Inherited disorders of corneocyte proteins.

[1]  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.

[2]  P. Terheyden,et al.  Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. , 2009, The Journal of investigative dermatology.

[3]  T. Wolfsberg,et al.  Matriptase-deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota. , 2009, The Journal of investigative dermatology.

[4]  J. Sundberg,et al.  Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. , 2009, The Journal of allergy and clinical immunology.

[5]  H. Hennies,et al.  Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. , 2009, The Journal of investigative dermatology.

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

[7]  P. Dubus,et al.  Kallikrein 5 induces atopic dermatitis–like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome , 2009, The Journal of experimental medicine.

[8]  J. Gerss,et al.  Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup , 2009, The British journal of dermatology.

[9]  A. Shiohama,et al.  A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming , 2009, Nature Genetics.

[10]  R. Presland,et al.  Function of Filaggrin and Caspase-14 in Formation and Maintenance of the Epithelial Barrier , 2009 .

[11]  P. Elias,et al.  Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms. , 2008, The Journal of allergy and clinical immunology.

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

[13]  Colin N A Palmer,et al.  Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema , 2007, Nature Genetics.

[14]  M. Akiyama,et al.  Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. , 2007, The Journal of allergy and clinical immunology.

[15]  M. Akiyama,et al.  The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. , 2007, Journal of Investigative Dermatology.

[16]  C. Fauth,et al.  Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris , 2007, European Journal of Human Genetics.

[17]  D. Goudie,et al.  Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. , 2006, The Journal of investigative dermatology.

[18]  V. Oji,et al.  Ichthyoses: differential diagnosis and molecular genetics. , 2006, European journal of dermatology : EJD.

[19]  Marcel Huber,et al.  A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. , 2006, Human molecular genetics.

[20]  Colin N A Palmer,et al.  Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis , 2006, Nature Genetics.

[21]  S. Bale,et al.  Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris , 2006, Nature Genetics.

[22]  V. Rogiers,et al.  Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity. , 2005, The Journal of investigative dermatology.

[23]  P. Elias,et al.  Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity , 2005, Archives of Dermatological Research.

[24]  M. Simon,et al.  Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin. , 2005, The Journal of investigative dermatology.

[25]  K. Kikuchi,et al.  Large‐scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope , 2005, The British journal of dermatology.

[26]  M. Omary,et al.  Intermediate filament proteins and their associated diseases. , 2004, The New England journal of medicine.

[27]  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.

[28]  A. Christiano,et al.  Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). , 2004, The Journal of investigative dermatology.

[29]  A. Rawlings,et al.  Moisturization and skin barrier function , 2004, Dermatologic therapy.

[30]  D. Hohl,et al.  Cross‐linked envelopes in nail plate in lamellar ichthyosis , 2003, The British journal of dermatology.

[31]  Xiangyin Kong,et al.  Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22 , 2003, Journal of Human Genetics.

[32]  M. Denda,et al.  Changes in environmental humidity affect the water-holding property of the stratum corneum and its free amino acid content, and the expression of filaggrin in the epidermis of hairless mice. , 2003, Journal of dermatological science.

[33]  A. Ishida-Yamamoto,et al.  Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. , 2003, Journal of dermatological science.

[34]  M. Raghunath,et al.  Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. , 2003, The Journal of investigative dermatology.

[35]  S. Bale,et al.  Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1 * , 2002, Experimental dermatology.

[36]  R. Presland,et al.  Functional analysis of the profilaggrin N-terminal peptide: identification of domains that regulate nuclear and cytoplasmic distribution. , 2002, The Journal of investigative dermatology.

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

[38]  P. Fleckman,et al.  Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris , 2002, Experimental dermatology.

[39]  J. Reichelt,et al.  Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice. , 2002, Journal of cell science.

[40]  K. Sandhoff,et al.  Deficiency of Epidermal Protein-Bound ω-Hydroxyceramides in Atopic Dermatitis , 2002 .

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

[42]  J. McGrath,et al.  A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome , 2002, Clinical and experimental dermatology.

[43]  T. Takizawa,et al.  Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. , 2002, The Journal of clinical investigation.

[44]  P. Elias,et al.  Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. , 2001, The Journal of investigative dermatology.

[45]  T. Saida,et al.  Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby , 2001, The British journal of dermatology.

[46]  I. Leigh,et al.  Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. , 2001, Acta dermato-venereologica.

[47]  J. Reichelt,et al.  Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice. , 2001, Molecular biology of the cell.

[48]  G. Richard,et al.  Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. , 2001, The Journal of investigative dermatology.

[49]  M. Akiyama,et al.  Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma , 2001, The British journal of dermatology.

[50]  J. Sundberg,et al.  Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. , 2000, The Journal of investigative dermatology.

