述]
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):974-978. doi: 10.7499/j.issn.1008-8830.2018.11.019.
3
Short communication: Sex-linked differences in gamma-aminobutyric acid (GABA) are related to social functioning in autism spectrum disorder.短篇通讯：性连锁差异的γ-氨基丁酸（GABA）与自闭症谱系障碍的社交功能有关。
Psychiatry Res Neuroimaging. 2018 Apr 30;274:19-22. doi: 10.1016/j.pscychresns.2018.02.004. Epub 2018 Feb 21.
4
An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders.γ-氨基丁酸 A 型受体变异与孤独症谱系障碍易感性的关联研究。
J Autism Dev Disord. 2021 Nov;51(11):4043-4053. doi: 10.1007/s10803-020-04865-x. Epub 2021 Jan 13.
5
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.罕见的 RELN 变异会影响自闭症谱系障碍中的 Reelin-DAB1 信号转导。
Hum Mutat. 2018 Oct;39(10):1372-1383. doi: 10.1002/humu.23584. Epub 2018 Jul 26.
6
Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder.自闭症谱系障碍青年大脑皮层 GABA 和谷氨酸浓度。
Autism Res. 2020 Jul;13(7):1111-1129. doi: 10.1002/aur.2300. Epub 2020 Apr 16.
7
Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism.注意力缺陷多动障碍中的谷氨酸能和γ-氨基丁酸能基因集：与多动症和自闭症重叠特征的关联
Transl Psychiatry. 2017 Jan 10;7(1):e999. doi: 10.1038/tp.2016.273.
8
Tactile hypersensitivity and GABA concentration in the sensorimotor cortex of adults with autism.孤独症成人感觉运动皮层的触觉过敏和 GABA 浓度。
Autism Res. 2019 Apr;12(4):562-575. doi: 10.1002/aur.2073. Epub 2019 Jan 11.
9
A Magnetic Resonance Spectroscopy Study of Superior Visual Search Abilities in Children with Autism Spectrum Disorder.孤独症谱系障碍儿童优越视觉搜索能力的磁共振波谱研究。
Autism Res. 2020 Apr;13(4):550-562. doi: 10.1002/aur.2258. Epub 2020 Jan 7.
10
Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorder.谷氨酸、谷氨酰胺和 GABA 的绝对和相对比值与自闭症谱系障碍严重程度的关系。
Metab Brain Dis. 2018 Jun;33(3):843-854. doi: 10.1007/s11011-018-0186-6. Epub 2018 Feb 3.

引用本文的文献

1
Investigating the genetic relationship of intracranial and subcortical brain volumes with depression and other psychiatric disorders.研究颅内和皮质下脑容量与抑郁症及其他精神疾病之间的遗传关系。
Imaging Neurosci (Camb). 2024 Sep 19;2. doi: 10.1162/imag_a_00291. eCollection 2024.
2
Genome-wide association study identifies DRAM1 associated with Tourette syndrome in Taiwan.全基因组关联研究确定DRAM1与台湾抽动秽语综合征相关。
Biomed J. 2024 Dec;47(6):100725. doi: 10.1016/j.bj.2024.100725. Epub 2024 Apr 10.
3
Dysregulation of hypoxia-inducible factor 1α in the sympathetic nervous system accelerates diabetic cardiomyopathy.缺氧诱导因子 1α 在交感神经系统中的失调加速糖尿病心肌病的发生。
Cardiovasc Diabetol. 2023 Apr 18;22(1):88. doi: 10.1186/s12933-023-01824-5.
4
Genetic architecture of the white matter connectome of the human brain.人类大脑白质连接组的遗传结构。
Sci Adv. 2023 Feb 17;9(7):eadd2870. doi: 10.1126/sciadv.add2870.
5
Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.与自闭症谱系障碍儿童和青少年血浆催产素水平相关的遗传和表观遗传特征。
Autism Res. 2023 Mar;16(3):502-523. doi: 10.1002/aur.2884. Epub 2023 Jan 7.

本文引用的文献

1
Towards the Framework of Understanding Autism Spectrum Disorders.迈向理解自闭症谱系障碍的框架。
Neurosci Bull. 2019 Nov 9;35(6):1110-2. doi: 10.1007/s12264-019-00443-z.
2
Getting to the Cores of Autism.深入自闭症核心。
Cell. 2019 Sep 5;178(6):1287-1298. doi: 10.1016/j.cell.2019.07.037.
3
Paternally inherited cis-regulatory structural variants are associated with autism.父系遗传的顺式调控结构变异与自闭症有关。
Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.
4
Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.自闭症相关的 Dyrk1a 截断突变体损害神经元树突和棘突的生长，并干扰出生后的皮质发育。
Mol Psychiatry. 2018 Mar;23(3):747-758. doi: 10.1038/mp.2016.253. Epub 2017 Feb 7.
5
Are Molecules Involved in Neuritogenesis and Axon Guidance Related to Autism Pathogenesis?参与神经突发生和轴突导向的分子与自闭症发病机制有关吗？
Neuromolecular Med. 2015 Sep;17(3):297-304. doi: 10.1007/s12017-015-8357-7. Epub 2015 May 20.
6
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.在与电子病历相关的儿科队列中进行的全表型组关联研究（PheWAS），从基因层面将PLCL1与语言发育联系起来，并将IL5 - IL13与嗜酸性粒细胞性食管炎联系起来。
Front Genet. 2014 Nov 18;5:401. doi: 10.3389/fgene.2014.00401. eCollection 2014.
7
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.在胼胝体发育不全中，罕见的和新生的拷贝数变异很常见，但在小脑发育不良或多小脑回中则不然。
PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.
8
Focusing on the interactions between the GABAergic system and neurosteroids in neurodevelopmental disorders.关注 GABA 能系统与神经甾体在神经发育障碍中的相互作用。
Curr Pharm Des. 2013;19(36):6491-8. doi: 10.2174/1381612811319360009.
9
A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.自闭症和癫痫的共同易感因素：GABA A 受体功能缺失。
J Autism Dev Disord. 2013 Jan;43(1):68-79. doi: 10.1007/s10803-012-1543-7.
10
Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype.PLCγ1 相关但无催化活性蛋白 1 敲除小鼠的突触外 GABA 能传递功能障碍与癫痫表型相关。
J Pharmacol Exp Ther. 2012 Mar;340(3):520-8. doi: 10.1124/jpet.111.182386. Epub 2011 Nov 29.