Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

Published:1994-01 Issue:1 Volume:6 Page:106-110
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Torchard D.,Blanchet-Bardon C.,Serova O.,Langbein L.,Narod S.,Janin N.,Goguel A.F.,Bernheim A.,Franke W.W.,Lenoir G.M.,Feunteun J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0194-106.pdf

Reference27 articles.

1. Coulombe, J. et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysis. Cell 66, 1301–1311 (1991).

2. Lane, E.B. et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 2444–2446 (1993).

3. Hovnanian, A. et al. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nature Genet. 3, 327–332 (1993).

4. Rothnagel, J.A. et al. Mutations in the rod domain of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257, 1128–1130 (1992).

5. Cheng, J. et al. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes. Cell 70, 811–819 (1992).

Cited by 113 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. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature;Orphanet Journal of Rare Diseases;2023-09-13

3. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25

4. Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers;Frontiers in Genetics;2020-08-27

5. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review;Molecular Genetics & Genomic Medicine;2019-09-16

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