Clinical utility gene card for: Tangier disease.
作者信息
Hooper Amanda J, McCormick Sally P A, Hegele Robert A, Burnett John R
机构信息
Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.
School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
出版信息
Eur J Hum Genet. 2017 Jun;25(7):e1-3. doi: 10.1038/ejhg.2017.72. Epub 2017 May 24.
Abstract
摘要
相似文献
1
Clinical utility gene card for: Tangier disease.丹吉尔病临床实用基因卡片
Eur J Hum Genet. 2017 Jun;25(7):e1-3. doi: 10.1038/ejhg.2017.72. Epub 2017 May 24.
2
Unusual yellow scaly colonic mucosal appearance: Tangier disease.异常黄色鳞状结肠黏膜外观：Tangier病
Gastrointest Endosc. 2018 Jul;88(1):193-195. doi: 10.1016/j.gie.2018.01.011. Epub 2018 Jan 17.
3
Tangier disease: update for 2020.丹吉尔病：2020年最新进展
Curr Opin Lipidol. 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669.
4
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.一个 ABCA1 基因的新型剪接突变，导致一个大家族中出现 Tangier 病和家族性 HDL 缺乏症。
Biochem Biophys Res Commun. 2019 Jan 8;508(2):487-493. doi: 10.1016/j.bbrc.2018.11.064. Epub 2018 Nov 30.
5
A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia.一名无症状伴严重低α脂蛋白血症男子的 ABCA1 新型纯合变异。
J Clin Lipidol. 2018 Jul-Aug;12(4):878-882. doi: 10.1016/j.jacl.2018.04.005. Epub 2018 Apr 21.
6
[Homozygous ABCA1 gene mutated Tangier disease complicated with diabetes mellitus: a case report].纯合子ABCA1基因突变型丹吉尔病合并糖尿病：一例报告
Zhonghua Nei Ke Za Zhi. 2024 Sep 1;63(9):874-875. doi: 10.3760/cma.j.cn112138-20240129-00084.
7
[Valve Replacement for Severe Aortic Stenosis in a Patient with Tangier Disease].[丹吉尔病患者严重主动脉瓣狭窄的瓣膜置换术]
Kyobu Geka. 2017 Aug;70(9):762-764.
8
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.一种新的 ABCA1 基因突变导致了 Tangier 病的非典型表型。
J Clin Lipidol. 2013 Jan-Feb;7(1):82-7. doi: 10.1016/j.jacl.2012.09.004. Epub 2012 Sep 29.
9
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.全外显子组测序结合整合变异注释预测鉴定出 ABCA1 基因复合杂合突变的无症状 Tangier 病。
Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003. Epub 2015 Apr 7.
10
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.一名表现为周围神经病变的青春期女孩的Tangier病的临床、电诊断和遗传特征
Neuropediatrics. 2015 Dec;46(6):420-3. doi: 10.1055/s-0035-1565275. Epub 2015 Oct 19.
引用本文的文献
1
Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.丹吉尔病中的脂质代谢失调：病例系列与代谢特征分析
J Clin Endocrinol Metab. 2025 Mar 3. doi: 10.1210/clinem/dgaf131.
2
Role of in Atherosclerosis: Novel Mutations and Potential Plant-derived Therapies.[具体物质]在动脉粥样硬化中的作用：新突变与潜在的植物源疗法。 （注：原文中“Role of in”这里的空格处应该有具体物质未给出）
Curr Med Chem. 2025;32(11):2069-2092. doi: 10.2174/0109298673291917240315113845.
3
A rare case of nephrotic syndrome and Tangier disease.一例罕见的肾病综合征合并 Tangier 病。
CEN Case Rep. 2023 Aug;12(3):265-269. doi: 10.1007/s13730-022-00761-8. Epub 2022 Dec 10.
4
Current Diagnosis and Management of Tangier Disease.《Tangier 病的当前诊断与管理》
J Atheroscler Thromb. 2021 Aug 1;28(8):802-810. doi: 10.5551/jat.RV17053. Epub 2021 May 14.
本文引用的文献
1
Diagnosis and treatment of high density lipoprotein deficiency.高密度脂蛋白缺乏症的诊断与治疗
Prog Cardiovasc Dis. 2016 Sep-Oct;59(2):97-106. doi: 10.1016/j.pcad.2016.08.006. Epub 2016 Aug 24.
2
Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.西方脂质变异数据库 (WDLV)：单基因血脂异常遗传变异目录。
Can J Cardiol. 2013 Aug;29(8):934-9. doi: 10.1016/j.cjca.2013.01.008. Epub 2013 Apr 24.
3
Approach to the patient with extremely low HDL-cholesterol.极低高密度脂蛋白胆固醇血症患者的处理方法。
J Clin Endocrinol Metab. 2012 Oct;97(10):3399-407. doi: 10.1210/jc.2012-2185.
4
Marked HDL deficiency and premature coronary heart disease.显著的高密度脂蛋白缺陷与过早的冠心病。
Curr Opin Lipidol. 2010 Aug;21(4):289-97. doi: 10.1097/MOL.0b013e32833c1ef6.
5
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.ABCA1中的特定突变在体内和体外对ABCA1功能及脂质表型均有不同影响。
Circ Res. 2006 Aug 18;99(4):389-97. doi: 10.1161/01.RES.0000237920.70451.ad. Epub 2006 Jul 27.
6
Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.ABCA1最大的细胞外环中自然发生的突变可破坏其与载脂蛋白A-I的直接相互作用。
J Biol Chem. 2002 Sep 6;277(36):33178-87. doi: 10.1074/jbc.M204996200. Epub 2002 Jun 25.
7
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.丹吉尔病由编码ATP结合盒转运体1的基因突变引起。
Nat Genet. 1999 Aug;22(4):352-5. doi: 10.1038/11921.
8
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.编码ATP结合盒转运体1的基因在丹吉尔病中发生突变。
Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914.
9
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.丹吉尔病和家族性高密度脂蛋白缺乏症中ABC1基因的突变。
Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905.
10
Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).家族性高密度脂蛋白缺乏症（丹吉尔病）中的冠心病患病率及其他临床特征。
Ann Intern Med. 1980 Aug;93(2):261-6. doi: 10.7326/0003-4819-93-2-261.
Zotero 插件