气候变化领域集成服务门户(CCPortal): Mapping the molecular and cellular complexity of cortical malformations

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DOI	10.1126/science.aba4517
	Mapping the molecular and cellular complexity of cortical malformations
	Klingler E.; Francis F.; Jabaudon D.; Cappello S.
发表日期	2021
ISSN	0036-8075
卷号	371 期号:6527
英文摘要	The cerebral cortex is an intricate structure that controls human features such as language and cognition. Cortical functions rely on specialized neurons that emerge during development from complex molecular and cellular interactions. Neurodevelopmental disorders occur when one or several of these steps is incorrectly executed. Although a number of causal genes and disease phenotypes have been identified, the sequence of events linking molecular disruption to clinical expression mostly remains obscure. Here, focusing on human malformations of cortical development, we illustrate how complex interactions at the genetic, cellular, and circuit levels together contribute to diversity and variability in disease phenotypes. Using specific examples and an online resource, we propose that a multilevel assessment of disease processes is key to identifying points of vulnerability and developing new therapeutic strategies. © 2021 American Association for the Advancement of Science. All rights reserved.
英文关键词	abnormality; cell component; disease incidence; immune response; language; molecular analysis; vulnerability; axon; brain development; brain malformation; cell compartmentalization; cell kinetics; cell migration; disease assessment; disease association; functional connectivity; gene sequence; genetic susceptibility; human; intracellular space; microgyria; molecular dynamics; neocortex; nonhuman; phenotype; priority journal; Review; stem cell; synaptogenesis; animal; antibody specificity; behavior; brain cortex; cell motion; cytology; gene expression regulation; genetics; mental disease; metabolism; mouse; nerve cell; nerve tract; nervous system development; neurologic disease; physiology; ultrastructure; Animals; Behavior; Cell Movement; Cerebral Cortex; Gene Expression Regulation, Developmental; Humans; Mental Disorders; Mice; Nervous System Diseases; Neural Pathways; Neurogenesis; Neurons; Organ Specificity
语种	英语
来源期刊	Science
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/244363
作者单位	Department of Basic Neurosciences, University of Geneva, Geneva, CH-1202, Switzerland; INSERM U 1270, Paris, F-75005, France; Sorbonne University, UMR-S 1270, Paris, F-75005, France; Institut du Fer à Moulin, Paris, F-75005, France; Clinic of Neurology, Geneva University Hospital, Geneva, 1211, Switzerland; Max Planck Institute of Psychiatry, Munich, 80804, Germany
推荐引用方式 GB/T 7714	Klingler E.,Francis F.,Jabaudon D.,et al. Mapping the molecular and cellular complexity of cortical malformations[J],2021,371(6527).
APA	Klingler E.,Francis F.,Jabaudon D.,&Cappello S..(2021).Mapping the molecular and cellular complexity of cortical malformations.Science,371(6527).
MLA	Klingler E.,et al."Mapping the molecular and cellular complexity of cortical malformations".Science 371.6527(2021).