Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Literature DB >> 24463422

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Ori Eytan¹, Dana Fuchs-Telem¹, Baruch Mevorach², Margarita Indelman³, Reuven Bergman³, Ofer Sarig², Ilan Goldberg², Noam Adir⁴, Eli Sprecher⁵.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 24463422 DOI： 10.1038/jid.2014.37

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

× No keyword cloud information.

18 in total

1. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

Authors: Zhimiao Lin; Quan Chen; Mingyang Lee; Xu Cao; Jie Zhang; Donglai Ma; Long Chen; Xiaoping Hu; Huijun Wang; Xiaowen Wang; Peng Zhang; Xuanzhu Liu; Liping Guan; Yiquan Tang; Haizhen Yang; Ping Tu; Dingfang Bu; Xuejun Zhu; KeWei Wang; Ruoyu Li; Yong Yang
Journal: Am J Hum Genet Date: 2012-03-09 Impact factor: 11.025

2. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling.

Authors: Konstantin Arnold; Lorenza Bordoli; Jürgen Kopp; Torsten Schwede
Journal: Bioinformatics Date: 2005-11-13 Impact factor: 6.937

Review 3. TRPV3: time to decipher a poorly understood family member!

Authors: Bernd Nilius; Tamás Bíró; Grzegorz Owsianik
Journal: J Physiol Date: 2013-07-08 Impact factor: 5.182

4. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Authors: Alireza Haghighi; Claire A Scott; Daniel S Poon; Reza Yaghoobi; Nasrollah Saleh-Gohari; Vincent Plagnol; David P Kelsell
Journal: J Invest Dermatol Date: 2012-08-30 Impact factor: 8.551

Review 5. Transient receptor potential channels and dermatological disorders.

Authors: Rodrigo Valdes-Rodriguez; Shivani B Kaushik; Gil Yosipovitch
Journal: Curr Top Med Chem Date: 2013 Impact factor: 3.295

6. Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Authors: Dan Ciubotaru; Reuven Bergman; David Baty; Margarita Indelman; Ellen Pfendner; Danny Petronius; Hannah Moualem; Moien Kanaan; Danny Ben Amitai; W H Irwin McLean; Jouni Uitto; Eli Sprecher
Journal: Arch Dermatol Date: 2003-04

7. TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation.

Authors: Xiping Cheng; Jie Jin; Lily Hu; Dongbiao Shen; Xian-Ping Dong; Mohammad A Samie; Jayne Knoff; Brian Eisinger; Mei-Ling Liu; Susan M Huang; Michael J Caterina; Peter Dempsey; Lowell Evan Michael; Andrzej A Dlugosz; Nancy C Andrews; David E Clapham; Haoxing Xu
Journal: Cell Date: 2010-04-16 Impact factor: 41.582

8. Activation of transient receptor potential vanilloid-3 inhibits human hair growth.

Authors: István Borbíró; Erika Lisztes; Balázs I Tóth; Gabriella Czifra; Attila Oláh; Attila G Szöllosi; Norbert Szentandrássy; Péter P Nánási; Zoltán Péter; Ralf Paus; László Kovács; Tamás Bíró
Journal: J Invest Dermatol Date: 2011-05-19 Impact factor: 8.551

9. Voltage- and temperature-dependent activation of TRPV3 channels is potentiated by receptor-mediated PI(4,5)P2 hydrolysis.

Authors: Julia F Doerner; Hanns Hatt; I Scott Ramsey
Journal: J Gen Physiol Date: 2011-02-14 Impact factor: 4.086

10. Overexpressed transient receptor potential vanilloid 3 ion channels in skin keratinocytes modulate pain sensitivity via prostaglandin E2.

Authors: Susan M Huang; Hyosang Lee; Man-Kyo Chung; Una Park; Yin Yin Yu; Heather B Bradshaw; Pierre A Coulombe; J Michael Walker; Michael J Caterina
Journal: J Neurosci Date: 2008-12-17 Impact factor: 6.167

15 in total

Review 10. 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

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

1. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

2. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling.

Review 3. TRPV3: time to decipher a poorly understood family member!

4. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Review 5. Transient receptor potential channels and dermatological disorders.

6. Epidermolysis bullosa simplex in Israel: clinical and genetic features.

7. TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation.

8. Activation of transient receptor potential vanilloid-3 inhibits human hair growth.

9. Voltage- and temperature-dependent activation of TRPV3 channels is potentiated by receptor-mediated PI(4,5)P2 hydrolysis.

10. Overexpressed transient receptor potential vanilloid 3 ion channels in skin keratinocytes modulate pain sensitivity via prostaglandin E2.

Review 1. [Palmoplantar dermatoses: when should genes be considered?].

Review 2. Olmsted syndrome: clinical, molecular and therapeutic aspects.

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

4. Expanding the Phenotypic Spectrum of Olmsted Syndrome.

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

6. TRP channels in health and disease at a glance.

Review 7. Diagnosis and Management of Inherited Palmoplantar Keratodermas.

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

Review 9. TRP channel cannabinoid receptors in skin sensation, homeostasis, and inflammation.

Review 10. TRPV3 in Drug Development.