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Journal of Investigative Dermatology, ISSN 0022-202X, 05/2004, Volume 122, Issue 5, pp. 1235 - 1244
Corneodesmosin (CDSN), desmoglein 1 (DSG1), and desmocollin 1 (DSC1) are adhesive proteins of the extracellular part of the corneodesmosomes, the junctional... 
kallikreins | stratum corneum | cadherin | desmosomes | proteinases | epidermis | Desmosomes | Epidermis | Stratum corneum | Cadherin | Proteinases | Kallikreins | THIOL PROTEASE | CYSTEINE PROTEASE | HUMAN STRATUM-CORNEUM | CORNEUM CHYMOTRYPTIC ENZYME | HUMAN-EPIDERMIS | DERMATOLOGY | ENDOGENOUS PROTEOLYSIS | TERMINAL DIFFERENTIATION | PIG EPIDERMIS | NETHERTON-SYNDROME | INTERMEDIATE-FILAMENTS | Antibody Specificity | Cadherins - metabolism | Membrane Glycoproteins - metabolism | Humans | Glycoproteins - metabolism | Desmosomes - enzymology | Oligosaccharides - pharmacology | Cadherins - immunology | Serine Endopeptidases - genetics | Desmoglein 1 | Membrane Glycoproteins - immunology | Recombinant Proteins - metabolism | Epidermis - metabolism | Gene Expression | Cells, Cultured | Kallikreins - genetics | Glycosylation | Kidney - cytology | Recombinant Proteins - genetics | Desmocollins | Oligosaccharides - metabolism | Glycoproteins - immunology | Serine Endopeptidases - metabolism | Kallikreins - metabolism | Hydrogen-Ion Concentration | Index Medicus | Cells; Cultured | Cadherins/immunology/metabolism | Glycoproteins/immunology/metabolism | Serine Endopeptidases/genetics/metabolism | Desmosomes/enzymology | Oligosaccharides/metabolism/pharmacology | Epidermis/metabolism | Kidney/cytology | Kallikreins/genetics/metabolism | Recombinant Proteins/genetics/metabolism | Membrane Glycoproteins/immunology/metabolism
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
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
Circulation Research, ISSN 0009-7330, 05/2009, Volume 104, Issue 9, pp. 1076 - 1084
The phenotypic hallmark of arrhythmogenic right ventricular cardiomyopathy, a genetic disease of desmosomal proteins, is fibroadipocytic replacement of the... 
Heart failure | Desmosomes | Wnt signaling | Adipocytes | Progenitor cells | PLAKOGLOBIN | heart failure | CARDIAC & CARDIOVASCULAR SYSTEMS | progenitor cells | MECHANISMS | BETA-CATENIN | DESMOPLAKIN | ADIPOGENESIS | RECESSIVE MUTATION | HYPERTROPHIC CARDIOMYOPATHY | CARDIAC PHENOTYPE | WNT/BETA-CATENIN | WOOLLY HAIR | PERIPHERAL VASCULAR DISEASE | desmosomes | HEMATOLOGY | adipocytes | Homeodomain Proteins - metabolism | Humans | Myosin Heavy Chains - genetics | Stem Cells - metabolism | Wnt Proteins - metabolism | Myosin Heavy Chains - metabolism | Arrhythmogenic Right Ventricular Dysplasia - genetics | TCF Transcription Factors - metabolism | Desmoplakins - deficiency | Myocardium - metabolism | Echocardiography, Doppler | Adult | Arrhythmogenic Right Ventricular Dysplasia - pathology | Adipogenesis - genetics | Arrhythmogenic Right Ventricular Dysplasia - metabolism | Cell Lineage - genetics | MEF2 Transcription Factors | Disease Models, Animal | Myogenic Regulatory Factors - genetics | Signal Transduction | gamma Catenin - genetics | gamma Catenin - metabolism | Myogenic Regulatory Factors - metabolism | Genotype | Mice, Transgenic | Myocardium - pathology | Transcription Factors - genetics | Adipocytes - pathology | Transcription Factor 7-Like 2 Protein | Homeodomain Proteins - genetics | MADS Domain Proteins - metabolism | Transcription Factors - metabolism | Homeobox Protein Nkx-2.5 | Phenotype | Animals | Adipocytes - metabolism | Bone Morphogenetic Protein 7 - metabolism | Fibrosis | Stem Cells - pathology | LIM-Homeodomain Proteins | Mice | Index Medicus
Journal Article
PloS one, ISSN 1932-6203, 2012, Volume 7, Issue 11, pp. e47842 - e47842
Birt-Hogg-Dube (BHD) is a tumor suppressor gene syndrome associated with fibrofolliculomas, cystic lung disease, and chromophobe renal cell carcinoma. In... 
