遗传学：mTOR通路中的突变与巨头畸形综合征相关。 - Suppr

Suppr

超能文献

Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.

作者信息

Striano Pasquale, Zara Federico

出版信息

Nat Rev Neurol. 2012 Oct;8(10):542-4. doi: 10.1038/nrneurol.2012.178. Epub 2012 Aug 21.

DOI:10.1038/nrneurol.2012.178

PMID:22907262

Abstract

摘要

相似文献

Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.遗传学：mTOR通路中的突变与巨头畸形综合征相关。

Nat Rev Neurol. 2012 Oct;8(10):542-4. doi: 10.1038/nrneurol.2012.178. Epub 2012 Aug 21.

Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.与MTOR突变相关的巨头畸形-多小脑回-色素性斑驳综合征（MPPM）的新生儿期新表现：一例报告

Pediatr Dermatol. 2021 Mar;38(2):536-537. doi: 10.1111/pde.14480. Epub 2020 Dec 16.

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.用于诊断PI3K-AKT-mTOR通路相关巨头畸形的基因与生化分析相结合的方法

BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.MTOR 基因突变与发育性脑疾病的关联，包括巨脑症、局灶性皮质发育不良和色素镶嵌症。

JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.MTOR c.5930C > T(p.Thr1977Ile) 重复镶嵌变体导致巨脑畸形、不对称多小脑回和皮肤色素镶嵌：病例报告及文献复习。

Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19.

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.多小脑回畸形合并低血糖提示mTOR信号通路存在突变。

Eur J Med Genet. 2018 Dec;61(12):738-740. doi: 10.1016/j.ejmg.2018.06.002. Epub 2018 Jun 5.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.两例患有巨头畸形和神经发育异常的兄弟因生殖腺嵌合体出现种系激活型MTOR突变。

BMC Med Genet. 2015 Nov 5;16:102. doi: 10.1186/s12881-015-0240-8.

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.Smith-Kingsmore 综合征中 mTOR 基因突变：四位新病例及文献复习。

Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13.

Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.明确 Smith-Kingsmore 综合征表型：对 16 例携带 MTOR c.5395G > A p.(Glu1799Lys) 错义变异的患者进行研究。

Am J Med Genet A. 2021 Aug;185(8):2445-2454. doi: 10.1002/ajmg.a.62350. Epub 2021 May 25.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.患有智力障碍、畸形、巨头症和小胸廓的澳大利亚原住民兄弟姐妹中的种系MTOR突变。

Am J Med Genet A. 2015 Jul;167(7):1659-67. doi: 10.1002/ajmg.a.37070. Epub 2015 Apr 6.

引用本文的文献

mTOR signalling pathway - A root cause for idiopathic autism?mTOR 信号通路——特发性自闭症的根本原因？

BMB Rep. 2019 Jul;52(7):424-433. doi: 10.5483/BMBRep.2019.52.7.137.

Brain Organoids-A Bottom-Up Approach for Studying Human Neurodevelopment.脑类器官——一种用于研究人类神经发育的自下而上的方法。

Bioengineering (Basel). 2019 Jan 18;6(1):9. doi: 10.3390/bioengineering6010009.

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.靶向二代测序为相关性癫痫和心脏传导障碍/癫痫性猝死提供了新线索。

PLoS One. 2017 Dec 19;12(12):e0189618. doi: 10.1371/journal.pone.0189618. eCollection 2017.

Brain Development and Akt Signaling: the Crossroads of Signaling Pathway and Neurodevelopmental Diseases.大脑发育与Akt信号传导：信号通路与神经发育疾病的交叉点

J Mol Neurosci. 2017 Mar;61(3):379-384. doi: 10.1007/s12031-016-0872-y. Epub 2016 Dec 26.

NPAS1 represses the generation of specific subtypes of cortical interneurons.NPAS1抑制皮质中间神经元特定亚型的生成。

Neuron. 2014 Dec 3;84(5):940-53. doi: 10.1016/j.neuron.2014.10.040. Epub 2014 Nov 20.

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.积水性无脑畸形：脑脊液替代了大脑皮质。

Ital J Pediatr. 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1.

Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.癫痫发生机制：神经回路功能障碍的汇聚。

Nat Rev Neurosci. 2013 May;14(5):337-49. doi: 10.1038/nrn3482. Epub 2013 Apr 18.

Hemihydranencephaly: living with half brain dysfunction.无脑畸形伴单侧脑半球功能障碍：半脑功能障碍的生活。

Ital J Pediatr. 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3.

本文引用的文献

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.AKT3、PIK3R2 和 PIK3CA 中的新生种系和后成体突变导致一系列相关的巨脑畸形综合征。

Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.PI3K-AKT3-mTOR 通路组件中的从头发生的体细胞突变导致偏侧巨脑畸形。

Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.AKT3 的体细胞激活导致半球性脑发育畸形。

Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.

Targeting PI3 kinase/AKT/mTOR signaling in cancer.靶向癌症中的PI3激酶/AKT/mTOR信号通路。

Crit Rev Oncog. 2012;17(1):69-95. doi: 10.1615/critrevoncog.v17.i1.60.

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.巨脑-毛细血管畸形（MCAP）和巨脑-多趾-多小脑回-脑积水（MPPH）综合征：两种与脑过度生长和脑及身体形态发育异常相关的密切相关疾病。

Am J Med Genet A. 2012 Feb;158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.

Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.依维莫司：一种用于治疗结节性硬化症的 mTOR 抑制剂。

Expert Rev Anticancer Ther. 2011 Aug;11(8):1181-92. doi: 10.1586/era.11.93.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.AKT1 中的镶嵌激活突变与Proteus 综合征相关。

N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.

Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies.雷帕霉素靶蛋白（mTOR）抑制作为一种潜在的抗癫痫发生治疗：从结节性硬化症到常见的获得性癫痫。

Epilepsia. 2010 Jan;51(1):27-36. doi: 10.1111/j.1528-1167.2009.02341.x. Epub 2009 Oct 8.

Macrocephaly syndromes.

Semin Pediatr Neurol. 2007 Sep;14(3):128-35. doi: 10.1016/j.spen.2007.07.004.

Epidemiology of hemimegalencephaly: a case series and review.

Am J Med Genet A. 2005 Dec 15;139(3):204-11. doi: 10.1002/ajmg.a.31024.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验