Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
作者信息
Li Pei, Maitra Dhiman, Kuo Ning, Bonkovsky Herbert L, Omary M Bishr
机构信息
Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ; and.
Gastroenterology & Hepatology and Molecular Medicine & Translational Science, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC.
出版信息
Blood Adv. 2021 Jan 12;5(1):12-15. doi: 10.1182/bloodadvances.2020003150.
Abstract
摘要
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本文引用的文献
1
Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury.卟啉诱导的蛋白氧化和聚集作为卟啉病相关细胞损伤的机制。
Cell Mol Gastroenterol Hepatol. 2019;8(4):535-548. doi: 10.1016/j.jcmgh.2019.06.006. Epub 2019 Jun 21.
2
Oxygen and Conformation Dependent Protein Oxidation and Aggregation by Porphyrins in Hepatocytes and Light-Exposed Cells.卟啉在肝细胞和受光照细胞中对氧和构象依赖的蛋白质氧化和聚集的作用。
Cell Mol Gastroenterol Hepatol. 2019;8(4):659-682.e1. doi: 10.1016/j.jcmgh.2019.05.010. Epub 2019 Jun 4.
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Acute Hepatic Porphyrias: Review and Recent Progress.急性肝卟啉病：综述与最新进展
Hepatol Commun. 2018 Dec 20;3(2):193-206. doi: 10.1002/hep4.1297. eCollection 2019 Feb.
4
Loss of hepatocyte β-catenin protects mice from experimental porphyria-associated liver injury.肝细胞β-连环蛋白缺失可保护小鼠免于实验性卟啉病相关肝损伤。
J Hepatol. 2019 Jan;70(1):108-117. doi: 10.1016/j.jhep.2018.09.023. Epub 2018 Oct 1.
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Porphyria.卟啉病
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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.急性间歇性卟啉症：HMBS基因变异的预测致病性表明常染色体显性疾病的外显率极低。
Hum Mutat. 2016 Nov;37(11):1215-1222. doi: 10.1002/humu.23067. Epub 2016 Sep 5.
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The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.遗传性卟啉症的严重程度受卟啉输出蛋白和 Lan 抗原 ABCB6 调节。
Nat Commun. 2016 Aug 10;7:12353. doi: 10.1038/ncomms12353.
8
A precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and multiorganelle stress.一种具有肝蛋白聚集和多细胞器应激的急性原卟啉症前体诱导斑马鱼模型。
FASEB J. 2016 May;30(5):1798-810. doi: 10.1096/fj.201500111R. Epub 2016 Feb 2.
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Tumor-selective proteotoxicity of verteporfin inhibits colon cancer progression independently of YAP1.维替泊芬的肿瘤选择性蛋白毒性独立于YAP1抑制结肠癌进展。
Sci Signal. 2015 Oct 6;8(397):ra98. doi: 10.1126/scisignal.aac5418.
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Br J Dermatol. 2016 Jan;174(1):172-5. doi: 10.1111/bjd.14078. Epub 2015 Nov 7.
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