史密斯-勒米-奥皮茨综合征：培养的皮肤成纤维细胞和绒毛膜绒毛成纤维细胞中δ7-还原酶活性缺乏及其在产前和产后检测中的应用。 - Suppr

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超能文献

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

作者信息

Wanders R J, Romeijn G J, Wijburg F, Hennekam R C, de Jong J, Wevers R A, Dacremont G

机构信息

University of Amsterdam, Department of Pediatrics, The Netherlands.

出版信息

J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822.

DOI:10.1023/a:1005371104822

PMID:9266374

Abstract

摘要

相似文献

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.史密斯-勒米-奥皮茨综合征：培养的皮肤成纤维细胞和绒毛膜绒毛成纤维细胞中δ7-还原酶活性缺乏及其在产前和产后检测中的应用。

J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822.

Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.经组织甾醇分析及绒毛膜绒毛中未检测到可测量的7-脱氢胆固醇Δ(7)-还原酶活性确诊为死胎合并史密斯-利姆利-奥皮茨综合征。

Prenat Diagn. 2000 Mar;20(3):238-40.

Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome.培养的人成纤维细胞中缺陷性3β-羟基甾醇Δ7-还原酶活性的检测：一种诊断史密斯-勒米-奥皮茨综合征的方法。

J Inherit Metab Dis. 1996;19(1):59-64. doi: 10.1007/BF01799349.

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).孕早期对史密斯-勒米-奥皮茨综合征（7-脱氢胆固醇还原酶缺乏症）的产前诊断。

Pediatr Res. 1996 May;39(5):816-9. doi: 10.1203/00006450-199605000-00012.

Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts.通过测量成纤维细胞中缺乏的7-脱氢胆固醇-δ7-还原酶活性快速鉴定史密斯-勒米-奥皮茨综合征纯合子和杂合子（携带者）。

Metabolism. 1997 Jul;46(7):844-50. doi: 10.1016/s0026-0495(97)90133-5.

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.一名患有史密斯-莱姆利-奥皮茨综合征的澳大利亚患者的Delta7-脱氢胆固醇还原酶基因中的新突变。

Am J Med Genet. 2001 Nov 1;103(4):344-7.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.史密斯-勒米-奥皮茨综合征由7-脱氢胆固醇还原酶基因突变引起。

Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982.

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.7-脱氢胆固醇还原酶与史密斯-勒米-奥皮茨综合征的生化及遗传学方面

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):340-56. doi: 10.1016/s1388-1981(00)00159-1.

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome.以麦角固醇为底物测定培养的皮肤成纤维细胞中3β-羟基类固醇Δ7-还原酶活性：一种诊断史密斯-勒米-奥皮茨综合征的新方法。

J Lipid Res. 1996 Nov;37(11):2433-8.

Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts.通过测量培养的皮肤成纤维细胞中麦角固醇C-7双键的还原速率来准确检测史密斯-利姆利-奥皮茨综合征携带者。

J Inherit Metab Dis. 1998 Oct;21(7):761-8. doi: 10.1023/a:1005401317306.

引用本文的文献

A physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humans.一种基于生理学的计算机内动力学模型，可预测人体血浆胆固醇浓度。

J Lipid Res. 2012 Dec;53(12):2734-46. doi: 10.1194/jlr.M031930. Epub 2012 Sep 29.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.史密斯-勒米-奥皮茨综合征由7-脱氢胆固醇还原酶基因突变引起。

Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982.

本文引用的文献

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.一种新发现的多发性先天性畸形综合征。

J Pediatr. 1964 Feb;64:210-7. doi: 10.1016/s0022-3476(64)80264-x.

J Inherit Metab Dis. 1996;19(1):59-64. doi: 10.1007/BF01799349.

Pediatr Res. 1996 May;39(5):816-9. doi: 10.1203/00006450-199605000-00012.

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.与史密斯-勒米-奥皮茨综合征相关的胆固醇生物合成缺陷。

N Engl J Med. 1994 Jan 13;330(2):107-13. doi: 10.1056/NEJM199401133300205.

Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.过氧化物酶体起源的代谢紊乱患者皮肤成纤维细胞中的胆固醇生物合成。

Eur J Clin Invest. 1995 Jan;25(1):59-67. doi: 10.1111/j.1365-2362.1995.tb01527.x.

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.史密斯-勒米-奥皮茨综合征中胆固醇生物合成缺陷

Lancet. 1993 May 29;341(8857):1414. doi: 10.1016/0140-6736(93)90983-n.

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.史密斯-勒米-奥皮茨综合征纯合子培养的皮肤成纤维细胞中7-脱氢胆固醇向胆固醇的转化存在缺陷。

J Lipid Res. 1995 Jul;36(7):1595-601.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.显著抑制了来自史密斯-利姆利-奥皮茨纯合子肝脏微粒体中的7-脱氢胆固醇-δ7-还原酶活性。

J Clin Invest. 1995 Oct;96(4):1779-85. doi: 10.1172/JCI118223.

Effects of BM 15.766 on serum lipids in rats.BM 15.766对大鼠血脂的影响。

Horm Metab Res. 1985 Oct;17(10):543-4. doi: 10.1055/s-2007-1013600.

The effects of BM 15.766, an inhibitor of 7-dehydrocholesterol delta 7-reductase, on cholesterol biosynthesis in primary rat hepatocytes.7-脱氢胆固醇δ7-还原酶抑制剂BM 15.766对原代大鼠肝细胞胆固醇生物合成的影响。

Biochem Pharmacol. 1986 Mar 15;35(6):911-6. doi: 10.1016/0006-2952(86)90076-6.

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