A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.
作者信息
Yu Xiuya, Hu Liyuan, Liu Xu, Zhan Guodong, Mei Mei, Wang Huijun, Zhang Xiaohua, Qiu Zilong, Zhou Wenhao, Yang Lin
机构信息
Department of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, 201102, China.
出版信息
Neurosci Bull. 2018 Oct;34(5):854-858. doi: 10.1007/s12264-018-0236-4. Epub 2018 May 21.
Abstract
摘要
相似文献
1
A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.一种与智力残疾相关的新型MYCN变体调节神经元发育。
Neurosci Bull. 2018 Oct;34(5):854-858. doi: 10.1007/s12264-018-0236-4. Epub 2018 May 21.
2
GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION.费因戈尔德综合征的遗传咨询与一种新突变
Genet Couns. 2016;27(3):381-384.
3
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.11 例 1 型 Feingold 综合征患者的临床和分子特征：严重表型患者选择诊断标准和进一步基因检测的建议。
Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14.
4
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.一种新的 MYCN 基因突变导致先天性拇长屈肌腱缺失，作为 1 型 Feingold 综合征的一种不常见表现。
Clin Dysmorphol. 2021 Apr 1;30(2):71-75. doi: 10.1097/MCD.0000000000000342.
5
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.包括MYCN在内的2p缺失患者中，费因戈尔德综合征1的特征占主导。
Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8.
6
Distinct molecular pathways mediate Mycn and Myc-regulated miR-17-92 microRNA action in Feingold syndrome mouse models.不同的分子途径介导 Feingold 综合征小鼠模型中 Mycn 和 Myc 调节的 miR-17-92 微 RNA 作用。
Nat Commun. 2018 Apr 10;9(1):1352. doi: 10.1038/s41467-018-03788-7.
7
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.一名患有双侧听力障碍、小头畸形、手指异常和费因戈尔德综合征的女孩，其2号染色体短臂2区4带3亚带至2区4带2亚带存在一个4.4兆碱基的新发微缺失。
Eur J Med Genet. 2012 Nov;55(11):666-9. doi: 10.1016/j.ejmg.2012.07.003. Epub 2012 Jul 25.
8
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.一名患有费因戈尔德综合征2型的患者发生了从头13q31.1-q32.1间质性缺失，该缺失区域包含miR-17-92簇。
Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12.
9
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.功能获得性 MYCN 导致巨脑-多指（趾）综合征，表现为 Feingold 综合征的镜像表型。
HGG Adv. 2023 Oct 12;4(4):100238. doi: 10.1016/j.xhgg.2023.100238. Epub 2023 Sep 14.
10
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.对一名患有2型费因戈尔德综合征的3个月大婴儿进行掌指纹型分析。
Am J Med Genet A. 2021 Mar;185(3):952-954. doi: 10.1002/ajmg.a.62038. Epub 2020 Dec 27.
引用本文的文献
1
Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.与产前和产后羟考酮暴露相关的独特突触小泡蛋白质组学特征。
Cells. 2022 May 25;11(11):1740. doi: 10.3390/cells11111740.
2
Molecular mechanisms underlying nuchal hump formation in dolphin cichlid, Cyrtocara moorii.海豚慈鲷（Cyrtocara moorii）颈隆突形成的分子机制。
Sci Rep. 2019 Dec 30;9(1):20296. doi: 10.1038/s41598-019-56771-7.
本文引用的文献
1
Ubiquitin E3 ligase Nedd4-1 acts as a downstream target of PI3K/PTEN-mTORC1 signaling to promote neurite growth.泛素E3连接酶Nedd4-1作为PI3K/PTEN-mTORC1信号传导的下游靶点，促进神经突生长。
Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13205-10. doi: 10.1073/pnas.1400737111. Epub 2014 Aug 25.
2
The Yin and Yang of Wnt/Ryk axon guidance in development and regeneration.Wnt/Ryk 轴突导向在发育和再生中的阴阳两面。
Sci China Life Sci. 2014 Apr;57(4):366-71. doi: 10.1007/s11427-014-4640-3. Epub 2014 Mar 18.
3
Axonal deficits in young adults with High Functioning Autism and their impact on processing speed.高功能自闭症青年成人的轴突缺陷及其对处理速度的影响。
Neuroimage Clin. 2014 Feb 7;4:417-25. doi: 10.1016/j.nicl.2014.01.014. eCollection 2014.
4
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.MEGF8 多结构域蛋白突变鉴定出一种 Carpenter 综合征亚型，该亚型与侧化缺陷有关。
Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.
5
CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.CDKL5是一种新的受MYCN抑制的基因，它可阻断细胞周期并促进神经元细胞分化。
Biochim Biophys Acta. 2012 Nov-Dec;1819(11-12):1173-85. doi: 10.1016/j.bbagrm.2012.08.001. Epub 2012 Aug 19.
6
Exome sequencing identifies PDE4D mutations in acrodysostosis.外显子组测序鉴定肢端发育不良症中的 PDE4D 突变。
Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29.
7
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.外显子组测序发现 PDE4D 突变是肢端发育异常的另一个原因。
Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.
8
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.Feingold 综合征和孤立性食管闭锁中 MYCN 基因座的解剖。
Eur J Hum Genet. 2011 May;19(5):602-6. doi: 10.1038/ejhg.2010.225. Epub 2011 Jan 12.
9
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation.p53和Pten控制神经及胶质瘤干细胞/祖细胞的更新与分化。
Nature. 2008 Oct 23;455(7216):1129-33. doi: 10.1038/nature07443.
10
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.在散发性和家族性病例（包括同卵双胞胎）中，费因戈尔德综合征与两个新的MYCN突变相关。
Am J Med Genet A. 2008 Sep 1;146A(17):2304-7. doi: 10.1002/ajmg.a.32444.
Zotero 插件