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Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.

作者信息

Maruo Yoshihiro, Verma Ishwar Chander, Matsui Katsuyuki, Takahashi Hiroko, Mimura Yu, Ota Yoriko, Mori Asami, Saxena Renu, Sato Hiroshi, Takeuchi Yoshihiro

机构信息

Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan.

出版信息

J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):308-11. doi: 10.1097/MPG.0b013e3181638c8b.

DOI:10.1097/MPG.0b013e3181638c8b
PMID:18376249
Abstract
摘要

相似文献

1
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):308-11. doi: 10.1097/MPG.0b013e3181638c8b.
2
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.克里格勒-纳贾尔综合征II型可能由UGT1A1基因突变的几种类型及其组合引起。
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3
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.克里格勒-纳贾尔（CN）综合征患者中UGT1A1基因突变谱：十二个新等位基因的鉴定及基因型-表型相关性
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Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.一名患有II型克里格勒-纳贾尔综合征儿童的UGT1A1基因纯合（TA）8启动子多态性与N400D突变的关联。
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Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
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A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.UGT1A1 基因的一种新移码突变导致 I 型克里格勒-纳贾尔综合征。
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Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.
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Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.一个伊朗家庭中两种不同的 UGT1A1 突变导致的克里格勒-纳贾尔综合征 I 型和 II 型。
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Mol Biol Rep. 2018 Dec;45(6):2733-2739. doi: 10.1007/s11033-018-4305-6. Epub 2018 Aug 13.
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Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects.简要综述：先天性肝脏代谢缺陷细胞治疗的最新进展与当前挑战
Stem Cells Transl Med. 2016 Aug;5(8):1117-25. doi: 10.5966/sctm.2015-0260. Epub 2016 May 31.
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Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
采用新型THRB突变治疗严重甲状腺激素β抵抗的隔日左甲状腺素钠成功疗法；病例报告
BMC Endocr Disord. 2016 Jan 12;16:1. doi: 10.1186/s12902-015-0081-7.
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Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.Ⅱ型克里格勒-纳贾尔综合征的突变分析——病例报告与文献综述
J Clin Exp Hepatol. 2011 Dec;1(3):204-6. doi: 10.1016/S0973-6883(11)60239-9. Epub 2012 Jan 2.