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PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, pp. e29471 - e29471
Keratosis linearis with ichthyosis congenita and keratoderma (KLICK) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in... 
20S PROTEASOME | IN-VITRO | C/EBP-BETA | FILAGGRIN | BIOLOGY | KERATINOCYTES | CHOP | ENDOPLASMIC-RETICULUM STRESS | SKIN | DIFFERENTIATION | HUMAN EPIDERMIS | Epidermis - metabolism | RNA, Small Interfering - genetics | Epidermis - pathology | Protein Biosynthesis | Molecular Chaperones - metabolism | Skin Diseases - genetics | Skin Diseases - metabolism | Unfolded Protein Response - genetics | Humans | Gene Silencing | Molecular Chaperones - genetics | 5' Untranslated Regions - genetics | Skin Diseases - pathology | Endoplasmic Reticulum Stress - genetics | Gene Knockdown Techniques | Cell Differentiation - genetics | Phenotype | HeLa Cells | Mutation | Proteasome Endopeptidase Complex - metabolism | Skin Diseases - congenital | Intermediate Filament Proteins - metabolism | Molecular Chaperones - biosynthesis | Comparative analysis | Skin | Genetic transcription | Haplotypes | Transcription factors | Transcription | Laboratories | Staining | Homology | Filaggrin | CCAAT/enhancer-binding protein | Gene deletion | Proteins | Lysates | Genotype & phenotype | Immunology | Clonal deletion | Protein folding | Deletion | Maturation | Cloning | Keratinocytes | Cultures | siRNA | Ichthyosis | Hereditary diseases | Studies | Pathology | Genodermatosis | Biopsy | Aberration | Differentiation | Endoplasmic reticulum | Cancer | Apoptosis | Keratosis | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Clinical genetics | Medical and Health Sciences | Medicin och hälsovetenskap | MEDICIN | Medicinska och farmaceutiska grundvetenskaper | MEDICINE | Dermatologi och venerologi, klinisk genetik, invärtesmedicin | Klinisk genetik | Dermatology and venerology,clinical genetics, internal medicine
Journal Article
Human Mutation, ISSN 1059-7794, 08/2013, Volume 34, Issue 8, pp. 1160 - 1171
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 126 - 137
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006897 - e1006897
Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that... 
CLAUDINS | BARRIER | DISEASE | GENETICS & HEREDITY | ARCHITECTURE | TIGHT JUNCTION PROTEINS | CHANNELS | MUTATIONS | MODEL | SECRETION | EXPRESSION | Claudins - genetics | Renal Insufficiency - genetics | Epithelial Cells - metabolism | Kidney - pathology | Cations - metabolism | Humans | Hypohidrosis | Renal Insufficiency - metabolism | Mutation, Missense | Permeability | Microscopy, Electron | Kidney - metabolism | Animals | Claudins - metabolism | Protein Isoforms - metabolism | Renal Insufficiency - pathology | Tight Junctions | Biological Transport - genetics | Mice | Protein Isoforms - genetics | Causes of | Genetic aspects | Hyperhidrosis | Genetic variation | Health aspects | Visualization | Biotechnology | Membranes | Laboratories | Funding | Syngeneic grafts | Glands | Science | Homeostasis | Selectivity | Proteins | Immunology | Missense mutation | Physiology | Magnesium | Sweat | Supervision | Kidneys | Tight junctions | Secretion | Reabsorption | Roles | Electron microscopy | Hereditary diseases | Resistance | Pathology | Intolerance | Isoforms | Plasma membranes | Renal failure | Software | Cations | Genetic engineering | Conductance | Mutation | Three dimensional models | Hyperparathyroidism | Kidney transplantation | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2017, Volume 25, Issue 7, pp. 848 - 853
Journal Article
Lakartidningen, ISSN 0023-7205, 2010, Volume 107, Issue 17, pp. 1138 - 1139
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 3012 - 16
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1180 - 1184
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2008, Volume 17, Issue 23, pp. 3776 - 3783
Journal Article