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6. Protein phosphatase activity in human keratinocytes cultured from normal epidermis and epidermis from patients with harlequin ichthyosis. Kam E; Nirunsuksiri W; Hager B; Fleckman P; Dale BA Br J Dermatol; 1997 Dec; 137(6):874-82. PubMed ID: 9470902 [TBL] [Abstract][Full Text] [Related]
7. Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. Dale BA; Holbrook KA; Fleckman P; Kimball JR; Brumbaugh S; Sybert VP J Invest Dermatol; 1990 Jan; 94(1):6-18. PubMed ID: 1688598 [TBL] [Abstract][Full Text] [Related]
9. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. Zhang L; Ferreyros M; Feng W; Hupe M; Crumrine DA; Chen J; Elias PM; Holleran WM; Niswander L; Hohl D; Williams T; Torchia EC; Roop DR PLoS One; 2016; 11(8):e0161465. PubMed ID: 27551807 [TBL] [Abstract][Full Text] [Related]
12. Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis. Akiyama M; Yoneda K; Kim SY; Koyama H; Shimizu H J Cutan Pathol; 1996 Dec; 23(6):571-5. PubMed ID: 9001990 [TBL] [Abstract][Full Text] [Related]
13. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. Akiyama M; Sakai K; Sugiyama-Nakagiri Y; Yamanaka Y; McMillan JR; Sawamura D; Niizeki H; Miyagawa S; Shimizu H J Invest Dermatol; 2006 Jul; 126(7):1518-23. PubMed ID: 16675967 [TBL] [Abstract][Full Text] [Related]
14. The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. Akiyama M Biochim Biophys Acta; 2014 Mar; 1841(3):435-40. PubMed ID: 23954554 [TBL] [Abstract][Full Text] [Related]