Literature DB >> 24606194

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.

S Duchatelet1, L Guibbal, S de Veer, S Fraitag, P Nitschké, M Zarhrate, C Bodemer, A Hovnanian.   

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Year:  2014        PMID： 24606194     DOI： 10.1111/bjd.12951

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

Review 1.  Olmsted syndrome: clinical, molecular and therapeutic aspects.

Authors:  Sabine Duchatelet; Alain Hovnanian
Journal:  Orphanet J Rare Dis       Date:  2015-03-17       Impact factor: 4.123

2.  A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Authors:  Cheng Ni; Ming Yan; Jia Zhang; Ruhong Cheng; Jianying Liang; Dan Deng; Zhen Wang; Ming Li; Zhirong Yao
Journal:  Sci Rep       Date:  2016-02-23       Impact factor: 4.379

3.  Expanding the Phenotypic Spectrum of Olmsted Syndrome.

Authors:  Neil J Wilson; Christian Cole; Leonard M Milstone; Ana E Kiszewski; C David Hansen; Edel A O'Toole; Mary E Schwartz; W H Irwin McLean; Frances J D Smith
Journal:  J Invest Dermatol       Date:  2015-06-12       Impact factor: 8.551

4.  Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.

Authors:  Ji Young Choi; Song Ee Kim; Sang Eun Lee; Soo Chan Kim
Journal:  Yonsei Med J       Date:  2018-03       Impact factor: 2.759

Review 5.  MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Authors:  Natarin Caengprasath; Thanakorn Theerapanon; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  J Transl Med       Date:  2021-03-20       Impact factor: 5.531

Review 6.  Pain-related toxins in scorpion and spider venoms: a face to face with ion channels.

Authors:  Sylvie Diochot
Journal:  J Venom Anim Toxins Incl Trop Dis       Date:  2021-12-06

7.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096

Review 8.  TRP channel cannabinoid receptors in skin sensation, homeostasis, and inflammation.

Authors:  Michael J Caterina
Journal:  ACS Chem Neurosci       Date:  2014-06-17       Impact factor: 4.418

Review 9.  TRPV3 in Drug Development.

Authors:  Lisa M Broad; Adrian J Mogg; Elizabeth Eberle; Marcia Tolley; Dominic L Li; Kelly L Knopp
Journal:  Pharmaceuticals (Basel)       Date:  2016-09-09

10.  Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.

Authors:  Filiz Topaloğlu Demir; Ceyda Çaytemel; Nazlı Caf; Zafer Türkoğlu; Mesut Ayer; Nesimi Büyükbabani
Journal:  Indian J Dermatol       Date:  2021 Sep-Oct       Impact factor: 1.494
  10 in total

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