Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome

Published:2017-09-21 Issue:11 Volume:173 Page:3114-3117
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Busa Tiffany¹^ORCID,Jeraiby Mohammed²,Clémenson Alix³,Manouvrier Sylvie⁴,Granados Viviana²,Philip Nicole¹,Touraine Renaud²

Affiliation:

1. Unité de génétique clinique, APHM; CHU Timone-Enfants; Marseille France

2. Service de Génétique Clinique, Chromosomique et Moléculaire; CHU-Hôpital Nord; Saint Etienne France

3. Service d'Anatomie et Cytologie Pathologiques; CHU-Hôpital Nord; Saint Etienne France

4. Service de Génétique médicale; Hôpital Jeanne de Flandre; CHRU de Lille; Lille France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Regulation of NF-kappaB activity and keratinocyte differentiation by the RIP4 protein: Implications for cutaneous wound repair;Adams;The Journal of investigative dermatology,2007

2. CHANDS: The curly hair-ankyloblepharon-nail dysplasia syndrome;Baughman;Birth Defects Original Article Series,1971

3. AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias;Bertola;Pediatric Dermatology,2000

4. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome;de Lima;Genetics in Medicine,2009

5. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes;Gollasch;American Journal of Medical Genetics Part A,2015

Cited by 6 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. Functions of the RIP kinase family members in the skin;Cellular and Molecular Life Sciences;2023-09-09

2. RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis;Human Molecular Genetics;2022-02-26

3. A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome;American Journal of Medical Genetics Part A;2021-03-13

4. MicroRNA miR-330-3p suppresses the progression of ovarian cancer by targeting RIPK4;Bioengineered;2021-01-01

5. Insight Into the Function of RIPK4 in Keratinocyte Differentiation and Carcinogenesis;Frontiers in Oncology;2020-08-14

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