Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
作者信息
Fox J W, Walsh C A
机构信息
Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, USA.
出版信息
Am J Hum Genet. 1999 Jul;65(1):19-24. doi: 10.1086/302474.
Abstract
摘要
相似文献
1
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.脑室周围异位症与大脑皮质神经元迁移的遗传学
Am J Hum Genet. 1999 Jul;65(1):19-24. doi: 10.1086/302474.
2
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.细丝蛋白1的突变会阻止人类脑室周围异位症中大脑皮质神经元的迁移。
Neuron. 1998 Dec;21(6):1315-25. doi: 10.1016/s0896-6273(00)80651-0.
3
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.患有脑室周围异位症男性中FLN1的种系和嵌合突变。
Neurology. 2004 Jul 13;63(1):51-6. doi: 10.1212/01.wnl.0000132818.84827.4d.
4
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.X连锁丝状肌动蛋白1基因的突变会导致男性和女性出现室管膜下结节性异位。
Hum Mol Genet. 2001 Aug 15;10(17):1775-83. doi: 10.1093/hmg/10.17.1775.
5
Periventricular nodular heterotopia: report of a pediatric series.室周结节性异位：一组儿科病例报告
J Child Neurol. 2002 Apr;17(4):300-4. doi: 10.1177/088307380201700413.
6
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.ARFGEF2与细丝蛋白A在侧脑室神经室管膜衬里中的重叠表达：对室周异位症病因的见解
J Comp Neurol. 2006 Jan 20;494(3):476-84. doi: 10.1002/cne.20806.
7
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.由于细丝蛋白1基因突变导致的双侧脑室周围结节性异位：大脑皮层广泛的肾小球样微血管异常和发育异常的细胞结构。
Acta Neuropathol. 2002 Dec;104(6):649-57. doi: 10.1007/s00401-002-0594-9. Epub 2002 Jul 23.
8
Autosomal recessive form of periventricular heterotopia.室周异位的常染色体隐性遗传形式。
Neurology. 2003 Apr 8;60(7):1108-12. doi: 10.1212/01.wnl.0000055898.00349.02.
9
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.细丝蛋白A的突变会导致男性出现室周异位、发育倒退和韦斯特综合征。
Epilepsia. 2006 Jan;47(1):211-4. doi: 10.1111/j.1528-1167.2006.00390.x.
10
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.室周异位症中沿脑室和脑室下区的神经祖细胞破坏。
Hum Mol Genet. 2009 Feb 1;18(3):497-516. doi: 10.1093/hmg/ddn377. Epub 2008 Nov 7.
引用本文的文献
1
Meningeal Bmps Regulate Cortical Layer Formation.脑膜骨形态发生蛋白调节皮质层形成。
Brain Plast. 2018 Dec 26;4(2):169-183. doi: 10.3233/BPL-170048.
2
Nervous System Malformations.神经系统畸形
Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561.
3
Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.皮质发育与疾病中的细胞骨架蛋白：室管膜下异位中的肌动蛋白相关蛋白
Front Cell Neurosci. 2015 Apr 1;9:99. doi: 10.3389/fncel.2015.00099. eCollection 2015.
4
LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules.LIS1与双皮质素：与微管相关的脑发育及人类疾病研究启示
Scientifica (Cairo). 2013;2013:393975. doi: 10.1155/2013/393975. Epub 2013 Mar 17.
5
Brefeldin A-inhibited guanine exchange factor 2 regulates filamin A phosphorylation and neuronal migration.布雷菲德菌素 A 抑制的鸟嘌呤交换因子 2 调节细丝蛋白 A 的磷酸化和神经元迁移。
J Neurosci. 2012 Sep 5;32(36):12619-29. doi: 10.1523/JNEUROSCI.1063-12.2012.