EPITHELIAL-MESENCHYMAL TRANSITION | SPONTANEOUS PNEUMOTHORAX | FLCN | TUBEROUS SCLEROSIS COMPLEX | MULTIDISCIPLINARY SCIENCES | RHO | MTOR ACTIVATION | MUTATIONS | DESMOPLAKIN | BHD | FAMILY | Hair - abnormalities | Humans | Hair - metabolism | Wound Healing | Adherens Junctions - metabolism | Catenins - metabolism | Tumor Suppressor Proteins - deficiency | Tumor Suppressor Proteins - genetics | Epidermis - abnormalities | Integrases - metabolism | Zonula Occludens-1 Protein - metabolism | Proto-Oncogene Proteins - metabolism | Cell Line | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Hair - pathology | Tumor Suppressor Proteins - metabolism | gamma Catenin - metabolism | Proto-Oncogene Proteins - genetics | Keratin-14 - metabolism | Proto-Oncogene Proteins - deficiency | Cell Adhesion | Animals | Models, Biological | rho GTP-Binding Proteins - metabolism | Dogs | Protein Binding | Mice | Plakophilins - metabolism | Cell Movement | Physiological aspects | Keratin | Genetic aspects | Genes | Tumors | TOR protein | Eyelid | Pathogenesis | Lung | Hyperplasia | Cell junctions | Critical care | Cardiovascular disease | Biology | Recombinase | Kinases | Autophagy | Medical schools | Cell adhesion & migration | Cell adhesion molecules | Proteins | Animal tissues | Cell adhesion | Polarity | Tumorigenesis | p0071 Protein | Biomedical engineering | Medical research | Lung diseases | RhoA protein | Epidermis | Adherens junctions | Rapamycin | Adhesion | Rho-associated kinase | Flox | Medicine | Signaling | Hospitals | Tumor suppressor genes | Mutation | Emphysema | Prostate | Cytoplasm | Clear cell-type renal cell carcinoma | Kidney transplantation | Cancer | Index Medicus
Journal Article
Journal Article
International Journal of Cancer, ISSN 0020-7136, 12/2011, Volume 129, Issue 11, pp. 2588 - 2599
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2009, Volume 106, Issue 25, pp. 10213 - 10218
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 08/2015, Volume 464, Issue 1, pp. 76 - 82
Major depression, one of the most prevalent mental illnesses, is thought to be a multifactorial disease related to both genetic and environmental factors.... 
Chronic stress | Desmosome | Major depression | Sgk1 | Oligodendrocytes | DEPRESSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MECHANISMS | INHIBITION | BIOPHYSICS | CALCIUM | DIFFERENTIATION | DENTATE GYRUS | PEMPHIGUS | EPIDEMIOLOGY | Oligodendroglia - metabolism | RNA, Small Interfering - genetics | Phosphorylation | Corpus Callosum - metabolism | Cadherins - metabolism | alpha Catenin - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | Immediate-Early Proteins - metabolism | Desmoglein 1 - genetics | Desmoglein 1 - metabolism | Dexamethasone - pharmacology | Oligodendroglia - drug effects | Stress, Psychological - metabolism | Protein-Serine-Threonine Kinases - antagonists & inhibitors | Cell Cycle Proteins - genetics | Corticosterone - blood | Cadherins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | Desmoglein 2 - metabolism | Desmoglein 2 - genetics | Signal Transduction | Mice, Inbred C57BL | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | beta Catenin - metabolism | beta Catenin - genetics | Oligodendroglia - pathology | Stress, Psychological - pathology | Stress, Psychological - genetics | Animals | Immediate-Early Proteins - genetics | Corpus Callosum - pathology | Mice | alpha Catenin - genetics | Primary Cell Culture | Immediate-Early Proteins - antagonists & inhibitors | RNA, Small Interfering - metabolism | Proteins | Dexamethasone | RNA | Stress (Psychology) | Corticosterone | Depression, Mental | Index Medicus
Journal Article