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Expanding the Phenotypic Spectrum of Olmsted Syndrome.

作者信息

Wilson Neil J, Cole Christian, Milstone Leonard M, Kiszewski Ana E, Hansen C David, O'Toole Edel A, Schwartz Mary E, Irwin McLean W H, Smith Frances J D

机构信息

Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.

Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Division of Computational Biology, College of Life Sciences, University of Dundee, Dundee, UK.

出版信息

J Invest Dermatol. 2015 Nov;135(11):2879-2883. doi: 10.1038/jid.2015.217. Epub 2015 Jun 12.

DOI:10.1038/jid.2015.217
PMID:26067147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4652067/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50ad/4652067/d2641d9385b4/jid2015217f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50ad/4652067/d2641d9385b4/jid2015217f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50ad/4652067/d2641d9385b4/jid2015217f1.jpg

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J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6.
2
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3.一名患有TRPV3基因新发从头突变的伊朗男孩患奥姆斯特德综合征。
Clin Exp Dermatol. 2014 Jun;39(4):492-5. doi: 10.1111/ced.12318. Epub 2014 Apr 23.
3
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.
两种天然异绿原酸异构体对温度敏感的TRPV3通道的抑制作用,用于缓解皮炎和慢性瘙痒。
Acta Pharm Sin B. 2022 Feb;12(2):723-734. doi: 10.1016/j.apsb.2021.08.002. Epub 2021 Aug 5.
4
Abnormal Somatosensory Behaviors Associated With a Gain-of-Function Mutation in TRPV3 Channels.与TRPV3通道功能获得性突变相关的异常躯体感觉行为
Front Mol Neurosci. 2022 Jan 4;14:790435. doi: 10.3389/fnmol.2021.790435. eCollection 2021.
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Mechanisms of proton inhibition and sensitization of the cation channel TRPV3.质子抑制和敏化阳离子通道 TRPV3 的机制。
J Gen Physiol. 2021 Feb 1;153(2). doi: 10.1085/jgp.202012663.
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Comment on "Olmsted Syndrome".关于《奥姆斯特德综合征》的评论
Case Rep Dermatol Med. 2020 Jun 3;2020:8024981. doi: 10.1155/2020/8024981. eCollection 2020.
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Diagnosis and Management of Inherited Palmoplantar Keratodermas.遗传性掌跖角化症的诊断与治疗。
Acta Derm Venereol. 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430.
8
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.使用表皮生长因子受体抑制剂厄洛替尼治疗 TRPV3 突变引起的 Olmsted 综合征患者的掌跖角化过度症。
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由隐性瞬时受体电位香草酸亚型3突变引起的伴有红斑性肢痛症的奥姆斯特德综合征。
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JAMA Dermatol. 2014 Mar;150(3):303-6. doi: 10.1001/jamadermatol.2013.8709.
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Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.印度一名散发型 Olmsted 综合征男孩 TRPV3 基因中 p.Gly573Ser 错义突变的反复杂合性。
Br J Dermatol. 2012 Aug;167(2):440-2. doi: 10.1111/j.1365-2133.2012.11115.x.
10
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Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006.