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Cutaneous gene transfer and therapy: the present and the future
JOURNAL OF GENE MEDICINE
Crystallization and preliminary X-ray analysis of human transglutaminase 3from zymogen to active form
JOURNAL OF STRUCTURAL BIOLOGY
Sustainable systemic delivery via a single injection of lentivirus into human skin tissue
HUMAN GENE THERAPY
Gene therapy for inherited skin diseases
CURRENT PROBLEMS IN DERMATOLOGY-US
Identification of immature cornified envelopes in the barrier-impaired epidermis by characterization of their hydrophobicity and antigenicities of the components
EXPERIMENTAL DERMATOLOGY
Keratinocyte growth factor induces hyperproliferation and delays differentiation in a skin equivalent model system
FASEB JOURNAL
Gene mutations, great expectations
CLINICS IN DERMATOLOGY
Gene disruption of tissue transglutaminase
MOLECULAR AND CELLULAR BIOLOGY
De novo deletion of chromosome 18q in a baby with harlequin ichthyosis
AMERICAN JOURNAL OF MEDICAL GENETICS
In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Psoriasis in a patient with congenital lamellar ichthyosis
HAUTARZT
Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
BRITISH JOURNAL OF DERMATOLOGY
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
BRITISH JOURNAL OF DERMATOLOGY
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity
AMERICAN JOURNAL OF HUMAN GENETICS
Immunoelectron microscopy links molecules and morphology in the studies ofkeratinization
EUROPEAN JOURNAL OF DERMATOLOGY
Genetic correction of inherited epidermal disorders
HUMAN GENE THERAPY
Ichthyosis: Where we have been disorders of cornification: Where we are going
CURRENT PROBLEMS IN DERMATOLOGY-US
Strategies for cutaneous gene therapy
CURRENT PROBLEMS IN DERMATOLOGY-US
Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis
JOURNAL OF DERMATOLOGICAL SCIENCE
Characterization of human recombinant transglutaminase 1 purified from baculovirus-infected insect cells
BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY
Cutaneous gene therapy: overview and perspectives
M S-MEDECINE SCIENCES
Psoriasis, lichen planus, and disorders of keratinization: Unapproved treatments or indications
CLINICS IN DERMATOLOGY
Functional AP1 and CRE response elements in the human keratinocyte transglutaminase promoter mediating Whn suppression
GENE
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
HUMAN GENETICS
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome
CLINICAL AND EXPERIMENTAL DERMATOLOGY
Haplotype association and mutation analysis of the transglutaminase 1 genefor prenatal exclusion of lamellar ichthyosis
PRENATAL DIAGNOSIS
Lamellar ichthyosis: Response to etretinate with transglutaminase 1 recovery
AMERICAN JOURNAL OF DERMATOPATHOLOGY
Assays for transglutaminases in cell death
APOPTOSIS
Dermatologic clues to inherited disease
PEDIATRIC CLINICS OF NORTH AMERICA
Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient mice
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Role of Sp1 response element in transcription of the human transglutaminase 1 gene
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Efficient in vitro transfection of human keratinocytes with an adenovirus-enhanced receptor-mediated system
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Transient expression of transglutaminase C during prenatal development of human muscles
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
Targeted ablation of the murine involucrin gene
JOURNAL OF CELL BIOLOGY
Lessons from loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein
JOURNAL OF CELL BIOLOGY
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
JOURNAL OF BIOLOGICAL CHEMISTRY
Nuclear factor kappa B subunits induce epithelial cell growth arrest
CANCER RESEARCH
Expression of transglutaminase activity in developing human epidermis
BRITISH JOURNAL OF DERMATOLOGY
Facilitated wound healing by activation of the Transglutaminase 1 gene
AMERICAN JOURNAL OF PATHOLOGY
