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Chem."},{"key":"10.1194\/jlr.R800002-JLR200_bib151","doi-asserted-by":"crossref","first-page":"13069","DOI":"10.1016\/S0021-9258(18)45168-X","article-title":"Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid","volume":"262","author":"Rearick","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1194\/jlr.R800002-JLR200_bib152","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/jcp.1041330320","article-title":"Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro","volume":"133","author":"Rearick","year":"1987","journal-title":"J. Cell. 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(Tokyo)."},{"key":"10.1194\/jlr.R800002-JLR200_bib165","first-page":"149","article-title":"Specific protein kinase C isozymes mediate the induction of keratinocyte differentiation markers by calcium","volume":"6","author":"Denning","year":"1995","journal-title":"Cell Growth Differ."},{"key":"10.1194\/jlr.R800002-JLR200_bib166","first-page":"943","article-title":"Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C","volume":"5","author":"Ikuta","year":"1994","journal-title":"Cell Growth Differ."},{"key":"10.1194\/jlr.R800002-JLR200_bib167","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S1383-5742(00)00036-3","article-title":"Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: a review","volume":"462","author":"Kuroki","year":"2000","journal-title":"Mutat. Res."},{"key":"10.1194\/jlr.R800002-JLR200_bib168","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1046\/j.1523-1747.1998.00441.x","article-title":"Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes","volume":"111","author":"Kawabe","year":"1998","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib169","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/S0022-2275(20)31663-1","article-title":"Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D","volume":"42","author":"Hanley","year":"2001","journal-title":"J. Lipid Res."},{"key":"10.1194\/jlr.R800002-JLR200_bib170","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1365-2133.1993.tb00482.x","article-title":"Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate","volume":"129","author":"Lavrijsen","year":"1993","journal-title":"Br. J. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib171","doi-asserted-by":"crossref","first-page":"202","DOI":"10.2340\/0001555575198201","article-title":"Skin barrier properties in patients with recessive X-linked ichthyosis","volume":"75","author":"Johansen","year":"1995","journal-title":"Acta Derm. Venereol."},{"key":"10.1194\/jlr.R800002-JLR200_bib172","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1046\/j.1523-1747.1998.00386.x","article-title":"Recessive X-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality","volume":"111","author":"Zettersten","year":"1998","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib173","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1172\/JCI114899","article-title":"Cholesterol synthesis is required for cutaneous barrier function in mice","volume":"86","author":"Feingold","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1194\/jlr.R800002-JLR200_bib174","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/S0022-2275(20)38627-2","article-title":"Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts","volume":"28","author":"Williams","year":"1987","journal-title":"J. Lipid Res."},{"key":"10.1194\/jlr.R800002-JLR200_bib175","doi-asserted-by":"crossref","first-page":"2636","DOI":"10.1074\/jbc.275.4.2636","article-title":"Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine","volume":"275","author":"Nemes","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1194\/jlr.R800002-JLR200_bib176","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/jid.1966.185","article-title":"The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation","volume":"47","author":"Frost","year":"1966","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib177","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1046\/j.1523-1747.2000.00820.x","article-title":"Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process?","volume":"114","author":"Ekholm","year":"2000","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib178","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1046\/j.1523-1747.1998.00356.x","article-title":"The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the \u201cacid skin mantle\u201d?","volume":"111","author":"Ohman","year":"1998","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib179","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/S0190-9622(84)80144-9","article-title":"The epidermal cholesterol sulfate cycle","volume":"10","author":"Epstein","year":"1984","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib180","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1111\/1523-1747.ep12525375","article-title":"Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets","volume":"88","author":"Abraham","year":"1987","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib181","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1021\/bi981421k","article-title":"A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH","volume":"38","author":"Hatfield","year":"1999","journal-title":"Biochemistry."},{"key":"10.1194\/jlr.R800002-JLR200_bib182","doi-asserted-by":"crossref","first-page":"F163","DOI":"10.1136\/fn.82.2.F163","article-title":"Type 2 Gaucher disease: the collodion baby phenotype revisited","volume":"82","author":"Stone","year":"2000","journal-title":"Arch. Dis. Child. Fetal Neonatal Ed."},{"key":"10.1194\/jlr.R800002-JLR200_bib183","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1172\/JCI117160","article-title":"Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease","volume":"93","author":"Holleran","year":"1994","journal-title":"J. Clin. Invest."