一名患有重度II型黏多糖贮积症的韩国女孩的X染色体失活偏斜 - Suppr

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.

作者信息

Kim Hwa Young, Kim Man Jin, Seong Moon-Woo, Ko Jung Min

机构信息

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2022 May 1;42(3):373-375. doi: 10.3343/alm.2022.42.3.373.

DOI:10.3343/alm.2022.42.3.373

PMID:34907110

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8677480/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7368/8677480/88c7e60e1072/alm-42-3-373-f1.jpg

相似文献

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.一名患有重度II型黏多糖贮积症的韩国女孩的X染色体失活偏斜

Ann Lab Med. 2022 May 1;42(3):373-375. doi: 10.3343/alm.2022.42.3.373.

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.鉴定 49 例韩国黏多糖贮积症 II 型患者中的 11 种新突变。

Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24.

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.一名携带艾杜糖醛酸-2-硫酸酯酶基因杂合性终止突变且X染色体失活偏向的女性患有II型黏多糖贮积症。

Eur J Med Genet. 2013 Mar;56(3):159-62. doi: 10.1016/j.ejmg.2012.11.006. Epub 2012 Dec 8.

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.不同细胞类型和诱导多能干细胞中的X染色体失活分析揭示了一名女性罕见II型粘多糖贮积症的疾病机制。

Folia Biol (Praha). 2016;62(2):82-9. doi: 10.14712/fb2016062020082.

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.回顾性分析韩国黏多糖贮积症 II 型患者的临床表现和生存情况：重点关注心血管并发症和死亡病例。

Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.一名患有相互易位X;9和X染色体失活偏态的女性患者的II型黏多糖贮积症。

Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8.

Mucopolysaccharidosis type II in females: case report and review of literature.女性II型黏多糖贮积症：病例报告及文献综述

Pediatr Neurol. 2005 Apr;32(4):270-2. doi: 10.1016/j.pediatrneurol.2004.10.009.

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.黏多糖贮积症 II 型在女性中的表现和酶替代治疗的反应。

Am J Med Genet A. 2012 Feb;158A(2):450-4. doi: 10.1002/ajmg.a.34415. Epub 2012 Jan 13.

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].[中国黏多糖贮积症Ⅱ型家系的IDS基因分子分析及产前诊断]

Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):109-13.

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.病例报告：一名女孩患亨特综合征（II型黏多糖贮积症）的罕见病例。

BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x.

引用本文的文献

The diagnosis and management of mucopolysaccharidosis type II.黏多糖贮积症 II 型的诊断与治疗。

Ital J Pediatr. 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9.

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.日本黏多糖贮积症II型新生儿筛查中检测到的艾杜糖醛酸-2-硫酸酯酶基因变异频率。

Mol Genet Metab Rep. 2023 Aug 28;37:101003. doi: 10.1016/j.ymgmr.2023.101003. eCollection 2023 Dec.

本文引用的文献

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.亨特综合征女性患者酶替代治疗的免疫调节。

Front Immunol. 2020 May 21;11:1000. doi: 10.3389/fimmu.2020.01000. eCollection 2020.

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.黏多糖贮积症 II 型：百年的研究、诊断和治疗。

Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258.

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).II型粘多糖贮积症（MPS II；亨特综合征）的临床表现与治疗方法。

Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.

Eur J Med Genet. 2013 Mar;56(3):159-62. doi: 10.1016/j.ejmg.2012.11.006. Epub 2012 Dec 8.

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.黏多糖贮积症 II 型在女性中的表现和酶替代治疗的反应。

Am J Med Genet A. 2012 Feb;158A(2):450-4. doi: 10.1002/ajmg.a.34415. Epub 2012 Jan 13.

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.鉴定 49 例韩国黏多糖贮积症 II 型患者中的 11 种新突变。

Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.黏多糖贮积症 II 型 p.R443X 突变的母女：基因型和表型分析。

Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589.

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.伊杜硫酸酶治疗 11 岁亨特综合征女孩：脑磁共振成像特征与演变。

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S67-72. doi: 10.1007/s10545-009-9023-8. Epub 2010 Jan 6.

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.双链断裂可能引发导致亨特综合征的倒位突变。

Hum Mol Genet. 1997 Apr;6(4):627-33. doi: 10.1093/hmg/6.4.627.

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.人类雄激素受体基因中多态性CAG重复序列附近的HpaII和HhaI位点甲基化与X染色体失活相关。

Am J Hum Genet. 1992 Dec;51(6):1229-39.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献