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Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 912 - 928
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, p. 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 | RNA | Ribonucleic acid
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 05/2016, Volume 174, Issue 5, pp. 1160 - 1161
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2006, Volume 15, Issue 5, pp. 767 - 776
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 02/2018, Volume 178, Issue 2, pp. e142 - e142
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 926 - 939
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 | 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