• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.

作者信息

Lolas I B, Sommerlund M, Okkels H, Ramsing M, Petersen M B

机构信息

Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.

出版信息

J Eur Acad Dermatol Venereol. 2016 Nov;30(11):e144-e145. doi: 10.1111/jdv.13457. Epub 2015 Nov 16.

DOI:10.1111/jdv.13457
PMID:26575587
Abstract
摘要

相似文献

1
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.一个患有常染色体隐性先天性鱼鳞病的库尔德家庭中，ALOX12B基因出现一种新的缺失突变。
J Eur Acad Dermatol Venereol. 2016 Nov;30(11):e144-e145. doi: 10.1111/jdv.13457. Epub 2015 Nov 16.
2
Autosomal recessive gene and consecutive collodion baby.常染色体隐性基因与连续胶样儿。
BMJ Case Rep. 2024 Mar 21;17(3):e257608. doi: 10.1136/bcr-2023-257608.
3
Conditional Alox12b Knockout: Degradation of the Corneocyte Lipid Envelope in a Mouse Model of Autosomal Recessive Congenital Ichthyoses.条件性Alox12b基因敲除：常染色体隐性先天性鱼鳞病小鼠模型中角质形成细胞脂质包膜的降解
J Invest Dermatol. 2020 Jan;140(1):249-253.e6. doi: 10.1016/j.jid.2019.06.134. Epub 2019 Jul 2.
4
Lamellar ichthyosis due to ALOX12B mutation.因ALOX12B基因突变导致的板层状鱼鳞病。
Actas Dermosifiliogr. 2013 Jun;104(5):443-4. doi: 10.1016/j.ad.2012.07.011. Epub 2012 Oct 17.
5
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family.
J Eur Acad Dermatol Venereol. 2010 Feb;24(2):232-4. doi: 10.1111/j.1468-3083.2009.03381.x. Epub 2009 Aug 20.
6
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.常染色体隐性先天性鱼鳞病患者中ALOX12B基因的新突变及17号染色体p13区域遗传异质性的证据
J Invest Dermatol. 2007 Apr;127(4):829-34. doi: 10.1038/sj.jid.5700640. Epub 2006 Nov 30.
7
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene.自愈性胶样婴儿：ALOX12B基因的一种新突变
Actas Dermosifiliogr. 2016 Jun;107(5):433-5. doi: 10.1016/j.ad.2015.10.014. Epub 2016 Feb 24.
8
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.对日本和马来西亚23名患常染色体隐性遗传性先天性鱼鳞病的非亲缘关系患者的9个基因进行突变研究。
J Dermatol Sci. 2015 Apr;78(1):82-5. doi: 10.1016/j.jdermsci.2015.02.006. Epub 2015 Feb 19.
9
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.在患有常染色体隐性先天性鱼鳞病的土耳其家族中鉴定出两种新的PNPLA1突变。
Turk J Pediatr. 2017;59(4):475-482. doi: 10.24953/turkjped.2017.04.017.
10
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.阿拉伯人常染色体隐性先天性鱼鳞病（ARCI）潜在突变总结，来自阿拉伯联合酋长国的ARCI相关基因中有四个新突变。
Int J Dermatol. 2017 May;56(5):514-523. doi: 10.1111/ijd.13568. Epub 2017 Feb 24.

引用本文的文献

1
Therapeutic Performance of Needle Injection Versus Needle-Free Jet Injector System for Polynucleotide Filler in Skin Rejuvenation.用于皮肤年轻化的多核苷酸填充剂的针剂注射与无针喷射注射器系统的治疗效果对比
J Cosmet Dermatol. 2025 Jan;24(1):e16595. doi: 10.1111/jocd.16595. Epub 2024 Oct 7.
2
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.
3
Prediction and prognostic significance of ALOX12B and PACSIN1 expression in gastric cancer by genome-wide RNA expression and methylation analysis.
通过全基因组RNA表达和甲基化分析预测ALOX12B和PACSIN1在胃癌中的表达及其预后意义
J Gastrointest Oncol. 2021 Oct;12(5):2082-2092. doi: 10.21037/jgo-21-508.