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Updated: Jun 1, 2025

SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry
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SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry

Published on: January 6, 2017

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与NHEJ1基因突变相关的严重免疫缺陷谱:Cernunnos/XLF缺陷

Ana María Navarro1, Gabriela Mantilla1, Jorge Andrés Fernández1

  • 1Hospital Infantil Universitario de San José, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., Colombia.

Biomedica : revista del Instituto Nacional de Salud
|January 21, 2025
PubMed
概括

塞尔努诺斯/XLF缺陷是一种与NHEJ1基因相关的罕见联合免疫缺陷,具有独特的诊断挑战. 这份报告详细介绍了哥伦比亚一名20岁男性的异常罕见病例,强调了这种情况.

关键词:
严重的综合免疫缺陷.修复DNA末端连接的修复免疫遗传学 免疫遗传学遗传学 遗传学 遗传学 是一个遗传性 遗传性 遗传性综合征综合征是指一个综合征.

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Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models09:54

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Exon Recombination02:32

Exon Recombination

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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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