Literature DB >> 16792777

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.

S F Rajpar1, T Cullup, D P Kelsell, C Moss.   

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Year:  2006        PMID： 16792777     DOI： 10.1111/j.1365-2133.2006.07291.x

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


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  2 in total

1.  ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.

Authors:  Ying Zuo; Debbie Z Zhuang; Rong Han; Giorgis Isaac; Jennifer J Tobin; Mary McKee; Ruth Welti; Janice L Brissette; Michael L Fitzgerald; Mason W Freeman
Journal:  J Biol Chem       Date:  2008-10-27       Impact factor: 5.157

2.  Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

Authors:  Yiwen Wang; Michaela Norum; Kathrin Oehl; Yang Yang; Renata Zuber; Jing Yang; Jean-Pierre Farine; Nicole Gehring; Matthias Flötenmeyer; Jean-François Ferveur; Bernard Moussian
Journal:  PLoS Genet       Date:  2020-01-13       Impact factor: 5.917
  2 in total

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