单亲二体作为CERS3突变型常染色体隐性先天性鱼鳞病的一种机制。 - Suppr

Suppr

超能文献

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.

作者信息

Polubothu S, Glover M, Holder S E, Kinsler V A

机构信息

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, U.K.

Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.

出版信息

Br J Dermatol. 2018 Nov;179(5):1214-1215. doi: 10.1111/bjd.16999. Epub 2018 Sep 20.

DOI:10.1111/bjd.16999

PMID:30007077

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6549133/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a8e3/6549133/c88d139cf3c4/BJD-179-1214-g001.jpg

相似文献

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.单亲二体作为CERS3突变型常染色体隐性先天性鱼鳞病的一种机制。

Br J Dermatol. 2018 Nov;179(5):1214-1215. doi: 10.1111/bjd.16999. Epub 2018 Sep 20.

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.Prader-Willi 综合征相关先天性鱼鳞病伴母源 15 号染色体单亲二体性：病例报告及非综合征型常染色体隐性遗传病因 UPD 而显现的文献复习

Am J Med Genet A. 2020 Oct;182(10):2442-2449. doi: 10.1002/ajmg.a.61792. Epub 2020 Aug 20.

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.15 号染色体母源单亲二体性镶嵌在 Prader-Willi 综合征中的作用：全基因组 SNP 微阵列的应用。

Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.一名患有X染色体长臂等臂染色体的女孩，同时患有普拉德-威利综合征和泰-萨克斯病，并伴有母源性单亲同二体和15号染色体异二体嵌合。

Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.

Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.分娩时产妇年龄较大与单亲二体的发生。关于韩国因产妇生育年龄较大导致普拉德-威利综合征中单亲二体比例增加的评论。

J Hum Genet. 2013 Mar;58(3):118-9. doi: 10.1038/jhg.2013.4. Epub 2013 Jan 31.

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.表皮神经酰胺合成受损导致常染色体隐性先天性鱼鳞病，并揭示了神经酰胺酰链长度的重要性。

J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2.

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.由15号染色体单亲二体导致的普拉德-威利综合征与GM2神经节苷脂贮积症并发诊断。

Am J Med Genet A. 2015 Aug;167A(8):1944-8. doi: 10.1002/ajmg.a.37090. Epub 2015 Apr 21.

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.常染色体隐性先天性鱼鳞病的最新进展：利用毛发样本进行mRNA分析是基因诊断的有力工具。

J Dermatol Sci. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Epub 2015 Apr 30.

Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized?韩国普拉德-威利综合征的遗传基础：单亲二体是否比已认识到的更少？

Clin Genet. 2004 Oct;66(4):368-72. doi: 10.1111/j.1399-0004.2004.00323.x.

[Prader-Willi syndrome].普拉德-威利综合征

Nihon Rinsho. 2006 Jun 28;Suppl 2:229-33.

引用本文的文献

Microbial riboflavin inhibits ceramide synthase 3 to lower ceramide (d18:1/26:0) and delay colorectal cancer progression.微生物核黄素抑制神经酰胺合酶3，以降低神经酰胺（d18:1/26:0）水平并延缓结直肠癌进展。

Cell Metab. 2025 Jun 26. doi: 10.1016/j.cmet.2025.06.002.

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in Gene in Child with Prader-Willi and Lodder-Merla Syndrome.患有普拉德-威利综合征和洛德-梅拉综合征的儿童中，15号染色体q11-q1区域的混合节段单亲二体与该基因的纯合变异共存。

Genes (Basel). 2025 Jun 5;16(6):689. doi: 10.3390/genes16060689.

Role of ceramides in diabetic foot ulcers (Review).神经酰胺在糖尿病足溃疡中的作用（综述）。

Int J Mol Med. 2023 Mar;51(3). doi: 10.3892/ijmm.2023.5229. Epub 2023 Feb 17.

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the gene due to chromosome 17 mixed uniparental disomy.因17号染色体单亲二体导致该基因纯合缺失引起的首例先天性鱼鳞病病例的鉴定。

Front Genet. 2022 Aug 8;13:931833. doi: 10.3389/fgene.2022.931833. eCollection 2022.

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.角蛋白化障碍的分子遗传学——关于鱼鳞病的新认识。

Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431.

本文引用的文献

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.CERS3 基因突变导致人类常染色体隐性遗传性先天性鱼鳞病。

PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6.

J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2.

Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan.常染色体隐性先天性鱼鳞病在台湾南部一个与世隔绝的原住民群体中定位于15号染色体长臂26.3区。

J Dermatol Sci. 2011 Jan;61(1):62-4. doi: 10.1016/j.jdermsci.2010.10.011. Epub 2010 Oct 30.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.遗传性鱼鳞病的修订命名和分类：2009 年索雷兹第一次鱼鳞病共识会议的结果。

J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020.

Parental origin of chromosome 15 deletion in Prader-Willi syndrome.普拉德-威利综合征中15号染色体缺失的亲本来源

Lancet. 1983 Jun 4;1(8336):1285-6. doi: 10.1016/s0140-6736(83)92745-9.

Uniparental disomy as a mechanism for human genetic disease.单亲二体作为人类遗传疾病的一种机制。

Am J Hum Genet. 1988 Feb;42(2):217-26.

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.非缺失型普拉德-威利综合征中母源二体性提示的基因印记

Nature. 1989 Nov 16;342(6247):281-5. doi: 10.1038/342281a0.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.安吉尔曼综合征和普拉德-威利综合征都存在共同的15号染色体缺失，但缺失的亲本来源不同。

Am J Med Genet. 1989 Feb;32(2):285-90. doi: 10.1002/ajmg.1320320235.

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