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Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1268 - 1276
Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein... 
Allergy and Immunology | desmoplakin | skin barrier | eosinophilic esophagitis | atopic dermatitis | desmosome | atopic sensitization | Atopy | SUBSTITUTION | HAIR | VARIANTS | FILAGGRIN | BARRIER | IMMUNOLOGY | DESMOSOMES | PALMOPLANTAR KERATODERMA | ALLERGY | SERINE-PROTEASE INHIBITOR | SKIN | DIFFERENTIATION | Dermatitis - genetics | Humans | Child, Preschool | Infant | Male | Protein Structure, Tertiary - genetics | Wasting Syndrome - genetics | Disease Progression | Mutation, Missense - genetics | Wasting Syndrome - diagnosis | Desmoglein 1 - genetics | Desmoplakins - genetics | DNA Mutational Analysis | Pedigree | Hypersensitivity - diagnosis | Hypersensitivity - genetics | Child | Infant, Newborn | Skin - pathology | Dermatitis - diagnosis | Allergy | Medical colleges | Molecular genetics | Genetic aspects | Skin | Inflammation | Dermatitis | Allergic reaction | Food allergies | Immunoglobulins | Disease | Pathogenesis | Metabolism | Patients | Proteins | Genotype & phenotype | Ostomy | Antibiotics | Biopsy | Sepsis | Mutation | Endoscopy | Age | DSG1, Desmoglein 1 gene | AD, Atopic dermatitis | PPK, Palmoplantar keratoderma | aCGH, Array comparative genome hybridization | SAM, Severe dermatitis, multiple allergies, and metabolic wasting | Atopic Dermatitis and Skin Disease | SNP, Single nucleotide polymorphism | SPINK5, Serine protease inhibitor Kazal-type 5 gene | DSP, Desmoplakin gene | WES, Whole-exome sequencing
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 9/2003, Volume 162, Issue 6, pp. 1111 - 1122
Using the Cre/loxP system we conditionally inactivated β-catenin in endothelial cells. We found that early phases of vasculogenesis and angiogenesis were not... 
Yolk sac | Intercellular junctions | Cell lines | Desmoplakins | Antibodies | Blood vessels | Cultured cells | Embryos | Endothelial cells | Cells | Angiogenesis | Vasculogenesis | Vascular permeability | Desmoplakin adherens junctions | desmoplakin | vasculogenesis | angiogenesis | CRE RECOMBINASE | adherens junctions | CELL BIOLOGY | SIGNAL-TRANSDUCTION | MOUSE DEVELOPMENT | TIGHT JUNCTIONS | PROTEIN INTERACTIONS | IN-VIVO | VE-CADHERIN | EMBRYONIC LETHALITY | vascular permeability | TRANSCRIPTION FACTOR | TRANSGENIC MICE | Blood Vessels - abnormalities | Cytoskeletal Proteins - genetics | Blood Vessels - pathology | Actins - metabolism | Blood Vessels - ultrastructure | Gene Expression Regulation, Developmental - genetics | Endocardium - pathology | Capillary Permeability - genetics | Cell Membrane Permeability - genetics | Endocardium - abnormalities | Actins - genetics | Cytoskeletal Proteins - deficiency | Endothelium, Vascular - ultrastructure | Intercellular Junctions - pathology | Trans-Activators - genetics | Cytoskeletal Proteins - metabolism | Fetus | Disease Models, Animal | Cell Adhesion - genetics | Cytoskeleton - pathology | beta Catenin | Neovascularization, Physiologic - genetics | Cells, Cultured | Cytoskeleton - genetics | Cytoskeleton - ultrastructure | Intercellular Junctions - genetics | Microscopy, Electron | Down-Regulation - genetics | Mice, Knockout | Animals | Trans-Activators - deficiency | Endocardium - ultrastructure | Endothelium, Vascular - abnormalities | Genes, Lethal - genetics | Endothelium, Vascular - pathology | Mice | Intercellular Junctions - ultrastructure | Gene Silencing - physiology | desmoplakin; adherens junctions; angiogenesis; vasculogenesis; vascular permeability
Journal Article
Cardiovascular Research, ISSN 0008-6363, 07/2018, Volume 114, Issue 8, pp. 1082 - 1097
Journal Article
Journal Article
JOURNAL OF INVESTIGATIVE DERMATOLOGY, ISSN 0022-202X, 02/2013, Volume 133, Issue 2, pp. 578 - 579
Journal Article
Circulation Research, ISSN 0009-7330, 12/2017, Volume 121, Issue 12, pp. 1346 - 1359
RATIONALE: Arrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and... 
