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Nature Genetics, ISSN 1061-4036, 12/2006, Volume 38, Issue 12, pp. 1378 - 1385
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1410 - 1419.e13
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | DESIGN | DOCK8 | STAT3 | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | PROBES | ALLERGY | CLONING | CONGENITAL DISORDERS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Immunologi inom det medicinska området | Immunology in the medical area
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 06/2011, Volume 52, Issue 6, pp. 1128 - 1138
Elongase of very long chain fatty acids-4 (ELOVL4) is the only mammalian enzyme known to synthesize C28-C36 fatty acids. In humans, ELOVL4 mutations cause... 
Elongase of very long chain fatty acids-4 | Very long chain C28-C36 fatty acids | Skin permeability barrier | Acylceramides | PERMEABILITY BARRIER FUNCTION | WILD-TYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | acylceramides | DYSTROPHY PROTEIN ELOVL4 | elongase of very long chain fatty acids-4 | very long chain C28-C36 fatty acids | GENE | CHAIN FATTY-ACIDS | BIOSYNTHESIS | MUTATION | MACULAR DYSTROPHY | skin permeability barrier | SKIN | INVOLUCRIN PROMOTER | Retina - metabolism | Humans | Tolonium Chloride - pharmacokinetics | Phosphatidylcholines - metabolism | Founder Effect | Transfection | Fatty Acids - genetics | Membrane Proteins - metabolism | Eye Proteins - genetics | Transgenes | Fatty Acids - metabolism | Disease Models, Animal | Animals, Newborn | Epidermis - metabolism | Promoter Regions, Genetic | Chromosome Disorders - pathology | Epidermis - pathology | Ceramides - metabolism | Protein Precursors - genetics | Chromosome Disorders - metabolism | Membrane Proteins - genetics | Epidermis - drug effects | Mice, Transgenic | Permeability | Tolonium Chloride - analysis | Chromosomes, Human, Pair 6 - genetics | Protein Precursors - metabolism | Ceramides - genetics | Homozygote | Macular Degeneration - metabolism | Phosphatidylcholines - genetics | Animals | Macular Degeneration - congenital | Chromosomes, Human, Pair 6 - metabolism | Eye Proteins - metabolism | Macular Degeneration - genetics | Plasmids | Heterozygote | Mice | Mutation | Retina - pathology | Chromosome Disorders - genetics | Macular Degeneration - pathology
Journal Article
European Journal of Haematology, ISSN 0902-4441, 11/2015, Volume 95, Issue 5, pp. 436 - 441
Journal Article