| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Matthias Schmuth | Q43155172 |
| P2093 | author name string | Peter M Elias | |
| Robert Gruber | |||
| Mary L Williams | |||
| P2860 | cites work | LEKTI, a novel 15-domain type of human serine proteinase inhibitor | Q22010419 |
| Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation | Q24291049 | ||
| LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum | Q24292945 | ||
| A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis | Q24293187 | ||
| Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins | Q24295222 | ||
| Kallikrein-mediated proteolysis regulates the antimicrobial effects of cathelicidins in skin | Q24305367 | ||
| Desquamation in the stratum corneum | Q73965446 | ||
| Morphologic basis for a pore-pathway in mammalian stratum corneum | Q74115365 | ||
| Expression of corneodesmosin in the granular layer and stratum corneum of normal and diseased epidermis | Q74202350 | ||
| Changes in keratin 6 and keratin 10 (co-)expression in lesional and symptomless skin of spreading psoriasis | Q74259780 | ||
| Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris | Q74641815 | ||
| A novel insertional mutation in loricrin in Vohwinkel's Keratoderma | Q77386481 | ||
| An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis | Q77414729 | ||
| A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma | Q77695997 | ||
| Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome | Q77799219 | ||
| Profilaggrin requires both linker and filaggrin peptide sequences to form granules: implications for profilaggrin processing in vivo | Q77927971 | ||
| Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications | Q78015171 | ||
| Higher prevalence of X-linked ichthyosis vs. ichthyosis vulgaris in Mexico | Q78106557 | ||
| Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1 | Q78631426 | ||
| Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis | Q78817191 | ||
| Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy | Q93519245 | ||
| Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis | Q93729609 | ||
| The cytoskeleton as a barrier to exocytosis in secretory cells | Q39552453 | ||
| Genetically transmitted, generalized disorders of cornification. The ichthyoses | Q39760985 | ||
| Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis | Q40151473 | ||
| Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes | Q40919767 | ||
| The permeability barrier in mammalian epidermis | Q41314701 | ||
| Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis | Q41668666 | ||
| Ichthyosis linearis circumflexa Comèl and Netherton’s Syndrome; an Ultrastructural Study | Q41735093 | ||
| Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal | Q41906834 | ||
| Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). | Q42460631 | ||
| The secretory granular cell: the outermost granular cell as a specialized secretory cell | Q42461045 | ||
| Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice | Q42522700 | ||
| Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses | Q43543574 | ||
| Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression | Q43738830 | ||
| X-linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysis | Q43792239 | ||
| Squamous cell carcinoma in a patient with Netherton's syndrome | Q43852409 | ||
| Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure | Q43937120 | ||
| Comèl-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16. | Q44444121 | ||
| Basis for the permeability barrier abnormality in lamellar ichthyosis. | Q45996294 | ||
| Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity. | Q46035499 | ||
| In human epidermis, beta-defensin 2 is packaged in lamellar bodies | Q46140214 | ||
| Keratinocytes store the antimicrobial peptide cathelicidin in lamellar bodies. | Q46187560 | ||
| Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis | Q46217784 | ||
| The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. | Q46248144 | ||
| Inhibition of human kallikreins 5 and 7 by the serine protease inhibitor lympho-epithelial Kazal-type inhibitor (LEKTI). | Q46819732 | ||
| hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6. | Q46819911 | ||
| Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer | Q24307584 | ||
| Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes | Q24312751 | ||
| A potential role for multiple tissue kallikrein serine proteases in epidermal desquamation | Q24324426 | ||
| Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity | Q24539094 | ||
| Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity | Q24606047 | ||
| Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism | Q24616344 | ||
| Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis | Q24631016 | ||
| Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis | Q24673167 | ||
| Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome | Q28145552 | ||
| A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering | Q28186252 | ||
| Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families | Q28200896 | ||
| A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome | Q28205311 | ||
| The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis | Q28213469 | ||
| Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI | Q28215210 | ||
| Gene polymorphism in Netherton and common atopic disease | Q28215592 | ||
| Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome | Q28235669 | ||
| Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis | Q28250907 | ||
| Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7 | Q28261469 | ||
| SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases | Q28276436 | ||
| Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities | Q28281844 | ||
