Literature DB >> 28906551

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

A Hotz1, C Fagerberg2, A Vahlquist3, A Bygum4, H Törmä3, M-A Rauschendorf1, H Zhang3, L Heinz1,5, E Bourrat6, I Hausser7, V Vestergaard8, A Dragomir9, A D Zimmer1, J Fischer1.   

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Year:  2018        PMID： 28906551     DOI： 10.1111/bjd.15994

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


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  4 in total

1.  SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

Authors:  Takuya Takeichi; Tetsuya Hirabayashi; Yuki Miyasaka; Akane Kawamoto; Yusuke Okuno; Shijima Taguchi; Kana Tanahashi; Chiaki Murase; Hiroyuki Takama; Kosei Tanaka; William E Boeglin; M Wade Calcutt; Daisuke Watanabe; Michihiro Kono; Yoshinao Muro; Junko Ishikawa; Tamio Ohno; Alan R Brash; Masashi Akiyama
Journal:  J Clin Invest       Date:  2020-02-03       Impact factor: 14.808

2.  Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Authors:  Juliette Mazereeuw-Hautier; Maella Severino-Freire; Véronique Gaston; Hélène Texier; Marie Vincent; Hélène Aubert; Fanny Morice-Picard; Nathalie Jonca
Journal:  Acta Derm Venereol       Date:  2020-02-05       Impact factor: 3.875

Review 3.  Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Authors:  Jouni Uitto; Leila Youssefian; Amir Hossein Saeidian; Hassan Vahidnezhad
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

Review 4.  Genetics of Inherited Ichthyoses and Related Diseases.

Authors:  Judith Fischer; Emmanuelle Bourrat
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875
  4 in total

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