Literature DB >> 24329728

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.

H Niizeki1, A Shiohama, T Sasaki, A Seki, K Kabashima, A Otsuka, M Takeshita, A Hirakiyama, T Okuyama, K Tanese, A Ishiko, M Amagai, J Kudoh.   

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Year:  2014        PMID： 24329728     DOI： 10.1111/bjd.12790

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


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  6 in total

Review 1.  Roles of Organic Anion Transporting Polypeptide 2A1 (OATP2A1/SLCO2A1) in Regulating the Pathophysiological Actions of Prostaglandins.

Authors:  Takeo Nakanishi; Ikumi Tamai
Journal:  AAPS J       Date:  2017-12-04       Impact factor: 4.009

2.  Facial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases.

Authors:  Xiang Wen; Yong Li; Michael R Hamblin; Xian Jiang
Journal:  Acta Derm Venereol       Date:  2017-06-09       Impact factor: 4.437

3.  Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Authors:  Sihoon Lee; So Young Park; Hyun Jin Kwon; Chul-Ho Lee; Ok-Hwa Kim; Yumie Rhee
Journal:  J Korean Med Sci       Date:  2016-03-22       Impact factor: 2.153

4.  A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.

Authors:  Junji Umeno; Tadakazu Hisamatsu; Motohiro Esaki; Atsushi Hirano; Naoya Kubokura; Kouichi Asano; Shuji Kochi; Shunichi Yanai; Yuta Fuyuno; Katsuyoshi Shimamura; Naoki Hosoe; Haruhiko Ogata; Takashi Watanabe; Kunihiko Aoyagi; Hidehisa Ooi; Kenji Watanabe; Shigeyoshi Yasukawa; Fumihito Hirai; Toshiyuki Matsui; Mitsuo Iida; Tsuneyoshi Yao; Toshifumi Hibi; Kenjiro Kosaki; Takanori Kanai; Takanari Kitazono; Takayuki Matsumoto
Journal:  PLoS Genet       Date:  2015-11-05       Impact factor: 5.917

5.  Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.

Authors:  Hui Huang; Yongjun Wang; Yong Cao; Boda Wu; Yonggui Li; Liangliang Fan; Zhiping Tan; Yi Jiang; Jianguang Tang; Jianzhong Hu; Xiaoliu Shi
Journal:  Sci Rep       Date:  2017-08-29       Impact factor: 4.379

6.  Novel SLCO2A1 mutations cause gender differentiated pachydermoperiostosis.

Authors:  Lijuan Yuan; Xihui Chen; Ziyu Liu; Dan Wu; Jianguo Lu; Guoqiang Bao; Sijia Zhang; lIfeng Wang; Yuanming Wu
Journal:  Endocr Connect       Date:  2018-08-01       Impact factor: 3.335
  6 in total

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