Literature DB >> 33554266

Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid.

Yuki Arisawa1, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Takuya Takeichi, Masashi Akiyama.   

Abstract

Entities:  

Keywords:  mevalonate pathway; mutation; autoinflammation

Mesh：

Substances：

Year:  2021        PMID： 33554266      PMCID： PMC9366709          DOI： 10.2340/00015555-3764

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  10 in total

1.  Development of segmental superficial actinic porokeratosis during immunosuppressive therapy for pemphigus vulgaris.

Authors:  Timo Buhl; B Gregor Wienrich; Claudia Sieblist; Michael P Schön; Cornelia S Seitz
Journal:  Acta Derm Venereol       Date:  2010-03       Impact factor: 4.437

2.  A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only.

Authors:  T Taki; T Takeichi; M Kono; K Sugiura; Y Sugimura; N Ishii; T Hashimoto; M Akiyama
Journal:  Br J Dermatol       Date:  2019-09-01       Impact factor: 9.302

3.  Familial or sporadic porokeratosis as an autoinflammatory keratinization disease.

Authors:  Takuya Takeichi; Masashi Akiyama
Journal:  J Dermatol       Date:  2018-09-28       Impact factor: 4.005

4.  Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

Authors:  Lihi Atzmony; Habib M Khan; Young H Lim; Amy S Paller; Jonathan L Levinsohn; Kristen E Holland; Fatima Nadeem Mirza; Emily Yin; Christine J Ko; Jonathan S Leventhal; Keith A Choate
Journal:  JAMA Dermatol       Date:  2019-05-01       Impact factor: 10.282

Review 5.  Porokeratosis of Mibelli. Overview and review of the literature.

Authors:  J M Schamroth; A Zlotogorski; L Gilead
Journal:  Acta Derm Venereol       Date:  1997-05       Impact factor: 4.437

6.  Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

Authors:  Lihi Atzmony; Young H Lim; Claire Hamilton; Jonathan S Leventhal; Annette Wagner; Amy S Paller; Keith A Choate
Journal:  J Am Acad Dermatol       Date:  2019-08-23       Impact factor: 11.527

7.  HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Authors:  Johan T den Dunnen; Raymond Dalgleish; Donna R Maglott; Reece K Hart; Marc S Greenblatt; Jean McGowan-Jordan; Anne-Francoise Roux; Timothy Smith; Stylianos E Antonarakis; Peter E M Taschner
Journal:  Hum Mutat       Date:  2016-03-25       Impact factor: 4.878

8.  Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.

Authors:  Akiharu Kubo; Takashi Sasaki; Hisato Suzuki; Aiko Shiohama; Satomi Aoki; Showbu Sato; Harumi Fujita; Noriko Ono; Noriko Umegaki-Arao; Tomoko Kawai; Kazuhiko Nakabayashi; Kenichiro Hata; Daisuke Yamada; Yoichi Matsubara; Kenjiro Kosaki; Masayuki Amagai
Journal:  J Invest Dermatol       Date:  2019-06-15       Impact factor: 8.551

9.  Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.

Authors:  Yunji Leng; Lulu Yan; Hongquan Feng; Chen Chen; Shusen Wang; Yang Luo; Lihua Cao
Journal:  J Dermatol       Date:  2018-05-03       Impact factor: 4.005

10.  Correction: Genomic variations of the mevalonate pathway in porokeratosis.

Authors:  Zhenghua Zhang; Caihua Li; Fei Wu; Ruixiao Ma; Jing Luan; Feng Yang; Weida Liu; Li Wang; Shoumin Zhang; Yan Liu; Jun Gu; Wenlian Hua; Min Fan; Hua Peng; Xuemei Meng; Ningjing Song; Xinling Bi; Chaoying Gu; Zhen Zhang; Qiong Huang; Lianjun Chen; Leihong Xiang; Jinhua Xu; Zhizhong Zheng; Zhengwen Jiang
Journal:  Elife       Date:  2016-01-27       Impact factor: 8.140
  10 in total

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