[51]  A. Steven,et al.  Lessons from Loricrin-Deficient Mice , 2000, The Journal of cell biology.

[52]  P. Steinert.  The Complexity and Redundancy of Epithelial Barrier Function , 2000, The Journal of cell biology.

[53]  M. Kermici,et al.  Evidence for the existence of a self-regulated enzymatic process within the human stratum corneum -an unexpected role for urocanic acid. , 2000, The Journal of investigative dermatology.

[54]  P. V. D. van de Kerkhof,et al.  Changes in Keratin 6 and Keratin 10 (Co-)Expression in Lesional and Symptomless Skin of Spreading Psoriasis , 2000, Dermatology.

[55]  P. Steinert,et al.  Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia. , 1999, Molecular biology of the cell.

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

[57]  E. Maestrini,et al.  A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. , 1999, Human molecular genetics.

[58]  J. C. Díaz-Zagoya,et al.  Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico. , 1999, International Journal of Dermatology.

[59]  M. Kuechle,et al.  Profilaggrin requires both linker and filaggrin peptide sequences to form granules: implications for profilaggrin processing in vivo. , 1999, The Journal of investigative dermatology.

[60]  D. Hohl,et al.  An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis , 1999, Experimental dermatology.

[61]  P. Steinert,et al.  Bricks and mortar of the epidermal barrier , 1999, Experimental & Molecular Medicine.

[62]  K. Stephens,et al.  Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. , 1999, American journal of human genetics.

[63]  D. Roop,et al.  A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. , 1998, The Journal of investigative dermatology.

[64]  K. Mckenna,et al.  A novel insertional mutation in loricrin in Vohwinkel's Keratoderma. , 1998, The Journal of investigative dermatology.

[65]  E. Lane,et al.  The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE. , 1998, The Journal of investigative dermatology.

[66]  P. Fleckman,et al.  Reduced Stability and Bi-Allelic, Coequal Expression of Profilaggrin mRNA in Keratinocytes Cultured From Subjects With Ichthyosis Vulgaris , 1998 .

[67]  E. Fuchs,et al.  A structural scaffolding of intermediate filaments in health and disease. , 1998, Science.

[68]  H. Green,et al.  Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[69]  J. Patterson,et al.  Skin cancer associated with ichthyosis: the MAUIE syndrome. , 1997, Journal of American Academy of Dermatology.

[70]  H. Iizuka,et al.  Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. , 1997, The Journal of investigative dermatology.

[71]  J. Reichelt,et al.  Out of balance: consequences of a partial keratin 10 knockout. , 1997, Journal of cell science.

[72]  J. Kere,et al.  Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. , 1997, American journal of human genetics.

[73]  D. Hohl,et al.  A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. , 1997, The Journal of investigative dermatology.

[74]  D. Roop,et al.  A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. , 1996, Differentiation; research in biological diversity.

[75]  P. Khavari,et al.  Corrective gene transfer in the human skin disorder lamellar ichthyosis , 1996, Nature Medicine.

[76]  P. Steinert,et al.  A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. , 1996, The Journal of investigative dermatology.

[77]  T. Tezuka,et al.  Decreased expression of filaggrin in atopic skin , 1996, Archives of Dermatological Research.

[78]  Anthony P. Monaco,et al.  A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome , 1996, Nature Genetics.

[79]  T. Tezuka,et al.  Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis. , 1996, Archives of biochemistry and biophysics.

[80]  D. Elbaum,et al.  Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. , 1995, Journal of the American Academy of Dermatology.

[81]  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.

[82]  P. Steinert,et al.  The Proteins Elafin, Filaggrin, Keratin Intermediate Filaments, Loricrin, and Small Proline-rich Proteins 1 and 2 Are Isodipeptide Cross-linked Components of the Human Epidermal Cornified Cell Envelope (*) , 1995, The Journal of Biological Chemistry.

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

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

[85]  J. Kvedar,et al.  Binding of keratin intermediate filaments (K10) to the cornified envelope in mouse epidermis: implications for barrier function. , 1994, The Journal of investigative dermatology.

[86]  A V Rawlings,et al.  Stratum corneum moisturization at the molecular level. , 1994, The Journal of investigative dermatology.

[87]  A. Vahlquist,et al.  In vivo studies concerning a pH gradient in human stratum corneum and upper epidermis. , 1994, Acta dermato-venereologica.

[88]  S. Bale,et al.  Clinical heterogeneity in epidermolytic hyperkeratosis. , 1994, Archives of dermatology.

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

[90]  P. Elias,et al.  Selective obliteration of the epidermal calcium gradient leads to enhanced lamellar body secretion. , 1994, The Journal of investigative dermatology.

[91]  E. Fuchs,et al.  Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. , 1994, The Journal of clinical investigation.

