Inherited clinical disorders of lipid metabolism.

[1]  M. Akiyama,et al.  Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. , 2010, The Journal of investigative dermatology.

[2]  M. Akiyama,et al.  Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. , 2010, Journal of dermatological science.

[3]  P. Elias,et al.  Acute acidification of stratum corneum membrane domains using polyhydroxyl acids improves lipid processing and inhibits degradation of corneodesmosomes. , 2010, The Journal of investigative dermatology.

[4]  J. Fischer,et al.  Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. , 2010, The Journal of investigative dermatology.

[5]  P. Elias,et al.  Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion , 2010, Archives of Dermatological Research.

[6]  M. Kumari,et al.  Growth Retardation, Impaired Triacylglycerol Catabolism, Hepatic Steatosis, and Lethal Skin Barrier Defect in Mice Lacking Comparative Gene Identification-58 (CGI-58)* , 2009, The Journal of Biological Chemistry.

[7]  J. R. McMillan,et al.  ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. , 2009, The Journal of investigative dermatology.

[8]  R. Zechner,et al.  Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. , 2009, American journal of human genetics.

[9]  R. Zechner,et al.  Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. , 2009, American journal of physiology. Endocrinology and metabolism.

[10]  J. Fischer.  Autosomal recessive congenital ichthyosis. , 2009, The Journal of investigative dermatology.

[11]  J. Schalkwijk,et al.  The biology of cystatin M/E and its cognate target proteases. , 2009, The Journal of investigative dermatology.

[12]  Peter Krieg,et al.  Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. , 2009, The Journal of investigative dermatology.

[13]  H. Hennies,et al.  Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. , 2009, The Journal of investigative dermatology.

[14]  T. Hudson,et al.  Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord , 2008, PLoS genetics.

[15]  S. Steinberg,et al.  Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA , 2008, Journal of Medical Genetics.

[16]  P. Elias,et al.  On the effects of topical synthetic pseudoceramides: comparison of possible keratinocyte toxicities provoked by the pseudoceramides, PC104 and BIO391, and natural ceramides. , 2008, Journal of dermatological science.

[17]  P. Elias,et al.  "Outside-to-inside" (and now back to "outside") pathogenic mechanisms in atopic dermatitis. , 2008, The Journal of investigative dermatology.

[18]  P. Elias,et al.  Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism Published, JLR Papers in Press, February 2, 2008. , 2008, Journal of Lipid Research.

[19]  N. Brunetti‐Pierri,et al.  Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. , 2008, Archives of dermatology.

[20]  H. Mandel,et al.  Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. , 2008, Archives of dermatology.

[21]  D. Goudie,et al.  Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. , 2007, The Journal of investigative dermatology.

[22]  P. Steijlen,et al.  Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome , 2007, The British journal of dermatology.

[23]  J. R. McMillan,et al.  Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes , 2007, Experimental dermatology.

[24]  M. Akiyama,et al.  Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. , 2007, The Journal of investigative dermatology.

[25]  L. Laroche,et al.  A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome. , 2007, The Journal of investigative dermatology.

[26]  J. Moran,et al.  A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. , 2007, The Journal of investigative dermatology.

[27]  P. Watkins,et al.  Fatty Acid Transport Protein 4 Is the Principal Very Long Chain Fatty Acyl-CoA Synthetase in Skin Fibroblasts* , 2007, Journal of Biological Chemistry.

[28]  A. Brash,et al.  The hepoxilin connection in the epidermis , 2007, The FEBS journal.

[29]  J. R. McMillan,et al.  Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. , 2007, The American journal of pathology.

[30]  N. Dahl,et al.  Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis , 2007, Journal of Medical Genetics.

[31]  A. Brash,et al.  Epidermal Lipoxygenase Products of the Hepoxilin Pathway Selectively Activate the Nuclear Receptor PPARα , 2007, Lipids.

[32]  G. Schmitz,et al.  12R-lipoxygenase deficiency disrupts epidermal barrier function , 2007, The Journal of cell biology.

[33]  M. Lathrop,et al.  Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. , 2007, The Journal of investigative dermatology.

[34]  J. Auwerx,et al.  Peroxisome Proliferator-Activated Receptor-α Activation Inhibits Langerhans Cell Function1 , 2007, The Journal of Immunology.

[35]  K. Locher,et al.  Structure of an ABC transporter in complex with its binding protein , 2007, Nature.