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
AMERICAN JOURNAL OF HUMAN GENETICS
Assignment of a novel locus for autosomal recessive congenital ichthyosis chromosome 19p13.1-p13.2
AMERICAN JOURNAL OF HUMAN GENETICS
Altered expression of immunoreactive involucrin in lamellar ichthyosis
EUROPEAN JOURNAL OF DERMATOLOGY
Transduction of a preselected population of human epidermal stem cells: Consequences for gene therapy
PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis
EUROPEAN JOURNAL OF HUMAN GENETICS
Lamellar ichthyosis: Further narrowing, physical and expression mapping ofthe chromosome 2 candidate locus
EUROPEAN JOURNAL OF HUMAN GENETICS
Efficient gene transfer into human keratinocytes with recombinant adeno-associated virus vectors
GENE THERAPY
BP180 gene delivery in junctional epidermolysis bullosa
GENE THERAPY
The pathogenesis of severe congenital ichthyosis of the neonate
JOURNAL OF DERMATOLOGICAL SCIENCE
Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis
EXPERIMENTAL DERMATOLOGY
Transcription regulatory elements of the first intron control human transglutaminase type I gene expression in epidermal keratinocytes
JOURNAL OF CELLULAR BIOCHEMISTRY
Granular parakeratosis - a unique acquired disorder of keratinization
JOURNAL OF CUTANEOUS PATHOLOGY
Ischio-spinal dysostosis: a previously unrecognised combination of malformations
PEDIATRIC RADIOLOGY
Transglutaminase activity in the eye: Cross-linking in epithelia and connective tissue structures
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
A novel function for transglutaminase 1: Attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Periderm cells form cornified cell envelope in their regression process during human epidermal development
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Involucrin cross-linking by transglutaminase 1 - Binding to membranes directs residue specificity
JOURNAL OF BIOLOGICAL CHEMISTRY
Characterization of recombinant mouse epidermal-type transglutaminase (TGase 3): Regulation of its activity by proteolysis and guanine nucleotides
JOURNAL OF BIOCHEMISTRY
Pityriasis rubra pilaris
INTERNATIONAL JOURNAL OF DERMATOLOGY
Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
CLINICAL GENETICS
Improved topical treatment of lamellar ichthyosis: a double-blind study offour different cream formulations
BRITISH JOURNAL OF DERMATOLOGY
SMALL PROLINE-RICH PROTEINS ARE CROSS-BRIDGING PROTEINS IN THE CORNIFIED CELL ENVELOPES OF STRATIFIED SQUAMOUS EPITHELIA
Journal of structural biology (Print)
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
EUROPEAN JOURNAL OF HUMAN GENETICS
PATTERNED ACQUISITION OF SKIN BARRIER FUNCTION DURING DEVELOPMENT
Development
Inherited disorders of epidermal keratinization
JOURNAL OF DERMATOLOGICAL SCIENCE
PREIMPLANTATION GENETIC DIAGNOSIS OF SEVERE INHERITED SKIN DISEASES
Experimental dermatology
STRUCTURAL ORGANIZATION OF CORNIFIED CELL ENVELOPES AND ALTERATIONS IN INHERITED SKIN DISORDERS
Experimental dermatology
THE MAJOR INHERITED DISORDERS OF CORNIFICATION - NEW ADVANCES IN PATHOGENESIS
Dermatologic clinics
THE USE OF RETINOIDS IN THE PEDIATRIC-PATIENT
Dermatologic clinics
A NOVEL IN-SITU METHOD FOR THE DETECTION OF DEFICIENT TRANSGLUTAMINASE ACTIVITY IN THE SKIN
Archives of dermatological research (Print)
REGIONAL DIFFERENCE IN EXPRESSION OF CHARACTERISTIC ABNORMALITY OF HARLEQUIN ICHTHYOSIS IN AFFECTED FETUSES
Prenatal diagnosis
TRANSGLUTAMINASE-1 EXPRESSION IN A PATIENT WITH FEATURES OF HARLEQUINICHTHYOSIS - CASE-REPORT
Journal of the American Academy of Dermatology
Cultivation of human keratinocyte stem cells: current and future clinical applications
MEDICAL & BIOLOGICAL ENGINEERING & COMPUTING
DEFECTIVE STRATUM-CORNEUM AND EARLY NEONATAL DEATH IN MICE LACKING THE GENE FOR TRANSGLUTAMINASE-1 (KERATINOCYTE TRANSGLUTAMINASE)
Proceedings of the National Academy of Sciences of the United Statesof America
Self-healing collodion baby - a transient disorder of cornification or a mild form of lamellar ichthyosis?
