Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes.
作者信息
Poot Martin
出版信息
Mol Syndromol. 2020 Feb;11(1):1-3. doi: 10.1159/000506410. Epub 2020 Feb 15.
Abstract
摘要
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本文引用的文献
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Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?双等位基因功能丧失可能是一种新综合征的基础：核孔蛋白188功能不全综合征？
Mol Syndromol. 2020 Jan;10(6):313-319. doi: 10.1159/000504818. Epub 2019 Dec 10.
2
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.用于导致类固醇抵抗性肾病综合征的 NUP93 内含子变异的分子检测。
J Hum Genet. 2019 Jul;64(7):673-679. doi: 10.1038/s10038-019-0606-4. Epub 2019 Apr 23.
3
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.NUP214 缺乏症导致人类严重的脑病和小头畸形。
Hum Genet. 2019 Mar;138(3):221-229. doi: 10.1007/s00439-019-01979-w. Epub 2019 Feb 13.
4
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.核孔蛋白 NUP88 的双等位基因突变导致致命性胎儿运动障碍畸形序列。
PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec.
5
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.NUP133 中纯合剪接突变导致 Galloway-Mowat 综合征。
Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370.
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NUP155 insufficiency recalibrates a pluripotent transcriptome with network remodeling of a cardiogenic signaling module.NUP155功能不足通过心脏发生信号模块的网络重塑来重新校准多能转录组。
BMC Syst Biol. 2018 May 30;12(1):62. doi: 10.1186/s12918-018-0590-x.
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Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.全外显子组测序鉴定出心血管疾病患者核膜基因中的截短变异体。
Circ Cardiovasc Genet. 2017 Jun;10(3). doi: 10.1161/CIRCGENETICS.116.001443.
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Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.某基因的纯合突变导致小头畸形并伴有类似于加洛韦 - 莫瓦特综合征的类固醇抵抗性肾病。
J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9.
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Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.先天性心脏病遗传学揭示了纤毛处核孔蛋白的上下文依赖性组织和功能。
Dev Cell. 2016 Sep 12;38(5):478-92. doi: 10.1016/j.devcel.2016.08.002. Epub 2016 Sep 1.
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Nucleoporin genes in human diseases.人类疾病中的核孔蛋白基因。
Eur J Hum Genet. 2016 Oct;24(10):1388-95. doi: 10.1038/ejhg.2016.25. Epub 2016 Apr 13.
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