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striate palmoplantar keratoderma (76) 76
humans (63) 63
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Journal of Dermatology, ISSN 0385-2407, 03/2016, Volume 43, Issue 3, pp. 264 - 274
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 11/2019, Volume 83, Issue 6, pp. 472 - 476
Palmoplantar keratoderma (PPK) is a heterogenous group of skin disorders characterized by a persistent thickening of the palms of the hands and sometimes soles... 
linkage analysis | dominant mutation | Striate Palmoplantar keratoderma | DSG1 gene | Genetic research | Keratin | Genetic aspects | Gene mutations | Genes | Frameshift mutation | Skin diseases | Mutation | Palmoplantar keratoderma | Linkage analysis
Journal Article
The Journal of Dermatology, ISSN 0385-2407, 03/2016, Volume 43, Issue 3, pp. 264 - 274
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK... 
transgrediens | punctate | diffuse | focal | striate
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 09/2009, Volume 161, Issue 3, pp. 692 - 694
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2013, Volume 123, Issue 4, pp. 1556 - 1570
Genetic disorders of the Ras/MAPK pathway, termed RASopathies, produce numerous abnormalities, including cutaneous keratodermas. The desmosomal cadherin,... 
REGULATED KINASE | MEDICINE, RESEARCH & EXPERIMENTAL | KERATINOCYTE DIFFERENTIATION | DESMOSOMAL CADHERIN DESMOGLEIN-1 | NF2 TUMOR-SUPPRESSOR | TYROSINE PHOSPHORYLATION | NOONAN-LIKE SYNDROME | PROTEIN-KINASE | STRIATE PALMOPLANTAR KERATODERMA | MAP KINASE ACTIVATION | NONSENSE MUTATION | Adaptor Proteins, Signal Transducing - chemistry | RNA, Small Interfering - genetics | Humans | Desmocollins - metabolism | Extracellular Signal-Regulated MAP Kinases - antagonists & inhibitors | ras Proteins - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | Extracellular Signal-Regulated MAP Kinases - metabolism | Gene Knockdown Techniques | MAP Kinase Signaling System | Lamins - genetics | Young Adult | Desmoglein 1 - genetics | Desmoglein 1 - metabolism | Keratoderma, Palmoplantar - metabolism | Keratoderma, Palmoplantar - pathology | Lamins - metabolism | Adult | Female | Cell Differentiation | Protein Interaction Domains and Motifs | Epidermis - pathology | Cells, Cultured | Desmoglein 1 - physiology | Protein Transport | Keratinocytes - metabolism | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Protein Binding | Protein Kinase Inhibitors - pharmacology | Enzyme Activation | Primary Cell Culture | Adaptor Proteins, Signal Transducing - metabolism | Keratinocytes - physiology | Genetic disorders | Analysis | Epidermis | Cadherins | Genetic aspects | Cellular signal transduction | Research | Cell differentiation
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 2008, Volume 1778, Issue 3, pp. 572 - 587
Desmosomes are intercellular junctions of epithelia and cardiac muscle. They resist mechanical stress because they adopt a strongly adhesive state in which... 
SCALDED-SKIN SYNDROME | PROTEIN-KINASE-C | PEMPHIGUS-VULGARIS-IGG | BIOPHYSICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PLAKOGLOBIN-BINDING | INTERMEDIATE-FILAMENT NETWORKS | BETA-CATENIN | BINDING-SITES | STRIATE PALMOPLANTAR KERATODERMA | CELL CARCINOMA LINE | RIGHT-VENTRICULAR CARDIOMYOPATHY | Embryonic development
Journal Article
Journal Article
Cold Spring Harbor perspectives in biology, ISSN 1943-0264, 2009, Volume 1, Issue 2, pp. a002543 - a002543
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2018, Volume 495, Issue 2, pp. 1998 - 2003
Desmosomes are cell-cell adhesion junctions that anchor intermediate filaments. Loss of 14-3-3γ in HCT116 cells led to defects in desmosome assembly due to a... 
Plakoglobin | Desmosome | 14-3-3γ | Cell-cell adhesion | BIOCHEMISTRY & MOLECULAR BIOLOGY | DESMOPLAKIN | HUMAN AUTOANTIBODIES | 14-3-3 gamma | CADHERIN | ADHESION | BIOPHYSICS | WOOLLY HAIR | IN-VIVO | DISEASE | PEMPHIGUS | STRIATE PALMOPLANTAR KERATODERMA | BINDING
Journal Article
Journal Article