[36]  N. Gordon.  Sjögren‐Larsson syndrome , 2007, Developmental medicine and child neurology.

[37]  Maria Ponec,et al.  The skin barrier in healthy and diseased state. , 2006, Biochimica et biophysica acta.

[38]  W. Stremmel,et al.  Cellular uptake of fatty acids driven by the ER-localized acyl-CoA synthetase FATP4 , 2006, Journal of Cell Science.

[39]  D. Kelsell,et al.  ABCA12 is the major harlequin ichthyosis gene. , 2006, The Journal of investigative dermatology.

[40]  P. Elias,et al.  Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). , 2006, The Journal of investigative dermatology.

[41]  Colin A. Johnson,et al.  Clinical and molecular genetic features of ARC syndrome , 2006, Human Genetics.

[42]  R. Wanders,et al.  Phytanic acid: production from phytol, its breakdown and role in human disease , 2006, Cellular and Molecular Life Sciences.

[43]  Petra C. Kienesberger,et al.  Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. , 2006, Cell metabolism.

[44]  R. Happle.  X‐chromosome inactivation: role in skin disease expression , 2006, Acta paediatrica.

[45]  R. Schiffmann,et al.  Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease , 2006, Clinical genetics.

[46]  K. Grzeschik,et al.  Clinical variation in X‐linked dominant chondrodysplasia punctata (X‐linked dominant ichthyosis) , 2006, The British journal of dermatology.

[47]  M. Lathrop,et al.  Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. , 2006, Human molecular genetics.

[48]  L. Bernier,et al.  Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene. , 2006, Archives of dermatology.

[49]  P. Elias,et al.  Differential expression of fatty acid transport proteins in epidermis and skin appendages. , 2005, The Journal of investigative dermatology.

[50]  P. Elias,et al.  LXR and PPAR activators stimulate cholesterol sulfotransferase type 2 isoform 1b in human keratinocytes Published, JLR Papers in Press, September 8, 2005. DOI 10.1194/jlr.M500235-JLR200 , 2005, Journal of Lipid Research.

[51]  Erik Postma,et al.  Selection on Heritable Phenotypic Plasticity in a Wild Bird Population , 2005, Science.

[52]  J. Lloreta,et al.  Erythrokeratoderma variabilis‐like ichthyosis in Chanarin–Dorfman syndrome , 2005, The British journal of dermatology.

[53]  H. Hennies,et al.  Mutation spectrum and functional analysis of epidermis‐type lipoxygenases in patients with autosomal recessive congenital ichthyosis , 2005, Human mutation.

[54]  Hanna Mandel,et al.  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. , 2005, American journal of human genetics.

[55]  J. R. McMillan,et al.  Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. , 2005, The Journal of clinical investigation.

[56]  D. Kelsell,et al.  Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. , 2005, American journal of human genetics.

[57]  Thomas G. Saba,et al.  An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22 , 2005, Human Genetics.

[58]  A. Brash,et al.  Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. , 2005, Biochimica et biophysica acta.

[59]  M. Akiyama,et al.  Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. , 2004, The Journal of investigative dermatology.

[60]  G. Richard.  Molecular genetics of the ichthyoses , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[61]  M. Lathrop,et al.  Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. , 2004, Human molecular genetics.

[62]  E. Sidransky.  Gaucher disease: complexity in a "simple" disorder. , 2004, Molecular genetics and metabolism.

[63]  T. Osumi,et al.  CGI-58 Interacts with Perilipin and Is Localized to Lipid Droplets , 2004, Journal of Biological Chemistry.

[64]  P. Elias,et al.  Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. , 2004, The Journal of pediatrics.

[65]  M. Simon,et al.  Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. , 2004, The Journal of investigative dermatology.

[66]  Yuko Higashi,et al.  Expression of cholesterol sulfotransferase (SULT2B1b) in human skin and primary cultures of human epidermal keratinocytes. , 2004, The Journal of investigative dermatology.

[67]  Richard C Trembath,et al.  Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome , 2004, Nature Genetics.

[68]  Jim E Riviere,et al.  Skin toxicity of jet fuels: ultrastructural studies and the effects of substance P. , 2004, Toxicology and applied pharmacology.

[69]  U. Rassner,et al.  Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. , 2004, The Journal of investigative dermatology.

[70]  G. Herman,et al.  Inborn errors of sterol biosynthesis. , 2003, Annual review of genomics and human genetics.

