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本文引用的文献

1
Molecular logic of neocortical projection neuron specification, development and diversity.新皮层投射神经元特化、发育和多样性的分子逻辑。
Nat Rev Neurosci. 2013 Nov;14(11):755-69. doi: 10.1038/nrn3586. Epub 2013 Oct 9.
2
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.与伴有多囊性脑白质营养不良的新型肌肉-眼-脑疾病样表型相关的同型肌营养不良蛋白聚糖突变
Neurogenetics. 2013 Nov;14(3-4):205-13. doi: 10.1007/s10048-013-0374-9. Epub 2013 Sep 20.
3
The genetic landscapes of autism spectrum disorders.自闭症谱系障碍的遗传景观。
Annu Rev Genomics Hum Genet. 2013;14:191-213. doi: 10.1146/annurev-genom-091212-153431. Epub 2013 Jul 22.
4
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.TUBG1、DYNC1H1、KIF5C 和 KIF2A 基因突变可导致皮质发育畸形和小头畸形。
Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21.
5
Differential tangential expansion as a mechanism for cortical gyrification.差异切向扩展作为大脑皮质脑回形成的一种机制。
Cereb Cortex. 2014 Aug;24(8):2219-28. doi: 10.1093/cercor/bht082. Epub 2013 Mar 29.
6
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.巨脑回畸形，体后生发性神经发育障碍的范例。
Curr Opin Neurol. 2013 Apr;26(2):122-7. doi: 10.1097/WCO.0b013e32835ef373.
7
Development of cortical folding during evolution and ontogeny.大脑皮层褶皱在进化和个体发育过程中的发展。
Trends Neurosci. 2013 May;36(5):275-84. doi: 10.1016/j.tins.2013.01.006. Epub 2013 Feb 14.
8
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.双皮质素相关无脑回畸形谱系的基因型-表型相关性的新见解。
Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.
9
Using whole-exome sequencing to identify inherited causes of autism.利用全外显子组测序鉴定自闭症的遗传病因。
Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.
10
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.自闭症的全基因组测序确定了新生种系突变的热点。
Cell. 2012 Dec 21;151(7):1431-42. doi: 10.1016/j.cell.2012.11.019.

神经发育障碍的多样遗传格局。

The diverse genetic landscape of neurodevelopmental disorders.

作者信息

Hu Wen F, Chahrour Maria H, Walsh Christopher A

机构信息

Division of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email:

出版信息

Annu Rev Genomics Hum Genet. 2014;15:195-213. doi: 10.1146/annurev-genom-090413-025600.

DOI:10.1146/annurev-genom-090413-025600
PMID:25184530
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10591257/
Abstract

Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

摘要

在过去几年中，基因工具和测序技术的进步极大地扩展了我们对神经发育障碍遗传学的理解。最近对结构性脑畸形、认知和神经精神疾病以及局限性皮质发育异常的高通量测序分析揭示了超越经典孟德尔遗传模式的多样遗传格局。神经发育障碍的潜在遗传原因涉及许多对正常大脑发育至关重要的细胞生物学途径。