• 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

Pseudodominant inheritance of self-improving collodion ichthyosis with homozygous mutation in the ALOX12B gene.

作者信息

Srinivas Sahana M, Dhar Sandipan, Gowdra Aruna

机构信息

Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Department of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India.

出版信息

Indian J Dermatol Venereol Leprol. 2021 Sep-Oct;87(5):714-717. doi: 10.25259/IJDVL_1376_20.

DOI:10.25259/IJDVL_1376_20
PMID:34379964
Abstract
摘要

相似文献

1
Pseudodominant inheritance of self-improving collodion ichthyosis with homozygous mutation in the ALOX12B gene.具有ALOX12B基因纯合突变的自愈性火棉胶样鱼鳞病的假显性遗传
Indian J Dermatol Venereol Leprol. 2021 Sep-Oct;87(5):714-717. doi: 10.25259/IJDVL_1376_20.
2
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.由于ALOX12B基因的2种新突变导致的自愈性火棉胶膜和轻度非大疱性先天性鱼鳞病样红皮病。
Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.
3
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.
4
A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.新生儿期严重的火棉胶样表型与ALOX12B基因的纯合错义突变相关。
Br J Dermatol. 2015 Jul;173(1):285-7. doi: 10.1111/bjd.13627. Epub 2015 May 18.
5
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.轻度先天性鱼鳞样红皮病伴 ALOX12B 突变患者的板层颗粒部分分泌障碍。
Br J Dermatol. 2010 Jul;163(1):201-4. doi: 10.1111/j.1365-2133.2010.09745.x. Epub 2010 Mar 5.
6
Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.ALOX12B基因中导致先天性鱼鳞病样红皮病的新型纯合错义突变c.1654G>T
J Dermatol. 2023 Jan;50(1):e37-e38. doi: 10.1111/1346-8138.16601. Epub 2022 Oct 18.
7
Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.224 例患者大样本队列中 或 基因突变的荟萃分析
Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080.
8
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Br J Dermatol. 2006 Jul;155(1):198-200. doi: 10.1111/j.1365-2133.2006.07188.x.
9
A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.12R-脂氧合酶Alox12b中的小鼠突变会破坏表皮渗透屏障的形成。
J Invest Dermatol. 2007 Aug;127(8):1893-7. doi: 10.1038/sj.jid.5700825. Epub 2007 Apr 12.
10
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Galicia（西班牙西北部）常染色体隐性先天性鱼鳞病中 TGM1、ALOX12B、ALOXE3、NIPAL4 和 CYP4F22 的分析： 存在创始效应的证据。
Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4.

引用本文的文献

1
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.