主动脉瘤的遗传病因。摒弃至少部分教科书上所讲的内容。 - Suppr

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.

作者信息

Kuivaniemi H, Tromp G, Prockop D J

机构信息

Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

出版信息

J Clin Invest. 1991 Nov;88(5):1441-4. doi: 10.1172/JCI115452.

DOI:10.1172/JCI115452

PMID:1939638

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC295644/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/6c078b93729e/jcinvest00064-0019-a.jpg

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Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.主动脉瘤的遗传病因。摒弃至少部分教科书上所讲的内容。

J Clin Invest. 1991 Nov;88(5):1441-4. doi: 10.1172/JCI115452.

[Are arterial aneurysms hereditary?].[动脉瘤具有遗传性吗？]

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The role of abnormal type III collagen in the development of common aneurysms.异常III型胶原蛋白在常见动脉瘤形成中的作用。

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New insights into the genetic basis of aortic aneurysms.主动脉瘤遗传基础的新见解。

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Editorial comment: genetic testing in aortic aneurysm disease.编辑评论：主动脉瘤疾病的基因检测

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Do aneurysms run in families?动脉瘤会在家族中遗传吗？

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Metallothionein link to bicuspid aortic valve-associated ascending aortic dilatation.

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The role of inheritance in the pathogenesis of abdominal aortic aneurysms.

J Ky Med Assoc. 1985 Nov;83(11):601-3.

Familial occurrence of abdominal aortic aneurysms.

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The role of lysyl oxidase family members in the stabilization of abdominal aortic aneurysms.赖氨酰氧化酶家族成员在稳定腹主动脉瘤中的作用。

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Group B streptococcus mycotic aneurysm of the abdominal aorta: report of a case and review of the literature.B 群链球菌致腹主动脉真菌性动脉瘤：1 例报告并文献复习。

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Expression and localization of macrophage elastase (matrix metalloproteinase-12) in abdominal aortic aneurysms.巨噬细胞弹性蛋白酶（基质金属蛋白酶-12）在腹主动脉瘤中的表达及定位

J Clin Invest. 1998 Dec 1;102(11):1900-10. doi: 10.1172/JCI2182.

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.对50名无亲缘关系患者的cDNA进行测序后发现，III型前胶原三螺旋结构域的突变是主动脉瘤的罕见病因。

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An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

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Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080).在稳定转染的肿瘤细胞系（HT1080）中重组人原胶原蛋白II的合成

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A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.原纤维蛋白-1基因的表皮生长因子样结构域中的Gly1127Ser突变是升主动脉瘤和主动脉夹层的一个危险因素。

Am J Hum Genet. 1995 Jun;56(6):1287-96.

本文引用的文献

Familial occurrence of abdominal aortic aneurysms.

Surgery. 1984 Jun;95(6):650-6.

Fifty families with abdominal aortic aneurysms in two or more first-order relatives.

Am J Surg. 1984 Apr;147(4):551-3. doi: 10.1016/0002-9610(84)90020-5.

Screening for abdominal aortic aneurysms.腹主动脉瘤筛查

Br J Surg. 1985 Nov;72(11):851-2. doi: 10.1002/bjs.1800721102.

[Increasing numbers of patients dying because of abdominal aortic aneurysm. Increased diagnostic sharpness is needed].[因腹主动脉瘤死亡的患者数量不断增加。需要提高诊断的准确性]

Lakartidningen. 1986 Sep 10;83(37):3010-2.

Familial tendency for abdominal aortic aneurysms.

JAMA. 1986 Oct 10;256(14):1934-6.

Co-existence of abdominal aortic aneurysms and intracranial aneurysms.腹主动脉瘤与颅内动脉瘤并存。

Acta Neurochir (Wien). 1987;87(1-2):34-9. doi: 10.1007/BF02076012.

Multifactorial inheritance of abdominal aortic aneurysm.

Eur J Vasc Surg. 1987 Feb;1(1):29-31. doi: 10.1016/s0950-821x(87)80020-8.

Multicenter prospective study of nonruptured abdominal aortic aneurysms. I. Population and operative management.非破裂性腹主动脉瘤的多中心前瞻性研究。I. 研究人群与手术治疗

J Vasc Surg. 1988 Jan;7(1):69-81.

Abdominal aortic aneurysm.腹主动脉瘤

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.用于镰状细胞贫血诊断的β-珠蛋白基因组序列的酶促扩增及限制性酶切位点分析。

Science. 1985 Dec 20;230(4732):1350-4. doi: 10.1126/science.2999980.

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Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.

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