Literature DB >> 23871423

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Kazumitsu Sugiura1, Takuya Takeichi, Kana Tanahashi, Yasutomo Ito, Tomoki Kosho, Ken Saida, Hisashi Uhara, Ryuhei Okuyama, Masashi Akiyama.   

Abstract

Entities:  

Keywords:  CYP4F22; Collodion baby; Compound heterozygous mutations; Japanese; Lamellar ichthyosis; Outside Mediterranean

Mesh：

Substances：

Year:  2013        PMID： 23871423     DOI： 10.1016/j.jdermsci.2013.06.008

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  6 in total

1.  Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.

Authors:  Yusuke Ohno; Shota Nakamichi; Aya Ohkuni; Nozomi Kamiyama; Ayano Naoe; Hisashi Tsujimura; Urara Yokose; Kazumitsu Sugiura; Junko Ishikawa; Masashi Akiyama; Akio Kihara
Journal:  Proc Natl Acad Sci U S A       Date:  2015-06-08       Impact factor: 11.205

2.  Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide.

Authors:  Haruka Yamamoto; Miku Hattori; Walee Chamulitrat; Yusuke Ohno; Akio Kihara
Journal:  Proc Natl Acad Sci U S A       Date:  2020-01-23       Impact factor: 11.205

3.  Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Authors:  Sami Raja Alallasi; Amal A Kokandi; Babajan Banagnapali; Noor Ahmad Shaik; Bandar Ali Al-Shehri; Nuha Mohammad Alrayes; Jumana Yousuf Al-Aama; Musharraf Jelani
Journal:  Front Pediatr       Date:  2019-02-21       Impact factor: 3.418

4.  Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Authors:  Haiyan Tang; Xiaoliu Shi; Guiying Zhang
Journal:  Clin Case Rep       Date:  2021-12-05

5.  Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.

Authors:  Maria Elena Cucuzza; Flavia La Mendola; Angela D'Ambra; Pierluigi Smilari; Filippo Greco; Agata Fiumara; Andrea D Praticò
Journal:  J Glob Infect Dis       Date:  2018 Jul-Sep

6.  Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Authors:  Uxia Esperón-Moldes; Manuel Ginarte-Val; Laura Rodríguez-Pazos; Laura Fachal; Ana Martín-Santiago; Asunción Vicente; David Jiménez-Gallo; Encarna Guillén-Navarro; Loreto Martorell Sampol; María Antonia González-Enseñat; Ana Vega
Journal:  PLoS One       Date:  2020-02-18       Impact factor: 3.240
  6 in total

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