[71]  M. Akiyama,et al.  Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. , 2003, The Journal of investigative dermatology.

[72]  J. Weissenbach,et al.  Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. , 2003, Human molecular genetics.

[73]  Kenneth R Feingold,et al.  pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion. , 2003, The Journal of investigative dermatology.

[74]  L. Marnett,et al.  The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[75]  C. Norem,et al.  Maternal Serum Unconjugated Estriol as a Predictor for Smith–Lemli–Opitz Syndrome and Other Fetal Conditions , 2003, Obstetrics and gynecology.

[76]  Yuko Higashi,et al.  Cholesterol sulfate in human physiology: what's it all about? , 2003, Journal of lipid research.

[77]  J. Taipale,et al.  A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis , 2003, Nature Genetics.

[78]  P. Westermark,et al.  The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. , 2003, Acta dermato-venereologica. Supplementum.

[79]  M. Akiyama,et al.  The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis , 2003, Clinical and experimental dermatology.

[80]  T. Kuroki,et al.  Protein kinase C eta (PKC eta): its involvement in keratinocyte differentiation. , 2002, Journal of biochemistry.

[81]  J. Auwerx,et al.  Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero. , 2002, The Journal of investigative dermatology.

[82]  P. Elias,et al.  Stratum corneum pH: Formation and Function of the ‘Acid Mantle’ , 2002, Exogenous Dermatology.

[83]  R. Sutphen,et al.  Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome) , 2002, Genetics in Medicine.

[84]  C. Strott.  Sulfonation and molecular action. , 2002, Endocrine reviews.

[85]  Eric F. Johnson,et al.  The CYP4A Isoforms Hydroxylate Epoxyeicosatrienoic Acids to Form High Affinity Peroxisome Proliferator-activated Receptor Ligands* , 2002, The Journal of Biological Chemistry.

[86]  A. Oranje,et al.  Collodion baby: a follow‐up study of 17 cases , 2002, Journal of the European Academy of Dermatology and Venereology : JEADV.

[87]  R. Flaumenhaft,et al.  Subcellular distribution of 3 functional platelet SNARE proteins: human cellubrevin, SNAP-23, and syntaxin 2. , 2002, Blood.

[88]  P. Elias,et al.  Basis for the permeability barrier abnormality in lamellar ichthyosis , 2002, Experimental dermatology.

[89]  J. Wyllie,et al.  ARC syndrome: an expanding range of phenotypes , 2001, Archives of disease in childhood.

[90]  J. Weissenbach,et al.  Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. , 2001, American journal of human genetics.

[91]  P. Roche,et al.  SNAP-29 is a promiscuous syntaxin-binding SNARE. , 2001, Biochemical and biophysical research communications.

[92]  F. Gabreëls,et al.  Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. , 2001, Brain : a journal of neurology.

[93]  F. Marks,et al.  A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. , 2001, Genomics.

[94]  P. Elias,et al.  Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D. , 2001, Journal of lipid research.

[95]  A. Rzhetsky,et al.  The human ATP-binding cassette (ABC) transporter superfamily. , 2001, Genome research.

[96]  P. Elias,et al.  Epidermal sphingomyelins are precursors for selected stratum corneum ceramides. , 2000, Journal of lipid research.

[97]  T. Ogata,et al.  Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. , 2000, American journal of medical genetics.

[98]  P. Elias,et al.  Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes. , 2000, The Journal of investigative dermatology.

[99]  P. Halban,et al.  Membrane localization and biological activity of SNAP-25 cysteine mutants in insulin-secreting cells. , 2000, Journal of cell science.

[100]  W. Rizzo,et al.  Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. , 2000, Journal of lipid research.

[101]  N. Huh,et al.  Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: a review. , 2000, Mutation research.

[102]  T. L. Jones,et al.  A proline-rich region and nearby cysteine residues target XLalphas to the Golgi complex region. , 2000, Molecular biology of the cell.

[103]  R. Antón,et al.  Stereoselective biosynthesis of hepoxilin B3 in human epidermis. , 2000, The Journal of investigative dermatology.

[104]  J. Weissenbach,et al.  Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. , 2000, American journal of human genetics.

[105]  N. Braverman,et al.  CHILD syndrome caused by deficiency of 3β‐hydroxysteroid‐Δ8, Δ7‐isomerase , 2000 .

[106]  K. Grzeschik,et al.  Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. , 2000, American journal of medical genetics.