MONATSSCHRIFT KINDERHEILKUNDE
A NOVEL INSERTIONAL MUTATION IN LORICRIN IN VOHWINKELS-KERATODERMA
Journal of investigative dermatology
GENE-THERAPY FOR GENETIC SKIN-DISEASE
Journal of investigative dermatology
IN-VITRO AND RAPID IN-SITU TRANSGLUTAMINASE ASSAYS FOR CONGENITAL ICHTHYOSES - A COMPARATIVE-STUDY
Journal of investigative dermatology
ABNORMAL TRANSGLUTAMINASE-1 EXPRESSION PATTERN IN A SUBSET OF PATIENTS WITH ERYTHRODERMIC AUTOSOMAL RECESSIVE ICHTHYOSIS
Journal of investigative dermatology
ISOLATION OF A CDNA-ENCODING A NOVEL MEMBER OF THE TRANSGLUTAMINASE GENE FAMILY FROM HUMAN KERATINOCYTES - DETECTION AND IDENTIFICATION OF TRANSGLUTAMINASE GENE-PRODUCTS BASED ON REVERSE TRANSCRIPTION-POLYMERASE CHAIN-REACTION WITH DEGENERATE PRIMERS
The Journal of biological chemistry
GENERALIZED ERYTHROKERATODERMIA PROGRESSIVA SYMMETRICA DARIER-GOTTRON
Hautarzt
SEVERE CONGENITAL ICHTHYOSIS OF THE NEONATE
International journal of dermatology
EXPRESSION OF TRANSGLUTAMINASE-1 IN HUMAN HAIR-FOLLICLES, SEBACEOUS GLANDS AND SWEAT GLANDS
British journal of dermatology
INDIVIDUAL VARIATION OF HUMAN PLANTAR STRATUM-CORNEUM LIPIDS, DETERMINED BY AUTOMATED MULTIPLE DEVELOPMENT OF HIGH-PERFORMANCE THIN-LAYER CHROMATOGRAPHY PLATES
Journal of chromatography B. Biomedical sciences and applications
SUSTAINABLE CUTANEOUS GENE DELIVERY
Nature biotechnology
DIRECT CUTANEOUS GENE DELIVERY IN A HUMAN GENETIC SKIN-DISEASE
Human gene therapy
COLLODION BABY - ULTRASTRUCTURE AND DISTRIBUTION OF CORNIFIED CELL-ENVELOPE PROTEINS AND KERATINS
Dermatology
3 NOVEL POINT MUTATIONS IN THE KERATINOCYTE TRANSGLUTAMINASE (TGK) GENE IN LAMELLAR ICHTHYOSIS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL, TGK IMMUNODETECTION AND ACTIVITY
European journal of human genetics
ACTIVATION OF THE HUMAN TRANSGLUTAMINASE-1 PROMOTER IN TRANSGENIC MICE - TERMINAL DIFFERENTIATION-SPECIFIC EXPRESSION OF THE TGM1-LACZ TRANSGENE IN KERATINIZED STRATIFIED SQUAMOUS EPITHELIA
Human molecular genetics
LOCALIZATION OF A GENE FOR PAPILLON-LEFEVRE-SYNDROME TO CHROMOSOME 11Q14-Q21 BY HOMOZYGOSITY MAPPING
Human genetics
EXPRESSION OF TRANSGLUTAMINASE-1 (TRANSGLUTAMINASE-K) IN HARLEQUIN ICHTHYOSIS
Archives of dermatological research
PRENATAL-DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE
Prenatal diagnosis
ADULT PITYRIASIS-RUBRA-PILARIS - A 10-YEAR CASE SERIES
Journal of the American Academy of Dermatology
HARLEQUIN ICHTHYOSIS KERATINOCYTES IN LIFTED CULTURE DIFFERENTIATE POORLY BY MORPHOLOGIC AND BIOCHEMICAL CRITERIA
Journal of investigative dermatology
TOPICAL APPLICATION OF VIRAL VECTORS FOR EPIDERMAL GENE-TRANSFER
Journal of investigative dermatology
INVOLUCRIN AND SPRR ARE SYNTHESIZED SEQUENTIALLY IN DIFFERENTIATING CULTURED EPIDERMAL-CELLS
Journal of investigative dermatology
CONSEQUENCES OF 7 NOVEL MUTATIONS ON THE EXPRESSION AND STRUCTURE OF KERATINOCYTE TRANSGLUTAMINASE
The Journal of biological chemistry
EARLY PRESENTATION OF PITYRIASIS-RUBRA-PILARIS
Cutis