[92]  S. Bale,et al.  Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. , 1994, American journal of human genetics.

[93]  D. Hohl,et al.  A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. , 1993, Human molecular genetics.

[94]  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.

[95]  R. Goldman,et al.  Dynamics of keratin assembly: exogenous type I keratin rapidly associates with type II keratin in vivo , 1993, The Journal of cell biology.

[96]  D. Hohl,et al.  Analysis of the cornified cell envelope in lamellar ichthyosis. , 1993, Archives of dermatology.

[97]  P. Fritsch,et al.  Retinoids in psoriasis and disorders of keratinization. , 1992, Journal of the American Academy of Dermatology.

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

[99]  S. Bale,et al.  A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis , 1992, Cell.

[100]  Elaine Fuchs,et al.  The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes , 1992, Cell.

[101]  D Hohl,et al.  Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis , 1992, Science.

[102]  E. Fuchs,et al.  Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[103]  E. Lane,et al.  Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). , 1992, The Journal of investigative dermatology.

[104]  E. Frenk,et al.  Self‐Healing Collodion Baby: Evidence for Autosomal Recessive Inheritance , 1992, Pediatric dermatology.

[105]  R. Rice,et al.  Transglutaminases: multifunctional cross‐linking enzymes that stabilize tissues , 1991, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[106]  D. Hohl,et al.  Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. , 1991, The Journal of biological chemistry.

[107]  O. Mcbride,et al.  Organization, structure, and polymorphisms of the human profilaggrin gene. , 1990, Biochemistry.

[108]  A. Steven,et al.  Biosynthetic pathways of filaggrin and loricrin--two major proteins expressed by terminally differentiated epidermal keratinocytes. , 1990, Journal of structural biology.

[109]  A. Steven,et al.  Identification of a major keratinocyte cell envelope protein, loricrin , 1990, Cell.

[110]  R. Caputo,et al.  Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form , 1990, The British journal of dermatology.

[111]  Y. Matsuzawa,et al.  X‐linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysis , 1988, The British journal of dermatology.

[112]  D. Aunis,et al.  The cytoskeleton as a barrier to exocytosis in secretory cells. , 1988, The Journal of experimental biology.

[113]  K. Holbrook,et al.  Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. , 1987, The Journal of investigative dermatology.

[114]  C. Harding,et al.  Filaggrin breakdown to water binding compounds during development of the rat stratum corneum is controlled by the water activity of the environment. , 1986, Developmental biology.

[115]  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.

[116]  K. Holbrook,et al.  Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. , 1985, The Journal of investigative dermatology.

[117]  C. Camisa,et al.  Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. , 1984, Archives of dermatology.

[118]  M. Williams,et al.  The Ichthyoses—Pathogenesis and Prenatal Diagnosis: A Review of Recent Advances , 1983, Pediatric dermatology.

[119]  I. Anton‐Lamprecht.  Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. , 1983, The Journal of investigative dermatology.

[120]  J. Barrett,et al.  Histidine-rich protein of the keratohyalin granules. Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum. , 1982, Biochimica et biophysica acta.

[121]  K. Holbrook,et al.  Abnormal Epidermal Keratinization in the repeated epilation mutant mouse , 1982, Journal of Cell Biology.

[122]  L. Goldsmith,et al.  Keratohyalin protein in disorders of keratinization. , 1974, The Journal of investigative dermatology.

[123]  J. Caulfield,et al.  An electron microscopic study of epidermolytic hyperkeratosis. With a special note on the keratinosome as the "fourth" structural factor in the formation of the horny layer. , 1966, Archives of dermatology.

[124]  P. Vandenabeele,et al.  Acute modulations in permeability barrier function regulate epidermal cornification: role of caspase-14 and the protease-activated receptor type 2. , 2008, The American journal of pathology.

[125]  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.

[126]  I. Anton‐Lamprecht,et al.  Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis , 2004, Humangenetik.

[127]  M. Medenica,et al.  Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature. , 2003, Acta dermato-venereologica.

[128]  H. Takahashi,et al.  Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome. , 1999, Journal of dermatological science.

[129]  K. McGowan,et al.  The wound repair-associated keratins 6, 16, and 17. Insights into the role of intermediate filaments in specifying keratinocyte cytoarchitecture. , 1998, Sub-cellular biochemistry.

[130]  E. Lane,et al.  Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). , 1994, The Journal of investigative dermatology.

[131]  R. Grimalt,et al.  A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'. , 1994, Dermatology.

[132]  D. Hohl,et al.  Cornified cell envelope. , 1990, Dermatologica.

[133]  C. Camisa,et al.  Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. , 1988, Dermatologica.

[134]  M. Camenzind,et al.  Ichtyose en confettis. , 1984 .