[107]  M. Krönke,et al.  Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier. , 1999, The Journal of clinical investigation.

[108]  C. Wouters,et al.  Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). , 1999, American journal of medical genetics.

[109]  M. Akiyama,et al.  The pathogenesis of severe congenital ichthyosis of the neonate. , 1999, Journal of dermatological science.

[110]  Igarashi,et al.  Role of endogenous cathepsin D‐like and chymotrypsin‐like proteolysis in human epidermal desquamation , 1999, The British journal of dermatology.

[111]  J. Derry,et al.  Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata , 1999, Nature Genetics.

[112]  A. Moser,et al.  Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome , 1999, Nature Genetics.

[113]  S. Nigam,et al.  Hepoxilin signaling in intact human neutrophils: biphasic elevation of intracellular calcium by unesterified hepoxilin A3 , 1999, FEBS letters.

[114]  P. Elias,et al.  Induction of selected lipid metabolic enzymes and differentiation-linked structural proteins by air exposure in fetal rat skin explants. , 1999, The Journal of investigative dermatology.

[115]  L. Fung,et al.  A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH. , 1999, Biochemistry.

[116]  R. Scheller,et al.  Three Novel Proteins of the Syntaxin/SNAP-25 Family* , 1998, The Journal of Biological Chemistry.

[117]  T. Kuroki,et al.  Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes. , 1998, The Journal of investigative dermatology.

[118]  P. Elias,et al.  Recessive x-Linked Ichthyosis: Role of Cholesterol-Sulfate Accumulation in the Barrier Abnormality , 1998 .

[119]  P. Elias,et al.  Expression and regulation of mRNA for putative fatty acid transport related proteins and fatty acyl CoA synthase in murine epidermis and cultured human keratinocytes. , 1998, The Journal of investigative dermatology.

[120]  A. Vahlquist,et al.  The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"? , 1998, The Journal of investigative dermatology.

[121]  U. Rassner,et al.  The secretory granular cell: the outermost granular cell as a specialized secretory cell. , 1998, The journal of investigative dermatology. Symposium proceedings.

[122]  M. Denda,et al.  Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. , 1998, The Journal of investigative dermatology.

[123]  S. Aftimos,et al.  X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? , 1998, American journal of medical genetics.

[124]  W. Rizzo,et al.  Involvement of microsomal fatty aldehyde dehydrogenase in the α‐oxidation of phytanic acid , 1998 .

[125]  V. Wiebe,et al.  Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. , 1998, American journal of human genetics.

[126]  P. Elias,et al.  Keratinocyte differentiation is stimulated by activators of the nuclear hormone receptor PPARalpha. , 1998, The Journal of investigative dermatology.

[127]  G. Ailhaud,et al.  Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes. , 1998, The Journal of investigative dermatology.

[128]  Keith A. Choatea,et al.  Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: case report. , 1998 .

[129]  R. Coleman,et al.  Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? , 1997, American journal of medical genetics.

[130]  K. Feingold,et al.  Epidermal steroid sulfatase and cholesterol sulfotransferase are regulated during late gestation in the fetal rat. , 1997, The Journal of investigative dermatology.

[131]  U. Rassner,et al.  Microwave incubation improves lipolytic enzyme preservation for ultrastr uctural cytochemistry , 1997, The Histochemical Journal.

[132]  A. Hutchinson,et al.  Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. , 1996, Human molecular genetics.

[133]  R. Coleman,et al.  Acylglycerol Recycling from Triacylglycerol to Phospholipid, Not Lipase Activity, Is Defective in Neutral Lipid Storage Disease Fibroblasts* , 1996, The Journal of Biological Chemistry.

[134]  Mushfiquddin Khan,et al.  Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. , 1996, Journal of lipid research.

[135]  A. Lavrijsen,et al.  Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. , 1995, The Journal of investigative dermatology.

[136]  P. Elias,et al.  Extracellular processing of phospholipids is required for permeability barrier homeostasis. , 1995, Journal of lipid research.

[137]  P. Elias,et al.  Glucosylceramides stimulate murine epidermal hyperproliferation. , 1995, The Journal of clinical investigation.

[138]  D. Ramsing,et al.  Skin barrier properties in patients with recessive X-linked ichthyosis. , 1995, Acta dermato-venereologica.

[139]  Z. Borochowitz,et al.  Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. , 1995, Fetal diagnosis and therapy.

