A novel de novo mutation substantiates KDF 1 as a gene causing ectodermal dysplasia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel de novo mutation substantiates KDF 1 as a gene causing ectodermal dysplasia

Published:2019-05-14 Issue:2 Volume:181 Page:419-420
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Manaspon C.¹,Thaweesapphithak S.¹,Osathanon T.²,Suphapeetiporn K.³⁴,Porntaveetus T.¹^ORCID,Shotelersuk V.³⁴

Affiliation:

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

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

3. Center of Excellence for Medical Genomics Department of Pediatrics Faculty of Medicine Chulalongkorn University Bangkok 10330 Thailand

4. Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, the Thai Red Cross Society Bangkok 10330 Thailand

Funder

Newton Fund

Thailand Research Fund

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.18007

Reference8 articles.

1. Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

2. Etiology and pathogenesis of ectodermal dysplasias

3. Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation–differentiation decision in epidermal progenitor cells

4. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

5. KDF1 is a novel candidate gene of non-syndromic tooth agenesis

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Keratinocyte differentiation factor 1 enhances cervical cancer cell viability and migration by activating the PI3K/AKT pathway;Journal of Obstetrics and Gynaecology;2024-06-12

2. Tooth agenesis related to a novel KDF1 variant: A case report and literature review;Oral Diseases;2024-03-19

3. KDF1 Promoted Proliferation, Migration and Invasion of Lung Adenocarcinoma Cells through Activating STAT3 and AKT Pathway;Biomedicines;2023-12-01

4. Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α;British Journal of Dermatology;2023-04-25

5. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency;Children;2023-02-10

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3