Suppr超能文献

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

作者信息

Vodo D, O'Toole E A, Malchin N, Lahav A, Adir N, Sarig O, Green K J, Smith F J D, Sprecher E

机构信息

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Br J Dermatol. 2018 Sep;179(3):755-757. doi: 10.1111/bjd.16320. Epub 2018 May 5.

Abstract
摘要

相似文献

1
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.
Br J Dermatol. 2018 Sep;179(3):755-757. doi: 10.1111/bjd.16320. Epub 2018 May 5.
2
Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.
J Dermatol Sci. 2015 Dec;80(3):223-5. doi: 10.1016/j.jdermsci.2015.10.004. Epub 2015 Oct 9.
3
Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma.
J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e137-e138. doi: 10.1111/jdv.15349. Epub 2018 Dec 4.
4
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Clin Exp Dermatol. 2009 Mar;34(2):224-8. doi: 10.1111/j.1365-2230.2008.02733.x. Epub 2008 Nov 6.
6
Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.
Am J Dermatopathol. 2015 Oct;37(10):804-5. doi: 10.1097/DAD.0000000000000264.
7
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.
Br J Dermatol. 2009 Sep;161(3):692-4. doi: 10.1111/j.1365-2133.2009.09316.x. Epub 2009 Jun 25.
8
Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family.
Ann Hum Genet. 2019 Nov;83(6):472-476. doi: 10.1111/ahg.12335. Epub 2019 Jun 13.
9
Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.
J Dermatol Sci. 2018 Feb;89(2):198-201. doi: 10.1016/j.jdermsci.2017.11.012. Epub 2017 Dec 2.
10
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
J Dermatol Sci. 2007 Mar;45(3):161-6. doi: 10.1016/j.jdermsci.2006.11.013. Epub 2006 Dec 27.

引用本文的文献

1
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
Genes Genomics. 2025 Jan;47(1):1-10. doi: 10.1007/s13258-024-01587-7. Epub 2024 Nov 6.
2
Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.
Skin Appendage Disord. 2021 Apr;7(3):194-202. doi: 10.1159/000513340. Epub 2021 Feb 5.
3
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
BMC Med Genet. 2019 Aug 23;20(1):145. doi: 10.1186/s12881-019-0872-1.

本文引用的文献

1
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
Br J Dermatol. 2017 May;176(5):1345-1350. doi: 10.1111/bjd.14973. Epub 2017 Apr 2.
2
Structural basis of adhesive binding by desmocollins and desmogleins.
Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):7160-5. doi: 10.1073/pnas.1606272113. Epub 2016 Jun 13.
3
The Phyre2 web portal for protein modeling, prediction and analysis.
Nat Protoc. 2015 Jun;10(6):845-58. doi: 10.1038/nprot.2015.053. Epub 2015 May 7.
4
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.
J Clin Invest. 2013 Apr;123(4):1556-70. doi: 10.1172/JCI65220. Epub 2013 Mar 25.
5
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Clin Exp Dermatol. 2009 Mar;34(2):224-8. doi: 10.1111/j.1365-2230.2008.02733.x. Epub 2008 Nov 6.
6
The molecular architecture of cadherins in native epidermal desmosomes.
Nature. 2007 Dec 6;450(7171):832-7. doi: 10.1038/nature05994.
7
LOMETS: a local meta-threading-server for protein structure prediction.
Nucleic Acids Res. 2007;35(10):3375-82. doi: 10.1093/nar/gkm251. Epub 2007 May 3.
8
Palmoplantar keratodermas.
Clin Dermatol. 2005 Jan-Feb;23(1):15-22. doi: 10.1016/j.clindermatol.2004.09.005.
9
Cadherin-mediated cell-cell adhesion: sticking together as a family.
Curr Opin Struct Biol. 2003 Dec;13(6):690-8. doi: 10.1016/j.sbi.2003.10.007.
10
The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003.
Nucleic Acids Res. 2003 Jan 1;31(1):365-70. doi: 10.1093/nar/gkg095.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验