6
Filamin A controls matrix metalloproteinase activity and regulates cell invasion in human fibrosarcoma cells.细丝蛋白 A 控制基质金属蛋白酶活性并调节人纤维肉瘤细胞的细胞侵袭。
J Cell Sci. 2012 Aug 15;125(Pt 16):3858-69. doi: 10.1242/jcs.104018. Epub 2012 May 17.
7
Wnt signaling regulates neuronal differentiation of cortical intermediate progenitors.Wnt 信号调节皮质中间祖细胞的神经元分化。
J Neurosci. 2011 Feb 2;31(5):1676-87. doi: 10.1523/JNEUROSCI.5404-10.2011.
8
Filamin A is essential for active cell stiffening but not passive stiffening under external force.细丝蛋白A对于细胞主动变硬至关重要，但在外部力量作用下对被动变硬并非如此。
Biophys J. 2009 May 20;96(10):4326-35. doi: 10.1016/j.bpj.2009.02.035.
9
Polarity regulation in migrating neurons in the cortex.皮层中迁移神经元的极性调控。
Mol Neurobiol. 2009 Aug;40(1):1-14. doi: 10.1007/s12035-009-8065-0. Epub 2009 Mar 28.
10
Histogenetic processes leading to the laminated neocortex: migration is only a part of the story.导致分层新皮质的组织发生过程：迁移只是其中一部分。
Dev Neurosci. 2008;30(1-3):82-95. doi: 10.1159/000109854.
本文引用的文献
1
Learning from the slime mold: Dictyostelium and human disease.向黏菌学习：盘基网柄菌与人类疾病
Am J Hum Genet. 1999 Jul;65(1):25-30. doi: 10.1086/302476.
2
Reelin-induced tyrosine [corrected] phosphorylation of disabled 1 during neuronal positioning.在神经元定位过程中，Reelin诱导的Disabled 1酪氨酸[校正后]磷酸化。
Genes Dev. 1999 Mar 15;13(6):643-8. doi: 10.1101/gad.13.6.643.
3
Distinct functions of alpha3 and alpha(v) integrin receptors in neuronal migration and laminar organization of the cerebral cortex.α3和α(v)整合素受体在神经元迁移和大脑皮质分层组织中的不同功能。
Neuron. 1999 Feb;22(2):277-89. doi: 10.1016/s0896-6273(00)81089-2.
4
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.双皮质综合征患者中双皮质素基因突变的特征分析。
Ann Neurol. 1999 Feb;45(2):146-53. doi: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n.
5
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.细丝蛋白1的突变会阻止人类脑室周围异位症中大脑皮质神经元的迁移。
Neuron. 1998 Dec;21(6):1315-25. doi: 10.1016/s0896-6273(00)80651-0.
6
Nuclear migration, nucleokinesis and lissencephaly.核迁移、核运动与无脑回畸形
Trends Cell Biol. 1998 Dec;8(12):467-70. doi: 10.1016/s0962-8924(98)01389-0.
7
[Role of the multifunctional Trio protein in the control of the Rac1 and RhoA gtpase signaling pathways].[多功能Trio蛋白在Rac1和RhoA小G蛋白信号通路调控中的作用]
C R Seances Soc Biol Fil. 1998;192(2):367-74.
8
The p35/Cdk5 kinase is a neuron-specific Rac effector that inhibits Pak1 activity.p35/Cdk5激酶是一种神经元特异性Rac效应蛋白，可抑制Pak1活性。
Nature. 1998 Sep 10;395(6698):194-8. doi: 10.1038/26034.
9
Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction.细丝蛋白与β1整合素的胞质结构域结合。负责这种相互作用的氨基酸的鉴定。
J Biol Chem. 1998 Sep 4;273(36):23304-12. doi: 10.1074/jbc.273.36.23304.
10
Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain.Disabled-1在一条控制哺乳动物大脑分层组织的信号通路中，作用于Reelin的下游。
Development. 1998 Sep;125(18):3719-29. doi: 10.1242/dev.125.18.3719.
Zotero 插件