[140]  S. Bale,et al.  Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis , 1995, Nature Genetics.

[141]  Z. Szallasi,et al.  Specific protein kinase C isozymes mediate the induction of keratinocyte differentiation markers by calcium. , 1995, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

[142]  M. Ponec,et al.  Mutations of keratinocyte transglutaminase in lamellar ichthyosis , 1995, Science.

[143]  M. Kagehara,et al.  Programmed expression of cholesterol sulfotransferase and transglutaminase during epidermal differentiation of murine skin development. , 1994, Biochimica et biophysica acta.

[144]  I. Anton‐Lamprecht.  Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. , 1994, The Journal of investigative dermatology.

[145]  T. Kuroki,et al.  Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C. , 1994, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

[146]  J. Harper,et al.  Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses , 1994, The British journal of dermatology.

[147]  E. Ginns,et al.  Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. , 1994, The Journal of clinical investigation.

[148]  M. Williams,et al.  X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse. , 1994, Archives of dermatology.

[149]  A. Lavrijsen,et al.  Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate , 1993, The British journal of dermatology.

[150]  W. Rizzo.  Sjögren-Larsson syndrome. , 1993, Seminars in dermatology.

[151]  P. Elias,et al.  From basket weave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification. , 1993, Archives of dermatology.

[152]  P. Elias,et al.  Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. , 1993, The Journal of clinical investigation.

[153]  K. Holbrook,et al.  Abnormal lamellar granules in harlequin ichthyosis. , 1992, The Journal of investigative dermatology.

[154]  M. Williams,et al.  Ichthyosis: Mechanisms of Disease , 1992, Pediatric dermatology.

[155]  P. Elias,et al.  Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. , 1992, The Journal of investigative dermatology.

[156]  W. Rizzo,et al.  Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. , 1992, Archives of dermatology.

[157]  Williams Ml.  Epidermal lipids and scaling diseases of the skin. , 1992 .

[158]  P. Elias,et al.  Sphingolipids are required for mammalian epidermal barrier function. Inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation. , 1991, The Journal of clinical investigation.

[159]  R. Coleman,et al.  Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. , 1991, Biochimica et biophysica acta.

[160]  S. White,et al.  Membrane structures in normal and essential fatty acid-deficient stratum corneum: characterization by ruthenium tetroxide staining and x-ray diffraction. , 1991, The Journal of investigative dermatology.

[161]  P. Elias,et al.  Cholesterol synthesis is required for cutaneous barrier function in mice. , 1990, The Journal of clinical investigation.

[162]  T. Barratt,et al.  Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea — a new syndrome , 1990, Pediatric Nephrology.

[163]  P. Yen,et al.  A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus. , 1990, Nucleic acids research.

[164]  L. Kanerva,et al.  Electron microscopy of the effects of dithranol on healthy and on psoriatic skin. , 1990, The American Journal of dermatopathology.

[165]  P. Yen,et al.  Molecular studies of deletions at the human steroid sulfatase locus. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[166]  B. Trask,et al.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. , 1989, American journal of human genetics.

[167]  M. Williams,et al.  CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts. , 1989, The Journal of clinical investigation.

[168]  A. Jetten,et al.  Action of phorbol esters, bryostatins, and retinoic acid on cholesterol sulfate synthesis: relation to the multistep process of differentiation in human epidermal keratinocytes. , 1989, The Journal of investigative dermatology.

[169]  L. Shapiro,et al.  Metabolism of3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency , 1988, Journal of Inherited Metabolic Disease.

[170]  F. Lawlor,et al.  Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. , 1988, Pediatrics.

[171]  P. Elias,et al.  Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis. , 1988, The Journal of investigative dermatology.

[172]  W. Hartschuh,et al.  Ichthyosis congenita type III , 1988, Archives of Dermatological Research.

[173]  M. Ponec,et al.  Density-dependent variations in the lipid content and metabolism of cultured human keratinocytes. , 1988, The Journal of investigative dermatology.

[174]  A. Jetten,et al.  Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro , 1987, Journal of cellular physiology.

[175]  Y W Kan,et al.  Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[176]  R. Lavker,et al.  The keratotic tumors of Cowden's disease: an electronmicroscopic study , 1987, Journal of cutaneous pathology.

[177]  P. Albro,et al.  Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid. , 1987, The Journal of biological chemistry.

[178]  M. Williams,et al.  Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts. , 1987, Journal of lipid research.

