α1-抗胰蛋白酶缺乏症、肺气肿与肝脏疾病。遗传基础及治疗策略。 - Suppr

Suppr

超能文献

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.

作者信息

Crystal R G

机构信息

Pulmonary Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.

出版信息

J Clin Invest. 1990 May;85(5):1343-52. doi: 10.1172/JCI114578.

DOI:10.1172/JCI114578

PMID:2185272

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC296579/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b8/296579/cb2355f09dac/jcinvest00071-0013-a.jpg

相似文献

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.α1-抗胰蛋白酶缺乏症、肺气肿与肝脏疾病。遗传基础及治疗策略。

J Clin Invest. 1990 May;85(5):1343-52. doi: 10.1172/JCI114578.

The alpha 1-antitrypsin gene and its deficiency states.α1-抗胰蛋白酶基因及其缺陷状态。

Trends Genet. 1989 Dec;5(12):411-7. doi: 10.1016/0168-9525(89)90200-x.

Alpha-1-antitrypsin deficiency: diagnosis and treatment.α-1抗胰蛋白酶缺乏症：诊断与治疗

Clin Liver Dis. 2004 Nov;8(4):839-59, viii-ix. doi: 10.1016/j.cld.2004.06.001.

Clinical manifestations of alpha 1-antitrypsin deficiency.α1-抗胰蛋白酶缺乏症的临床表现。

Gastroenterol Clin North Am. 1995 Mar;24(1):27-43.

An overview of the pulmonary features of alpha 1-antitrypsin deficiency.α1 -抗胰蛋白酶缺乏症的肺部特征概述。

Arch Intern Med. 1982 Jul;142(7):1342-8.

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.由α1-抗胰蛋白酶Nullmattawa基因引起的α1-抗胰蛋白酶缺乏症。一种插入突变，使α1-抗胰蛋白酶基因无法产生α1-抗胰蛋白酶。

J Clin Invest. 1989 Apr;83(4):1144-52. doi: 10.1172/JCI113994.

The molecular pathology of human alpha 1-antitrypsin.人类α1-抗胰蛋白酶的分子病理学

Biochem Soc Symp. 1984;49:55-66.

alpha-1-Antitrypsin deficiency: associated diseases and their treatment.

Prog Clin Biol Res. 1979;34:265-70.

[From gene disease; alpha1-antitrypsine deficiency].[源自基因疾病；α1-抗胰蛋白酶缺乏症]

Ned Tijdschr Geneeskd. 2003 Apr 19;147(16):758-60.

[Alpha 1-antitrypsin deficiency].[α1-抗胰蛋白酶缺乏症]

Duodecim. 1993;109(11):963-9.

引用本文的文献

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.毛发-肝脏-肠道综合征的孕中期超声检查结果：一例报告。

Biomed Rep. 2025 May 2;23(1):110. doi: 10.3892/br.2025.1988. eCollection 2025 Jul.

Clinical and Economic Outcomes in Patients With Alpha-1 Antitrypsin Deficiency in a US Medicare Advantage Population.美国医疗保险优势人群中α-1抗胰蛋白酶缺乏症患者的临床和经济结局

J Health Econ Outcomes Res. 2025 Feb 20;12(1):66-74. doi: 10.36469/001c.127446. eCollection 2025.

Higher healthcare cost and utilization before and after diagnosis of AATD in the United States.美国 AATD 诊断前后医疗保健费用和利用的增加。

BMC Pulm Med. 2024 Nov 16;24(1):570. doi: 10.1186/s12890-024-03396-w.

Alpha-1 antitrypsin inhibits pertussis toxin.α1抗胰蛋白酶抑制百日咳毒素。

J Biol Chem. 2024 Dec;300(12):107950. doi: 10.1016/j.jbc.2024.107950. Epub 2024 Oct 30.

Alpha-1 antitrypsin inhibits Clostridium botulinum C2 toxin, Corynebacterium diphtheriae diphtheria toxin and B. anthracis fusion toxin.α-1 抗胰蛋白酶能抑制肉毒梭菌 C2 毒素、白喉棒状杆菌白喉毒素和炭疽杆菌融合毒素。

Sci Rep. 2024 Sep 11;14(1):21257. doi: 10.1038/s41598-024-71706-7.

