• 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 de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

作者信息

Manaspon C, Thaweesapphithak S, Osathanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V

机构信息

Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.

Department of Anatomy, Center of Excellence for Regenerative Dentistry, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.

出版信息

Br J Dermatol. 2019 Aug;181(2):419-420. doi: 10.1111/bjd.18007. Epub 2019 May 14.

DOI:10.1111/bjd.18007
PMID:30977908
Abstract
摘要

相似文献

1
A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.一种新的从头突变证实KDF1是导致外胚层发育不良的基因。
Br J Dermatol. 2019 Aug;181(2):419-420. doi: 10.1111/bjd.18007. Epub 2019 May 14.
2
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.中国一家系中与汗孔性外胚层发育不良相关的GJB6基因A88V突变
Int J Dermatol. 2019 Dec;58(12):1462-1465. doi: 10.1111/ijd.14341. Epub 2019 Jan 8.
3
Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.KREMEN1基因中的新型复合杂合突变证实其为外胚层发育不良的致病基因。
Br J Dermatol. 2018 Sep;179(3):758-760. doi: 10.1111/bjd.16541. Epub 2018 Jun 13.
4
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.KDF1，编码角蛋白细胞分化因子 1，在一个具有外胚层发育不良的多代家族中发生突变。
Hum Genet. 2017 Jan;136(1):99-105. doi: 10.1007/s00439-016-1741-z. Epub 2016 Nov 12.
5
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.一项对45个患有外胚层发育异常的丹麦家庭的临床和突变结果的回顾性研究。
Acta Derm Venereol. 2014 Sep;94(5):531-3. doi: 10.2340/00015555-1799.
6
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.X连锁低汗性外胚层发育不良家系中新生突变的检测及其起源分析。
J Med Genet. 1994 Apr;31(4):287-92. doi: 10.1136/jmg.31.4.287.
7
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.个性化干细胞疗法矫正因并指-外胚层发育不良-腭裂综合征独特的纯合-杂合镶嵌现象导致的角膜缺陷。
Stem Cells Transl Med. 2016 Aug;5(8):1098-105. doi: 10.5966/sctm.2015-0358. Epub 2016 May 5.
8
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene.
J Dermatol. 2018 Jul;45(7):e203-e204. doi: 10.1111/1346-8138.14236. Epub 2018 Jan 30.
9
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.Rapp-Hodgkin外胚层发育不良综合征相关的p63基因中存在新生错义突变S541Y。
Clin Exp Dermatol. 2005 May;30(3):282-5. doi: 10.1111/j.1365-2230.2005.01722.x.
10
A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia.
J Dermatol Sci. 2018 Jun;90(3):360-363. doi: 10.1016/j.jdermsci.2018.02.006. Epub 2018 Feb 21.

引用本文的文献

1
A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.一种新型KDF1变体与多生牙、牙齿缺失和牙根发育异常有关。
Int Dent J. 2025 Aug;75(4):100860. doi: 10.1016/j.identj.2025.100860. Epub 2025 Jun 23.
2
Novel familial mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.在一个有外胚层发育异常临床表现的三代家族成员中检测到新型家族性突变：四例报告。
Biomed Rep. 2025 May 21;23(1):121. doi: 10.3892/br.2025.1999. eCollection 2025 Jul.
3
KDF1 promotes ameloblast differentiation by inhibiting the IKK/IκB/NF-κB axis.
KDF1通过抑制IKK/IκB/NF-κB轴促进成釉细胞分化。
J Cell Physiol. 2024 Dec;239(12):e31437. doi: 10.1002/jcp.31437. Epub 2024 Sep 19.
4
KDF1 Promoted Proliferation, Migration and Invasion of Lung Adenocarcinoma Cells through Activating STAT3 and AKT Pathway.KDF1通过激活STAT3和AKT信号通路促进肺腺癌细胞的增殖、迁移和侵袭。
Biomedicines. 2023 Dec 1;11(12):3194. doi: 10.3390/biomedicines11123194.
5
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of Deficiency.伴有轻微外胚层症状的牙齿表型提示存在缺陷。
Children (Basel). 2023 Feb 10;10(2):356. doi: 10.3390/children10020356.
6
Enamel Structure Defects in Missense Mutation Knock-in Mice.错义突变敲入小鼠的釉质结构缺陷
Biomedicines. 2023 Feb 7;11(2):482. doi: 10.3390/biomedicines11020482.
7
Novel Variant Causes Unique Dental and Oral Epithelial Defects.新型变异导致独特的牙齿和口腔上皮缺陷。
Int J Mol Sci. 2022 Oct 18;23(20):12465. doi: 10.3390/ijms232012465.
8
Bioinformatics Identification of Key Genes for the Development and Prognosis of Lung Adenocarcinoma.生物信息学鉴定肺腺癌发生发展及预后的关键基因。
Inquiry. 2022 Jan-Dec;59:469580221096259. doi: 10.1177/00469580221096259.
9
KDF1, a Novel Tumor Suppressor in Clear Cell Renal Cell Carcinoma.KDF1，一种透明细胞肾细胞癌中的新型肿瘤抑制因子。
Front Oncol. 2021 May 31;11:686678. doi: 10.3389/fonc.2021.686678. eCollection 2021.