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 A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

Literature DB >> 25285920

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

Yuqing He¹, Kang Zeng², Xibao Zhang³, Qiaolin Chen⁴, Jiang Wu⁵, Hong Li⁶, Yong Zhou⁶, Gustavo Glusman⁶, Jared Roach⁶, Alton Etheridge⁷, Shizhen Qing⁶, Qiang Tian⁶, Inyoul Lee⁶, Xin Tian⁸, Xiaoning Wang⁴, Zhihua Wu⁹, Leroy Hood⁶, Yuanlin Ding⁹, Kai Wang¹⁰.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2014 PMID： 25285920 DOI： 10.1038/jid.2014.429

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

× No keyword cloud information.

13 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. TRPV channel expression in human skin and possible role in thermally induced cell death.

Authors: Christine Radtke; Nektarios Sinis; Michael Sauter; Sabrina Jahn; Udo Kraushaar; Elke Guenther; H Peter Rodemann; Hans-Oliver Rennekampff
Journal: J Burn Care Res Date: 2011 Jan-Feb Impact factor: 1.845

3. Cross-regulation between Notch and p63 in keratinocyte commitment to differentiation.

Authors: Bach-Cuc Nguyen; Karine Lefort; Anna Mandinova; Dario Antonini; Vikram Devgan; Giusy Della Gatta; Maranke I Koster; Zhuo Zhang; Jian Wang; Alice Tommasi di Vignano; Jan Kitajewski; Giovanna Chiorino; Dennis R Roop; Caterina Missero; G Paolo Dotto
Journal: Genes Dev Date: 2006-04-15 Impact factor: 11.361

Review 4. The Mad side of the Max network: antagonizing the function of Myc and more.

Authors: S Rottmann; B Lüscher
Journal: Curr Top Microbiol Immunol Date: 2006 Impact factor: 4.291

Review 5. 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

6. Ovol2 suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing c-Myc and Notch1.

Authors: Julie Wells; Briana Lee; Anna Qianyao Cai; Adrine Karapetyan; Wan-Ju Lee; Elizabeth Rugg; Satrajit Sinha; Qing Nie; Xing Dai
Journal: J Biol Chem Date: 2009-08-21 Impact factor: 5.157

Review 7. Transient receptor potential channels - emerging novel drug targets for the treatment of pain.

Authors: Kinga Sałat; Andrzej Moniczewski; Tadeusz Librowski
Journal: Curr Med Chem Date: 2013 Impact factor: 4.530

8. 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

Review 9. The palmoplantar keratodermas: much more than palms and soles.

Authors: D P Kelsell; H P Stevens
Journal: Mol Med Today Date: 1999-03

10. Nuclear Krüppel-like factor 4 expression is associated with human skin squamous cell carcinoma progression and metastasis.

Authors: Yi-Ju Chen; Chun-Ying Wu; Chia-Che Chang; Chieh-Ju Ma; Mu-Chun Li; Chuan-Mu Chen
Journal: Cancer Biol Ther Date: 2008-05-20 Impact factor: 4.742

11 in total

1. The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists.

Authors: Seong Woo Choi; Si Won Choi; Jeesoo Chae; Hae Young Yoo; Jong-Il Kim; Sung Joon Kim
Journal: Pflugers Arch Date: 2019-10-14 Impact factor: 3.657

2. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.

Authors: Elena Dellambra; Sonia Cordisco; Francesca Delle Monache; Sergio Bondanza; Massimo Teson; Ezio Maria Nicodemi; Biagio Didona; Angelo Giuseppe Condorelli; Giovanna Camerino; Daniele Castiglia; Liliana Guerra
Journal: Orphanet J Rare Dis Date: 2022-07-19 Impact factor: 4.303

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

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

2. TRPV channel expression in human skin and possible role in thermally induced cell death.

3. Cross-regulation between Notch and p63 in keratinocyte commitment to differentiation.

Review 4. The Mad side of the Max network: antagonizing the function of Myc and more.

Review 5. TRPV3: time to decipher a poorly understood family member!

6. Ovol2 suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing c-Myc and Notch1.

Review 7. Transient receptor potential channels - emerging novel drug targets for the treatment of pain.

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

Review 9. The palmoplantar keratodermas: much more than palms and soles.

10. Nuclear Krüppel-like factor 4 expression is associated with human skin squamous cell carcinoma progression and metastasis.

1. The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists.

2. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.

3. Olmutinib-induced palmoplantar keratoderma.

Review 4. Olmsted syndrome: clinical, molecular and therapeutic aspects.

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

6. Expanding the Phenotypic Spectrum of Olmsted Syndrome.

Review 7. TRP Channels in Skin Biology and Pathophysiology.

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

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

10. Nagashima-type palmoplantar keratosis in a Chinese Han population.