Antigens | Myocytes, Cardiac | Proteoglycans | Humans | Arrhythmogenic Right Ventricular Dysplasia | Cells, Cultured | Desmoplakins | Keratinocytes | Syndrome | Journal Article | Phenotype | Animals | Mice | Mutation | Keratosis | arrhythmogenic right ventricular dysplasia | death, sudden | desmosomes | neuroglia | desmoplakins | CARDIAC & CARDIOVASCULAR SYSTEMS | CONDUCTION SYSTEM | INTERCALATED DISKS | SCN5A MUTATIONS | DILATED CARDIOMYOPATHY | RECESSIVE MUTATION | HEART-MUSCLE CELLS | HYPERTROPHIC CARDIOMYOPATHY | WOOLLY HAIR | PERIPHERAL VASCULAR DISEASE | CHONDROITIN SULFATE PROTEOGLYCAN | HEMATOLOGY | RIGHT-VENTRICULAR CARDIOMYOPATHY | Keratosis - genetics | Arrhythmogenic Right Ventricular Dysplasia - genetics | Myocytes, Cardiac - pathology | Keratinocytes - pathology | Desmoplakins - genetics | Keratinocytes - metabolism | Keratosis - metabolism | Myocytes, Cardiac - metabolism | Desmoplakins - metabolism | Arrhythmogenic Right Ventricular Dysplasia - metabolism | Proteoglycans - genetics | Antigens - genetics | Cardiac arrhythmia | Conduction | Phenotypes | Baldness | Transcription | Cardiomyopathy | Gene regulation | Gene deletion | Alopecia | Fibrillation | Clonal deletion | Skin | Chondroitin sulfate | Sulfate | Ventricle | Heart diseases | Catenin | Mechanisms | Neuroglial cells | Cardiocutaneous syndrome | Desmoplakin | Sudden death | Animal Models of Human Disease | desmosome | arrhythmogenic right ventricular cardiomyopathy | Myocardial Biology | Arrhythmias | desmosome cardiomyopathy
Journal Article
Journal of Molecular Biology, ISSN 0022-2836, 11/2013, Volume 425, Issue 21, pp. 4006 - 4022
Journal Article
Europace, ISSN 1099-5129, 06/2010, Volume 12, Issue 6, pp. 861 - 868
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 9/2018, Volume 198, Issue 5, pp. 599 - 609
Rationale: DSP (desmoplakin), the most abundant component of desmosomes, which maintain the mechanical integrity of epithelium, is a genome-wide association... 
desmoplakin | CRISPR | matrix stiffness | dCas9 | Original | lung fibrosis | epigenome editing
Journal Article
Journal of Cell Science, ISSN 0021-9533, 06/2012, Volume 125, Issue 12, pp. 2853 - 2861
Journal Article
Experimental Cell Research, ISSN 0014-4827, 2007, Volume 313, Issue 10, pp. 2189 - 2203
Plakins are large multi-domain molecules that have various functions to link cytoskeletal elements together and to connect them to junctional complexes.... 
Spectrin | Plectin | MACF | Epidermolysis bullosa | Cardiomyopathy | Desmoplakin | Plakin | Cytoskeleton | Cytolinker | BPAG | Muscular dystrophy | desmoplakin | RETROGRADE AXONAL-TRANSPORT | EPIDERMOLYSIS-BULLOSA SIMPLEX | epidermolysis bullosa | cytoskeleton | LINKING FACTOR MACF | INTERMEDIATE-FILAMENT-BINDING | CELL BIOLOGY | muscular dystrophy | PALMOPLANTAR KERATODERMA | ONCOLOGY | plakin | STRATIFIED EPITHELIA | cytolinker | spectrin | CYTOSKELETAL LINKER PROTEIN | plectin | cardiomyopathy | INTEGRIN BETA-4 SUBUNIT | MUSCLE-TENDON JUNCTION | RIGHT-VENTRICULAR CARDIOMYOPATHY | Plectin - genetics | Cytoskeletal Proteins - genetics | Humans | Plectin - metabolism | Plakins - genetics | Plakins - metabolism | Microtubules - metabolism | Desmoplakins - genetics | Microtubules - ultrastructure | Cytoskeletal Proteins - metabolism | Microfilament Proteins - metabolism | Desmoplakins - metabolism | Cell Differentiation - physiology | Microfilament Proteins - genetics | Cytoskeleton - pathology | Cytoskeleton - ultrastructure | Dystonin | Microtubules - pathology | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Cytoskeleton - metabolism | Evolution, Molecular | Actin | Proteins | Cellular biology | Disease | Molecular biology | Gene expression
Journal Article