| A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome | Q28282771 | ||
| Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis | Q28287606 | ||
| Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity | Q28300081 | ||
| Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis | Q28302643 | ||
| Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis | Q28303063 | ||
| Mutations of keratinocyte transglutaminase in lamellar ichthyosis | Q28305640 | ||
| Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome | Q28306299 | ||
| Functional analysis of the profilaggrin N-terminal peptide: identification of domains that regulate nuclear and cytoplasmic distribution | Q28572970 | ||
| Identification of a major keratinocyte cell envelope protein, loricrin | Q28592928 | ||
| Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis | Q30990411 | ||
| Preservation of permeability barrier ontogenesis in the intrauterine growth-retarded fetal rat. | Q46939308 | ||
| The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE. | Q47993814 | ||
| Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris | Q47993940 | ||
| Ichthyosis linearis circumflexa Comèl with Trichorrhexis invaginata (Netherton's Syndrom): an ultrastructural study of the skin changes. | Q48020896 | ||
| Out of balance: consequences of a partial keratin 10 knockout. | Q52192441 | ||
| [Development of cancer (vulvar cancer) in the Netherton syndrome (ichthyosis, hair anomalies, atopic diathesis)] | Q53526904 | ||
| [Netherton syndrome: weakened immunity, generalized verrucosis and carcinogenesis] | Q53575931 | ||
| Histidine-rich protein of the keratohyalin granules. Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum. | Q53931495 | ||
| Filaggrin breakdown to water binding compounds during development of the rat stratum corneum is controlled by the water activity of the environment. | Q55060784 | ||
| Stratum corneum moisturization at the molecular level. | Q55065720 | ||
| Ichthyosis. | Q55161791 | ||
| Autosomal Dominant Keratoderma, Ichthyosiform Dermatosis and Elevated Serum Beta-Glucuronidase | Q55982475 | ||
| Keratoma hereditarium mutilans | Q56485177 | ||
| Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema | Q57061506 | ||
| Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris | Q57636998 | ||
| Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation | Q57990852 | ||
| Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis | Q58859862 | ||
| An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1 | Q58859940 | ||
| Genetic and Clinical Mosaicism in a Type of Epidermal Nevus | Q61041045 | ||
| The wound repair-associated keratins 6, 16, and 17. Insights into the role of intermediate filaments in specifying keratinocyte cytoarchitecture | Q64038850 | ||
| Netherton's syndrome: an electronmicroscopic study | Q67430452 | ||
| Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) | Q67537673 | ||
| Mammalian epidermal barrier layer lipids: composition and influence on structure | Q67715565 | ||
| Organization, structure, and polymorphisms of the human profilaggrin gene | Q68616823 | ||
| Ichthyosis linearis circumflexa comèl. A clinico-statistical approach to its relationship with Netherton's syndrome | Q68943356 | ||
| Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules | Q69381252 | ||
| Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling | Q69505628 | ||
| Avian epidermal differentiation: role of lipids in permeability barrier formation | Q70038105 | ||
| Biosynthetic pathways of filaggrin and loricrin--two major proteins expressed by terminally differentiated epidermal keratinocytes | Q70271991 | ||
| Symptomatology of Comel's linear circumflex ichthyosis (a case associated with genito-anal papillomatosis) | Q70713912 | ||
| Altered distribution of keratinization markers in epidermolytic hyperkeratosis | Q70881436 | ||
| The epidermal cholesterol sulfate cycle | Q70941385 | ||
| Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis | Q71053835 | ||
| A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis | Q71943964 | ||
| Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion | Q72027270 | ||
| From basket weave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification | Q72078372 | ||
| Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses | Q72089326 | ||
| 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 | Q72780328 | ||
| The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation | Q72899104 | ||
| 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 | Q73074841 | ||
| A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma | Q73082006 | ||
| Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene | Q73270497 | ||
| Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris | Q73307513 | ||
| Barrier function in K-10 heterozygote knockout mice | Q73560385 | ||
| Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22 | Q73601400 | ||
| Early development of multiple epithelial neoplasms in Netherton syndrome | Q73812956 | ||
| Human papillomavirus infection in Netherton's syndrome | Q73895182 | ||
| Bricks and mortar of the epidermal barrier | Q33609653 | ||
| Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation | Q33650116 | ||
| A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families | Q33864995 | ||
| Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. | Q34020414 | ||
| Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis | Q34250148 | ||
| The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. | Q34250258 | ||
| Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin | Q34251199 | ||
| Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). | Q34290979 | ||