},{"key":"10.1194\/jlr.R800002-JLR200_bib184","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2004.08.015","article-title":"Gaucher disease: complexity in a \u201csimple\u201d disorder","volume":"83","author":"Sidransky","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1194\/jlr.R800002-JLR200_bib185","first-page":"542","article-title":"Delayed epidermal permeability repair in patients with sphingomyelinase deficiency (Niemann-Pick disease)","volume":"112","author":"Schmuth","year":"1999","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib186","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1016\/S0022-2275(20)32369-5","article-title":"Epidermal sphingomyelins are precursors for selected stratum corneum ceramides","volume":"41","author":"Uchida","year":"2000","journal-title":"J. Lipid Res."},{"key":"10.1194\/jlr.R800002-JLR200_bib187","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1203\/00006450-199601000-00020","article-title":"Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease","volume":"39","author":"Sidransky","year":"1996","journal-title":"Pediatr. Res."},{"key":"10.1194\/jlr.R800002-JLR200_bib188","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1172\/JCI5307","article-title":"Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier","volume":"104","author":"Jensen","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1194\/jlr.R800002-JLR200_bib189","doi-asserted-by":"crossref","first-page":"2903","DOI":"10.1172\/JCI117997","article-title":"Glucosylceramides stimulate murine epidermal hyperproliferation","volume":"95","author":"Marsh","year":"1995","journal-title":"J. Clin. Invest."},{"key":"10.1194\/jlr.R800002-JLR200_bib190","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/S0923-1811(99)00024-9","article-title":"The pathogenesis of severe congenital ichthyosis of the neonate","volume":"21","author":"Akiyama","year":"1999","journal-title":"J. Dermatol. Sci."},{"key":"10.1194\/jlr.R800002-JLR200_bib191","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1111\/1523-1747.ep12614791","article-title":"Abnormal lamellar granules in harlequin ichthyosis","volume":"99","author":"Milner","year":"1992","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib192","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1046\/j.1523-1747.2000.00124-5.x","article-title":"Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes","volume":"115","author":"Elias","year":"2000","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib193","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/nature05626","article-title":"Structure of an ABC transporter in complex with its binding protein","volume":"446","author":"Hollenstein","year":"2007","journal-title":"Nature."},{"key":"10.1194\/jlr.R800002-JLR200_bib194","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1172\/JCI24834","article-title":"Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer","volume":"115","author":"Akiyama","year":"2005","journal-title":"J. Clin. Invest."},{"key":"10.1194\/jlr.R800002-JLR200_bib195","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1093\/hmg\/5.10.1649","article-title":"Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database","volume":"5","author":"Allikmets","year":"1996","journal-title":"Hum. Mol. 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J."},{"key":"10.1194\/jlr.R800002-JLR200_bib207","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.0022-202X.2004.23547.x","article-title":"A proteolytic cascade of kallikreins in the stratum corneum","volume":"124","author":"Brattsand","year":"2005","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib208","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1111\/j.0022-202X.2004.22512.x","article-title":"Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE\/KLK5\/hK5 and SCCE\/KLK7\/hK7","volume":"122","author":"Caubet","year":"2004","journal-title":"J. Invest. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib209","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1046\/j.1365-2133.1999.03038.x","article-title":"Role of endogenous cathepsin D-like and chymotrypsin-like proteolysis in human epidermal desquamation","volume":"141","author":"Horikoshi","year":"1999","journal-title":"Br. J. Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib210","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1086\/432556","article-title":"A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma","volume":"77","author":"Sprecher","year":"2005","journal-title":"Am. J. Hum. 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Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib219","series-title":"Neonatal-Perinatal Medicine","first-page":"481","article-title":"Physical environment","author":"Perlstein","year":"1997"},{"key":"10.1194\/jlr.R800002-JLR200_bib220","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0733-8635(18)30772-1","article-title":"Genetically transmitted, generalized disorders of cornification. The ichthyoses","volume":"5","author":"Williams","year":"1987","journal-title":"Dermatol. Clin."},{"key":"10.1194\/jlr.R800002-JLR200_bib221","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/00005176-200402000-00012","article-title":"Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure","volume":"38","author":"Fowler","year":"2004","journal-title":"J. Pediatr. Gastroenterol. 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Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib225","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1046\/j.1523-1747.2003.22258.x","article-title":"Basis for abnormal desquamation and permeability barrier dysfunction in RXLI","volume":"122","author":"Elias","year":"2004","journal-title":"J Invest Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib226","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1007\/s00018-005-5463-y","article-title":"Phytanic acid: production from phytol, its breakdown and role in human disease","volume":"63","author":"van den Brink","year":"2006","journal-title":"Cell Mol Life Sci."},{"key":"10.1194\/jlr.R800002-JLR200_bib227","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1111\/j.0022-202X.2004.23505.x","article-title":"Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjogren-Larsson syndrome","volume":"123","author":"Shibaki","year":"2004","journal-title":"J Invest Dermatol."},{"key":"10.1194\/jlr.R800002-JLR200_bib228","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1172\/JCI117160","article-title":"Consequences of beta-glucocerebrosidase deficiency in epidermis. 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