[179]  A. Ballabio,et al.  Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[180]  G. Hook,et al.  Retinoic acid and substratum regulate the differentiation of rabbit tracheal epithelial cells into squamous and secretory phenotype. Morphological and biochemical characterization. , 1987, Laboratory investigation; a journal of technical methods and pathology.

[181]  M. Ferguson-Smith,et al.  Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). , 1987, Nucleic acids research.

[182]  K. von Figura,et al.  Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase. , 1987, Biochemical and biophysical research communications.

[183]  Golder N Wilson,et al.  PEROXISOMAL ENZYME DEFICIENCY IN THE CONRADI-HUNERMAN FORM OF CHONDRODYSPLASIA PUNCTATA , 1987, Pediatric Research.

[184]  P. Wertz,et al.  Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets. , 1987, The Journal of investigative dermatology.

[185]  A. Jetten,et al.  Accumulation of cholesterol 3-sulfate during in vitro squamous differentiation of rabbit tracheal epithelial cells and its regulation by retinoids. , 1986, The Journal of biological chemistry.

[186]  R. Schmickel.  Contiguous gene syndromes: a component of recognizable syndromes. , 1986, The Journal of pediatrics.

[187]  P. Wertz,et al.  Lipid composition of cohesive and desquamated corneocytes from mouse ear skin. , 1986, The Journal of investigative dermatology.

[188]  R. Isseroff,et al.  Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization. , 1985, The Journal of investigative dermatology.

[189]  U. Houtsmuller,et al.  Metabolism of linoleic acid and other essential fatty acids in the epidermis of the rat. , 1985, Biochimica et biophysica acta.

[190]  J. J. O'Donnell,et al.  Ichthyosis and neutral lipid storage disease. , 1985, American journal of medical genetics.

[191]  P. Elias,et al.  Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. , 1985, Archives of dermatology.

[192]  P. Elias,et al.  Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. , 1984, The Journal of clinical investigation.

[193]  F. Brandrup,et al.  TOPICAL CHOLESTEROL TREATMENT OF RECESSIVE X-LINKED ICHTHYOSIS , 1984, The Lancet.

[194]  A. Lykkesfeldt,et al.  Placental Steroid Sulfatase Deficiency: Biochemical Diagnosis and Clinical Review , 1984, Obstetrics and gynecology.

[195]  P. Elias,et al.  The epidermal cholesterol sulfate cycle. , 1984, Journal of the American Academy of Dermatology.

[196]  N. Skakkebaek,et al.  STEROID SULPHATASE DEFICIENCY ASSOCIATED WITH TESTIS CANCER , 1983, The Lancet.

[197]  P. Elias,et al.  Diazacholesterol-induced ichthyosis in the hairless mouse. I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model. , 1983, Laboratory investigation; a journal of technical methods and pathology.

[198]  S. Zaynoun,et al.  Extensive pityriasis alba: A histological histochemical and ultrastructural study , 1983, The British journal of dermatology.

[199]  S. Lidén,et al.  Ichthyosis in the Sjögren‐Larsson syndrome , 1982, Clinical genetics.

[200]  P. Elias,et al.  Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. , 1981, The Journal of clinical investigation.

[201]  R. Krauss,et al.  X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. , 1981, Science.

[202]  P. Elias,et al.  The permeability barrier in essential fatty acid deficiency: evidence for a direct role for linoleic acid in barrier function. , 1980, The Journal of investigative dermatology.

[203]  R. Happle.  X-Linked dominant chondrodysplasia punctata , 1979, Human Genetics.

[204]  T. Mohandas,et al.  Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[205]  Elias Pm,et al.  The mammalian cutaneous permeability barrier: defective barrier function is essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. , 1978 .

[206]  Y. Rijken,et al.  X-linked icthyosis. A sulphatase deficiency. , 1978, Archives of disease in childhood.

[207]  R. Weiss,et al.  X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY , 1978, The Lancet.

[208]  O. Zuffardi,et al.  Nullisomy for the distal portion of Xp in a male child with a X/Y translocation , 1977, Human Genetics.

[209]  G. Weinstein,et al.  The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation. , 1966, The Journal of investigative dermatology.

[210]  B. Wedi,et al.  Pathophysiological Role of Leukotrienes in Dermatological Diseases , 2012, BioDrugs.

[211]  P. Elias,et al.  PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. , 2008, The Journal of investigative dermatology.

