Fifty years in human genetics--a career retrospective.
作者信息
Kazazian Haig H
机构信息
Institute for Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
出版信息
FASEB J. 2017 Sep;31(9):3712-3718. doi: 10.1096/fj.201700502RR.
Abstract
摘要
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本文引用的文献
1
L1-associated genomic regions are deleted in somatic cells of the healthy human brain.在健康人类大脑的体细胞中，L1相关的基因组区域被删除。
Nat Neurosci. 2016 Dec;19(12):1583-1591. doi: 10.1038/nn.4388. Epub 2016 Sep 12.
2
LINE-1 expression and retrotransposition in Barrett's esophagus and esophageal carcinoma.巴雷特食管和食管癌中LINE-1的表达及逆转录转座
Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):E4894-900. doi: 10.1073/pnas.1502474112. Epub 2015 Aug 17.
3
Widespread somatic L1 retrotransposition occurs early during gastrointestinal cancer evolution.广泛的体细胞L1逆转录转座在胃肠道癌发生早期就会出现。
Genome Res. 2015 Oct;25(10):1536-45. doi: 10.1101/gr.196238.115. Epub 2015 Aug 10.
4
Ubiquitous L1 mosaicism in hippocampal neurons.海马神经元中普遍存在的L1镶嵌现象。
Cell. 2015 Apr 9;161(2):228-39. doi: 10.1016/j.cell.2015.03.026.
5
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.单细胞测序分析人类大脑中的 L1 逆转录转座和体细胞突变。
Cell. 2012 Oct 26;151(3):483-96. doi: 10.1016/j.cell.2012.09.035.
6
Somatic retrotransposition alters the genetic landscape of the human brain.体细胞逆转座子改变了人类大脑的遗传景观。
Nature. 2011 Oct 30;479(7374):534-7. doi: 10.1038/nature10531.
7
Natural mutagenesis of human genomes by endogenous retrotransposons.内源性逆转录转座子对人类基因组的自然突变。
Cell. 2010 Jun 25;141(7):1253-61. doi: 10.1016/j.cell.2010.05.020.
8
Mobile interspersed repeats are major structural variants in the human genome.移动散布重复序列是人类基因组中的主要结构变异。
Cell. 2010 Jun 25;141(7):1171-82. doi: 10.1016/j.cell.2010.05.026.
9
LINE-1 retrotransposition activity in human genomes.LINE-1 逆转座子在人类基因组中的活性。
Cell. 2010 Jun 25;141(7):1159-70. doi: 10.1016/j.cell.2010.05.021.
10
High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes.高通量测序揭示了个体人类基因组中人类特异性 L1 含量的广泛变异。
Genome Res. 2010 Sep;20(9):1262-70. doi: 10.1101/gr.106419.110. Epub 2010 May 20.
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