Posttransplant Lymphoproliferative Disorder in a Patient With Alpha-1 Antitrypsin Deficiency: A Case Report.α-1抗胰蛋白酶缺乏症患者的移植后淋巴细胞增生性疾病：一例报告

Cureus. 2024 Jun 10;16(6):e62107. doi: 10.7759/cureus.62107. eCollection 2024 Jun.

Assessing the efficacy of Alpha-Proteinase inhibitor (human) augmentation therapy for Alpha-Antitrypsin deficiency - Related emphysema: Challenges and opportunities.评估α-蛋白酶抑制剂（人）增强疗法对α-抗胰蛋白酶缺乏症相关肺气肿的疗效：挑战与机遇。

Heliyon. 2024 May 23;10(11):e31183. doi: 10.1016/j.heliyon.2024.e31183. eCollection 2024 Jun 15.

Macrophage Polarization and Functions in Pathogenesis of Chronic Obstructive Pulmonary Disease.巨噬细胞极化及其在慢性阻塞性肺疾病发病机制中的作用。

Int J Mol Sci. 2024 May 22;25(11):5631. doi: 10.3390/ijms25115631.

Alpha-1 Antitrypsin Augmentation Therapy in Chronic Pancreatitis Patients Undergoing Total Pancreatectomy and Islet Autotransplantation: A Randomized, Controlled Study.α-1抗胰蛋白酶增强疗法用于接受全胰切除术和胰岛自体移植的慢性胰腺炎患者：一项随机对照研究。

Cell Transplant. 2024 Jan-Dec;33:9636897241243014. doi: 10.1177/09636897241243014.

Safety and Reactogenicity of COVID-19 Vaccination in Severe Alpha-1 Antitrypsin Deficiency.新冠病毒疫苗在严重α-1抗胰蛋白酶缺乏症患者中的安全性和反应原性

Chronic Obstr Pulm Dis. 2024 Jan 25;11(1):3-12. doi: 10.15326/jcopdf.2023.0432.

本文引用的文献

Structure and variation of human alpha 1-antitrypsin.人类α1-抗胰蛋白酶的结构与变异

Nature. 1982 Jul 22;298(5872):329-34. doi: 10.1038/298329a0.

Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects.α1-抗胰蛋白酶缺乏症的替代疗法。纠正PiZ型受试者肺泡结构内蛋白酶-抗蛋白酶失衡。

J Clin Invest. 1981 Nov;68(5):1158-65. doi: 10.1172/jci110360.

Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function.人α1-蛋白酶抑制剂。两种晶体变体的晶体结构分析、分子模型及功能影响的初步分析。

J Mol Biol. 1984 Aug 15;177(3):531-57.

Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema.人类肺泡结构的抗弹性蛋白酶。对肺气肿蛋白酶-抗蛋白酶理论的启示。

J Clin Invest. 1981 Oct;68(4):889-98. doi: 10.1172/jci110344.

Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant.人α1-抗胰蛋白酶cDNA及S变异体基因的完整序列

Biochemistry. 1984 Oct 9;23(21):4828-37. doi: 10.1021/bi00316a003.

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.与α-1抗胰蛋白酶缺乏症相关的肝硬化：一种先前未被认识的遗传性疾病。

J Lab Clin Med. 1969 Jun;73(6):934-9.

Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis.弹性蛋白酶与肺气肿。蛋白酶-抗蛋白酶假说的当前评估。

Am Rev Respir Dis. 1985 Aug;132(2):417-33. doi: 10.1164/arrd.1985.132.2.417.

Synthesis in E. coli of alpha 1-antitrypsin variants of therapeutic potential for emphysema and thrombosis.在大肠杆菌中合成对肺气肿和血栓形成具有治疗潜力的α1-抗胰蛋白酶变体。

Nature. 1985;313(5998):149-51. doi: 10.1038/313149a0.

alpha 1-Antitrypsin: molecular pathology, leukocytes, and tissue damage.α1-抗胰蛋白酶：分子病理学、白细胞与组织损伤

J Clin Invest. 1986 Dec;78(6):1427-31. doi: 10.1172/JCI112731.

Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.作为中性粒细胞弹性蛋白酶的抑制剂，Z型α1抗胰蛋白酶的活性不如M1型α1抗胰蛋白酶。

J Clin Invest. 1987 Nov;80(5):1366-74. doi: 10.1172/JCI113214.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验