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Journal of lipid research, ISSN 0022-2275, 12/2018, Volume 59, Issue 12, pp. 2360 - 2367
Mutations in the genes coding for patatin-like phospholipase domain-containing 1 (PNPLA1) and α/β-hydrolase domain-containing 5 (ABHD5), also known as... 
Index Medicus | disease | adipose triglyceride lipase | patatin-like phospholipase domain-containing 1 | fatty acid | lipid biochemistry | transferase | comparative gene identification 58 | β-hydrolase domain-containing 5 | ichthyosis | ceramides | epidermis
Journal Article
FASEB Journal, ISSN 0892-6638, 09/2017, Volume 31, Issue 9, pp. 4088 - 4103
Journal Article
The Journal of investigative dermatology, ISSN 0022-202X, 05/2019
Trichilemmal cysts are common hair follicle-derived intradermal cysts. The trait shows an autosomal dominant mode of transmission with incomplete penetrance.... 
Index Medicus
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 04/2019, Volume 139, Issue 4, pp. 760 - 768
The corneocyte lipid envelope (CLE), a monolayer of ω-hydroxyceramides whose function(s) remain(s) uncertain, is absent in patients with autosomal recessive... 
RENAL DYSFUNCTION | LIPOXYGENASES | CERAMIDES | STRATUM-CORNEUM | BARRIER FUNCTION | LIPASE | ESSENTIAL FATTY-ACID | EXPRESSION | CLE | HEPOXILIN PATHWAY | DERMATOLOGY
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 01/2018, Volume 138, Issue 1, pp. 109 - 120
The skin is in daily contact with environmental pollutants, but the long-term effects of such exposure remain underinvestigated. Many of these toxins bind and... 
ATOPIC-DERMATITIS | ARYL-HYDROCARBON RECEPTOR | GENE-EXPRESSION | FILAGGRIN GENE | KERATINOCYTES | SKIN | PREGNANE-X-RECEPTOR | CONTACT SENSITIZATION | T-CELLS | LANGERHANS CELLS | DERMATOLOGY | Index Medicus
Journal Article
Dermato-Endocrinology, ISSN 1938-1972, 04/2011, Volume 3, Issue 2, pp. 77 - 83
Keratinocyte differentiation is essential for skin development and the formation of the skin permeability barrier. This process involves an orchestrated... 
Proteins | Binding | Landes | Calcium | Biology | Bioscience | Cell | Cycle | Organogenesis | Cancer | CGI-58 | Triacylglycerol | ATGL | Ceramide | Keratinocyte | Lipids | ABHD5 | Ichthyosis | lipids | ceramide | triacylglycerol | keratinocyte | Review | ichthyosis
Journal Article
Journal Article
Nature Medicine, ISSN 1078-8956, 01/2011, Volume 17, Issue 9, pp. 1076 - 1085
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 02/2017, Volume 137, Issue 2, pp. 394 - 402
Mutations in have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms... 
PATHOGENESIS | MAINTENANCE | ABNORMALITIES | BARRIER | MUTATION | MENDELIAN DISORDERS | RECESSIVE CONGENITAL ICHTHYOSIS | DIFFERENTIATION | CORNEOCYTE | LIPIDS | DERMATOLOGY | Animals | Ichthyosis - etiology | Skin - metabolism | Mice, Inbred C57BL | Lipase - physiology | Mice | Permeability | Lipase - deficiency | Ceramides - biosynthesis | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2012, Volume 44, Issue 2, pp. 140 - 147
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 05/2011, Volume 286, Issue 20, pp. 17467 - 17477
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2010, Volume 285, Issue 10, pp. 7300 - 7311
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 2012, Volume 53, Issue 11, pp. 2307 - 2317
Journal Article