| Clinical heterogeneity in epidermolytic hyperkeratosis | Q34331801 | ||
| Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin. | Q34388910 | ||
| Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1 | Q34389082 | ||
| A structural scaffolding of intermediate filaments in health and disease | Q34453208 | ||
| Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. | Q34489270 | ||
| Moisturization and skin barrier function | Q34544618 | ||
| Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure | Q34549121 | ||
| Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase | Q34563705 | ||
| Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses | Q34591440 | ||
| Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis | Q34617644 | ||
| Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1 | Q34786940 | ||
| The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. | Q35160783 | ||
| A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation | Q35548323 | ||
| Enlightened therapy of the disorders of cornification | Q35565674 | ||
| Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis | Q35742561 | ||
| Intermediate filament proteins and their associated diseases | Q35945556 | ||
| Stratum corneum defensive functions: an integrated view | Q36228049 | ||
| Dynamics of keratin assembly: exogenous type I keratin rapidly associates with type II keratin in vivo | Q36232608 | ||
| The complexity and redundancy of epithelial barrier function | Q36366937 | ||
| Binding of keratin intermediate filaments (K10) to the cornified envelope in mouse epidermis: implications for barrier function | Q36676932 | ||
| Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate | Q36756936 | ||
| Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia | Q36955283 | ||
| Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis | Q37006001 | ||
| Involucrin cross-linking by transglutaminase 1. Binding to membranes directs residue specificity | Q38326216 | ||
| A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis | Q38530717 | ||
| Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice. | Q38761802 | ||
| P921 | main subject | pathogenesis | Q372016 |
| P304 | page(s) | 231-256 | |
| P577 | publication date | 2007-01-01 | |
| P1433 | published in | Advances in dermatology | Q26839851 |
| P1476 | title | Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders | |
| P478 | volume | 23 |
| Q92246790 | 3D-Organotypic Cultures to Unravel Molecular and Cellular Abnormalities in Atopic Dermatitis and Ichthyosis Vulgaris |
| Q34768374 | A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis |
| Q24602843 | A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis |
| Q58559257 | ABHD5 Stimulates PNPLA1-mediated Omega-O-Acylceramide Biosynthesis Essential for a Functional Skin Permeability Barrier |
| Q36713839 | Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders |
| Q35539200 | Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses |
| Q38093338 | Cytokines and the skin barrier. |
| Q28534289 | Distinguishing ichthyoses by protein profiling |
| Q53107534 | Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. |
| Q38619156 | Epidermal barrier in hereditary ichthyoses, atopic dermatitis, and psoriasis. |
| Q28748361 | Evidence that stress to the epidermal barrier influenced the development of pigmentation in humans |
| Q30494794 | Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens |
| Q34838614 | Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function |
| Q28943323 | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| Q55012365 | High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt. |
| Q44443107 | Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length |
| Q48055869 | Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment |
| Q36543023 | Inherited ichthyoses/generalized Mendelian disorders of cornification |
| Q38152889 | Lipid abnormalities and lipid-based repair strategies in atopic dermatitis |
| Q57048742 | Locally-curved geometry generates bending cracks in the African elephant skin |
| Q45733925 | Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. |
| Q42041706 | Overcoming the Barrier Treatment of Ichthyosis: A Combination-therapy Approach |
| Q42214835 | PPAR Medicines and Human Disease: The ABCs of It All. |
| Q24616344 | Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism |
| Q42761501 | Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders |
| Q35350057 | Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism |
| Q33632061 | Proteomic analysis of human keratinocyte response to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) exposure |
| Q46305484 | Proteomic profiling of Pachyonychia congenita plantar callus |
| Q50989498 | Refractory Trichophyton rubrum infection in lamellar ichthyosis. |
| Q34979048 | Self-consistent field theory for the interactions between keratin intermediate filaments. |
| Q36363115 | Tgm1-like transglutaminases in tilapia (Oreochromis mossambicus) |
| Q45235554 | The Cohesin Complex Is Necessary for Epidermal Progenitor Cell Function through Maintenance of Self-Renewal Genes. |
| Q46448299 | The Th2 cytokine, interleukin-4, abrogates the cohesion of normal stratum corneum in mice: implications for pathogenesis of atopic dermatitis |
| Q43454156 | The expression of proinflammatory genes in epidermal keratinocytes is regulated by hydration status |
| Q36494773 | Topical antihistamines display potent anti-inflammatory activity linked in part to enhanced permeability barrier function |
| Q34216737 | Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization |
| Q48658169 | [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification]. |
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