[212]  P. Elias,et al.  Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. , 2007, Advances in dermatology.

[213]  M. Lathrop,et al.  The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy , 2007, Nature Genetics.

[214]  W. Rizzo.  Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. , 2007, Molecular genetics and metabolism.

[215]  M. Brattsand,et al.  A proteolytic cascade of kallikreins in the stratum corneum. , 2005, The Journal of investigative dermatology.

[216]  R. Willemsen,et al.  Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor , 2005, The Histochemical Journal.

[217]  J. Strauss,et al.  Human stratum corneum polar lipids and desquamation , 2004, Archives of Dermatological Research.

[218]  H. Ropers,et al.  Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223 , 2004, Human Genetics.

[219]  P. Zeeuwen.  Epidermal differentiation: the role of proteases and their inhibitors. , 2004, European journal of cell biology.

[220]  M. Ponec,et al.  Cholesterol sulfate uptake and outflux in cultured human keratinocytes , 2004, Archives of Dermatological Research.

[221]  P. Elias,et al.  Interactions of cholesterol and cholesterol sulfate with free fatty acids: Possible relevance for the pathogenesis of recessive X-linked ichthyosis , 2004, Archives of Dermatological Research.

[222]  R. Happle.  Lyonization and the lines of Blaschko , 2004, Human Genetics.

[223]  P. Westermark,et al.  Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. , 2003, Acta dermato-venereologica.

[224]  H. Waterham,et al.  Identification of PEX7 as the second gene involved in Refsum disease. , 2003, Advances in experimental medicine and biology.

[225]  L. Puig,et al.  Hepoxilin B3 and its enzymatically formed derivative trioxilin B3 are incorporated into phospholipids in psoriatic lesions. , 2002, The Journal of investigative dermatology.

[226]  J. Auwerx,et al.  Topical Peroxisome Proliferator Activated Receptor-α Activators Reduce Inflammation in Irritant and Allergic Contact Dermatitis Models , 2002 .

[227]  J. Weissenbach,et al.  Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. , 2002, Human molecular genetics.

[228]  M. Brattsand,et al.  Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process? , 2000, The Journal of investigative dermatology.

[229]  S. Wong,et al.  GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6. , 1999, Molecular biology of the cell.

[230]  S. Ferdinandusse,et al.  Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. , 1999, Advances in experimental medicine and biology.

[231]  R. Coleman,et al.  Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. , 1998, Journal of lipid research.

[232]  T. Tallab,et al.  Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases. , 1997, Ultrastructural pathology.

[233]  E. Ginns,et al.  Epidermal Abnormalities May Distinguish Type 2 from Type 1 and Type 3 of Gaucher Disease , 1996, Pediatric Research.

[234]  M. Williams,et al.  Lipids in normal and pathological desquamation. , 1991, Advances in lipid research.

[235]  K. Feingold.  The regulation and role of epidermal lipid synthesis. , 1991, Advances in lipid research.

[236]  P. Elias,et al.  Structural and lipid biochemical correlates of the epidermal permeability barrier. , 1991, Advances in lipid research.

[237]  K. Holbrook,et al.  Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. , 1990, The Journal of investigative dermatology.

[238]  L. Dibbelt,et al.  Human placental sterylsulfatase: immunocytochemical and biochemical localization. , 1989, Biological chemistry Hoppe-Seyler.

[239]  V. Ziboh,et al.  Metabolism and function of skin lipids. , 1988, Progress in lipid research.

[240]  P. Elias,et al.  Genetically transmitted, generalized disorders of cornification. The ichthyoses. , 1987, Dermatologic clinics.

[241]  K. Bradshaw,et al.  Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. , 1986, Obstetrical & gynecological survey.

[242]  P. Elias,et al.  Applications of the Diazacholesterol Animal Model of Ichthyosis , 1986 .

[243]  P. Elias,et al.  Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. , 1985, Archives of dermatology.

[244]  L. Shapiro,et al.  Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. , 1985, Advances in human genetics.

[245]  H. Baden,et al.  Steroid-sulfatase deficiency in sex-linked ichthyosis. , 1979, American journal of human genetics.

[246]  C. Blanchet‐Bardon,et al.  Ultrastructural Features of Ichthyotic Skin in Refsum’s Syndrome , 1978 .

[247]  A. Bangham.  Lipid bilayers and biomembranes. , 1972, Annual review of biochemistry.