• 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

Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

作者信息

Bernard Pauline, Pell Nuria, Mazereeuw-Hautier Juliette, Jonca Nathalie

机构信息

Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, France.

Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France.

出版信息

Acta Derm Venereol. 2025 Jan 3;105:adv42502. doi: 10.2340/actadv.v105.42502.

DOI:10.2340/actadv.v105.42502
PMID:39749396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11697137/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/e9c99a067f68/ActaDV-105-42502-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/d5d1a6e05239/ActaDV-105-42502-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/e9c99a067f68/ActaDV-105-42502-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/d5d1a6e05239/ActaDV-105-42502-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ca7/11697137/e9c99a067f68/ActaDV-105-42502-g002.jpg

相似文献

1
Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.一名先天性鱼鳞病和掌跖角化病患者中的新型ABCA12错义变异体。
Acta Derm Venereol. 2025 Jan 3;105:adv42502. doi: 10.2340/actadv.v105.42502.
2
Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.
Clin Exp Dermatol. 2025 Feb 24;50(3):642-647. doi: 10.1093/ced/llae478.
3
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.在一名厄瓜多尔丑角鱼鳞病患者中鉴定出一种新型ABCA12病理变异：在基因型-表型相关性研究方面向前迈进了一步。
Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.
4
Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.更新 ABCA12 致病性变异导致的鱼鳞病患者的突变谱和基因型-表型相关性。
Exp Dermatol. 2024 Apr;33(4):e15072. doi: 10.1111/exd.15072.
5
Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).ABCA12 部分功能丧失突变导致葡萄糖神经酰胺沉积减少，导致斑片状鱼鳞病和红皮病类似于可变进展性红皮病角化病（EKVP）。
Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962.
6
Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.因ABCA12基因变异而患有角化障碍且表现为毛发红糠疹表型的患者。
J Dermatol. 2024 Jan;51(1):101-105. doi: 10.1111/1346-8138.16967. Epub 2023 Sep 27.
7
Mutational Spectrum of the Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.常染色体隐性遗传先天性鱼鳞病 64 例患者的 基因及其基因型-表型相关性的突变谱。
Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717.
8
A novel variant c.7104 + 6T > A of linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.通过小基因剪接试验验证的与常染色体隐性先天性鱼鳞病相关的新型变体c.7104 + 6T > A 。
Front Pediatr. 2024 Dec 19;12:1505924. doi: 10.3389/fped.2024.1505924. eCollection 2024.
9
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.一种新的常染色体隐性 GJB2 相关疾病：毛囊角化病、双侧严重感音神经性听力损失和点状掌跖角化病。
Hum Mutat. 2019 Feb;40(2):217-229. doi: 10.1002/humu.23686. Epub 2018 Dec 1.
10
An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.一种 ABCA12 错义变异导致短角牛胎儿鱼鳞病。
Anim Genet. 2019 Dec;50(6):749-752. doi: 10.1111/age.12856. Epub 2019 Sep 30.

本文引用的文献

1
Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).ABCA12 部分功能丧失突变导致葡萄糖神经酰胺沉积减少，导致斑片状鱼鳞病和红皮病类似于可变进展性红皮病角化病（EKVP）。
Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962.
2
Ichthyosis.鱼鳞病
Nat Rev Dis Primers. 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3.
3
Diagnosis and Management of Inherited Palmoplantar Keratodermas.
遗传性掌跖角化症的诊断与治疗。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430.
4
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.常染色体隐性先天性鱼鳞病患者中的ABCA12基因突变：西班牙人群中奠基者效应的证据及表型-基因型的意义
J Dermatol Sci. 2018 Sep;91(3):328-331. doi: 10.1016/j.jdermsci.2018.05.012. Epub 2018 Jun 5.
5
Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.遗传性掌跖角化病。第一部分。非综合征性掌跖角化病：分类、临床和遗传特征。
J Eur Acad Dermatol Venereol. 2018 May;32(5):704-719. doi: 10.1111/jdv.14902. Epub 2018 Mar 24.
6
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.ABCA12 基因突变与常染色体隐性先天性鱼鳞病：基因型/表型相关性及发病机制概念的综述。
Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326.
7
Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.人表皮上层角质形成细胞中ABCA12从高尔基体到板层颗粒的定位
Exp Dermatol. 2007 Nov;16(11):920-6. doi: 10.1111/j.1600-0625.2007.00614.x.
8
Molecular genetics of the ichthyoses.鱼鳞病的分子遗传学
Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):32-44. doi: 10.1002/ajmg.c.30032.