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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/295644/150eef8de534/jcinvest00064-0019-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/6c078b93729e/jcinvest00064-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/b6c65e0b2f75/jcinvest00064-0019-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/6db207d271d8/jcinvest00064-0019-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/150eef8de534/jcinvest00064-0019-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/6c078b93729e/jcinvest00064-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/b6c65e0b2f75/jcinvest00064-0019-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/6db207d271d8/jcinvest00064-0019-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/799b/295644/150eef8de534/jcinvest00064-0019-d.jpg

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1
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.
2
[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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4
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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5
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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Atherosclerotic aortic-bisiliac aneurysms in two monocorial twins.
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9
The role of inheritance in the pathogenesis of abdominal aortic aneurysms.
J Ky Med Assoc. 1985 Nov;83(11):601-3.
10
Familial occurrence of abdominal aortic aneurysms.
Surgery. 1984 Jun;95(6):650-6.

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本文引用的文献

1
Familial occurrence of abdominal aortic aneurysms.
Surgery. 1984 Jun;95(6):650-6.
2
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.
3
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.
4
关节的机械冲击损失；突变斑马鱼表现出关节发育和功能的变化，导致早发性骨关节炎。
Philos Trans R Soc Lond B Biol Sci. 2018 Sep 24;373(1759):20170335. doi: 10.1098/rstb.2017.0335.
4
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。
Am J Physiol Heart Circ Physiol. 2012 Oct 15;303(8):H1067-75. doi: 10.1152/ajpheart.00217.2012. Epub 2012 Aug 17.
5
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。
Yale J Biol Med. 2012 Mar;85(1):97-104. Epub 2012 Mar 29.
6
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.
7
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。
J Clin Invest. 1993 Jun;91(6):2539-45. doi: 10.1172/JCI116490.
8
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.
J Clin Invest. 1993 Aug;92(2):582-95. doi: 10.1172/JCI116625.
9
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
Biochem J. 1994 Feb 15;298 ( Pt 1)(Pt 1):31-7. doi: 10.1042/bj2980031.
10
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.
[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.
5
Familial tendency for abdominal aortic aneurysms.
JAMA. 1986 Oct 10;256(14):1934-6.
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.
7
Multifactorial inheritance of abdominal aortic aneurysm.
Eur J Vasc Surg. 1987 Feb;1(1):29-31. doi: 10.1016/s0950-821x(87)80020-8.
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.
9
Abdominal aortic aneurysm.腹主动脉瘤
Br J Surg. 1988 Aug;75(8):733-6. doi: 10.1002/bjs.1800750804.
10
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.