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Journal of Investigative Dermatology, ISSN 0022-202X, 04/2010, Volume 130, Issue 4, pp. 968 - 978
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4064 - 4076
iRHOM2 is a highly conserved, catalytically inactive member of the Rhomboid family, which has recently been shown to regulate the maturation of the... 
CULTURED HUMAN KERATINOCYTES | GROWTH-FACTOR RECEPTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEPARIN-BINDING EGF | PSORIATIC EPIDERMIS | GENETICS & HEREDITY | SQUAMOUS-CELL CARCINOMA | GENE-EXPRESSION | AUTOCRINE GROWTH | TGF-ALPHA | NECROSIS-FACTOR-ALPHA | ESOPHAGEAL CANCER | ADAM17 Protein | RNA, Small Interfering - genetics | Keratoderma, Palmoplantar - genetics | Staphylococcus aureus - physiology | Esophageal Neoplasms - microbiology | Humans | ErbB Receptors - genetics | Staphylococcal Skin Infections - metabolism | Transglutaminases - genetics | Male | Esophageal Neoplasms - pathology | Desmosomes - pathology | Epidermis - microbiology | Keratoderma, Palmoplantar - metabolism | Keratoderma, Palmoplantar - pathology | Esophageal Neoplasms - metabolism | Female | Keratinocytes - microbiology | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | ADAM Proteins - antagonists & inhibitors | ErbB Receptors - metabolism | Signal Transduction | Epidermal Growth Factor - genetics | Gene Expression Regulation | Epidermal Growth Factor - metabolism | Staphylococcal Skin Infections - pathology | Carrier Proteins - genetics | ADAM Proteins - metabolism | Keratinocytes - pathology | Carrier Proteins - metabolism | Esophageal Neoplasms - genetics | Keratinocytes - metabolism | Transglutaminases - metabolism | Mutation | ADAM Proteins - genetics | Keratoderma, Palmoplantar - microbiology | Staphylococcal Skin Infections - microbiology | Cytokines - biosynthesis | RNA, Small Interfering - metabolism | Staphylococcal Skin Infections - genetics | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - e0161465
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the... 
SPHINGOLIPID METABOLISM | TRANSPORTER ABCA12 | GENE | MULTIDISCIPLINARY SCIENCES | GOLGI-APPARATUS | LAMELLAR GRANULES | EPIDERMAL-KERATINOCYTES | MICE | TERMINAL DIFFERENTIATION | MUTATIONS | PERMEABILITY BARRIER | Exons | Skin - metabolism | Ichthyosis, Lamellar - therapy | ATP-Binding Cassette Transporters - genetics | Base Sequence | Skin Transplantation | Skin - pathology | Disease Models, Animal | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Chromosome Mapping | Permeability | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Animals | Epidermis - ultrastructure | Ichthyosis, Lamellar - genetics | Keratinocytes - metabolism | Models, Biological | Alleles | Skin - ultrastructure | Mice | Mutation | Glucosylceramides - metabolism | Kallikreins - metabolism | Ichthyosis, Lamellar - pathology | Gene mutations | Physiological aspects | Genetic aspects | Skin | Research | Risk factors | Ichthyosis | Neonates | Animal models | Calcium | Transcription | Veterans | Lamellae | Lipids | Defects | Ceramide glucosyltransferase | Metabolites | Proteolysis | Ceramide | Skin diseases | Enzymes | Congenital diseases | Stratum corneum | Dermatology | Intracellular levels | Secretion | Proteolytic enzymes | Kallikrein | Keratinocytes | Cell division | Epidermis | Metabolism | Ribonucleic acid--RNA | Mutants | Medicine | Pathology | Hypotheses | Index Medicus | RNA | Ribonucleic acid
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2017, Volume 12, Issue 3, pp. e0174019 - e0174019
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 05/2012, Volume 29, Issue 3, pp. 311 - 315
Hereditary mucoepithelial dysplasia (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal erythema, and visual... 
GAP-JUNCTION | DESMOSOME | PEDIATRICS | DISEASE | DERMATOLOGY | Erythema - pathology | Perineum - pathology | Humans | Alopecia - pathology | Desmosomes - pathology | Mucous Membrane - pathology | Biopsy | Adolescent | Female | Keratosis - pathology | Skin Abnormalities - pathology | Mouth Mucosa - pathology | Child | Skin - pathology | Index Medicus
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 07/2006, Volume 126, Issue 7, pp. 1609 - 1621
Mutations in the gene encoding the serine protease (SP) inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI), cause Netherton syndrome (NS), a... 
PROTEINASE-INHIBITOR | SPINK5 | STRATUM-CORNEUM | MICE | MUTATIONS | DIFFERENTIATION | CORNEUM CHYMOTRYPTIC ENZYME | PERMEABILITY BARRIER HOMEOSTASIS | HUMAN EPIDERMIS | DERMATOLOGY | Dermatitis, Atopic - genetics | Desmosomes - ultrastructure | Humans | Serine Peptidase Inhibitor Kazal-Type 5 | Epidermis - chemistry | Hair Follicle - abnormalities | Membrane Glycoproteins - physiology | Hair Follicle - physiopathology | Kallikreins - analysis | Adult | Child | Abnormalities, Multiple - genetics | Carrier Proteins - physiology | Severity of Illness Index | Epidermis - pathology | Desmoglein 1 - physiology | Gene Expression Regulation | Mice, Transgenic | Dermatitis, Atopic - pathology | Desmocollins | Syndrome | Carrier Proteins - genetics | Phenotype | Animals | Proteinase Inhibitory Proteins, Secretory | Cell Membrane Permeability - physiology | Ichthyosis, Lamellar - genetics | Adolescent | Desmosomes - physiology | Mice | Serine Endopeptidases - metabolism | Enzyme Activation | Mutation | Ichthyosis, Lamellar - pathology | Index Medicus | Carrier Proteins/genetics/physiology | Mice; Transgenic | Hair Follicle/abnormalities/physiopathology | Membrane Glycoproteins/physiology | Proteinase Inhibitory Proteins; Secretory | Abnormalities; Multiple/genetics | Ichthyosis; Lamellar/genetics/pathology | Dermatitis; Atopic/genetics/pathology | Serine Endopeptidases/metabolism | Epidermis/chemistry/pathology | Desmoglein 1/physiology | Kallikreins/analysis | Cell Membrane Permeability/physiology | Desmosomes/physiology/ultrastructure
Journal Article
Journal of Cell Science, ISSN 0021-9533, 02/2012, Volume 125, Issue 4, pp. 1058 - 1067
Journal Article
Circulation, ISSN 0009-7322, 2011, Volume 123, Issue 23, pp. 2690 - U87