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Journal of the American Veterinary Medical Association, ISSN 0003-1488, 12/2013, Volume 243, Issue 12, pp. 1701 - 1703
Journal Article
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 556 - 564
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1121 - 1132
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation | Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 825 - 12
STIM1 and Orai1 are key components of the Ca2+-release activated Ca2+ (CRAC) current. Orai1, which represents the subunit forming the CRAC channel complex, is... 
CHANNEL FUNCTION | OPERATED CALCIUM-ENTRY | ORAI CHANNELS | MULTIDISCIPLINARY SCIENCES | MUTATION | CA2+ SENSOR | STORE | INTERACTION MOLECULE-1 STIM1 | PLASMA-MEMBRANE | SAM DOMAIN | CRAC CHANNEL | Calcium - metabolism | Dyslexia - metabolism | Humans | Dyslexia - pathology | Green Fluorescent Proteins - genetics | Calcium - chemistry | ORAI1 Protein - chemistry | Migraine Disorders - pathology | Stromal Interaction Molecule 1 - chemistry | Neoplasm Proteins - genetics | Binding Sites | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | Gene Expression | Models, Molecular | Recombinant Proteins - chemistry | Neoplasm Proteins - chemistry | Patch-Clamp Techniques | Migraine Disorders - genetics | Miosis - pathology | Luminescent Proteins - genetics | Muscle Fatigue - genetics | Miosis - metabolism | Blood Platelet Disorders - pathology | Ichthyosis - metabolism | Protein Multimerization | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | HEK293 Cells | Ichthyosis - genetics | Ion Transport | Protein Interaction Domains and Motifs | Spleen - pathology | Genes, Reporter | Recombinant Proteins - metabolism | Green Fluorescent Proteins - metabolism | Protein Conformation, alpha-Helical | ORAI1 Protein - genetics | Bacterial Proteins - genetics | Gene Expression Regulation | Recombinant Proteins - genetics | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Stromal Interaction Molecule 1 - metabolism | Erythrocytes, Abnormal - pathology | Spleen - metabolism | Protein Binding | Bacterial Proteins - metabolism | Blood Platelet Disorders - metabolism | Amino Acid Substitution | Luminescent Proteins - metabolism | Calcium channels | STIM1 protein | Activation | Exposure | Orai1 protein | Elongation | Calcium ions | Index Medicus
Journal Article
Journal of Dermatological Science, ISSN 0923-1811, 12/2018, Volume 92, Issue 3, pp. 245 - 253
mutations cause Chanarin–Dorfman syndrome accompanied by ichthyosis. ω- -Acylceramide (acylceramide) is essential for skin permeability barrier formation.... 
Chanarin–Dorfman syndrome | Lipid droplet | Acylceramide | Lipid | Ichthyosis | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - 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 | Index Medicus | RNA | Ribonucleic acid
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1323 - 1329
In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the... 
phosphoglycerate dehydrogenase | magnetic resonance imaging | Neu‐Laxova syndrome | prenatal diagnosis | serine metabolism | Serine metabolism | Prenatal diagnosis | Phosphoglycerate dehydrogenase | Magnetic resonance imaging | Neu-Laxova syndrome | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Microcephaly - genetics | Seizures - genetics | Humans | Brain Diseases - genetics | Molecular Sequence Data | Fetal Growth Retardation - genetics | Male | Carbohydrate Metabolism, Inborn Errors - genetics | Genes, Lethal | Genetic Variation | Ichthyosis - pathology | Psychomotor Disorders - genetics | Seizures - pathology | Base Sequence | Microcephaly - pathology | Ichthyosis - genetics | Female | Fetus | Fetal Growth Retardation - diagnosis | Abnormalities, Multiple - genetics | Infant, Newborn | Carbohydrate Metabolism, Inborn Errors - diagnosis | Ichthyosis - diagnosis | Severity of Illness Index | Gene Expression | Brain Diseases - diagnosis | Psychomotor Disorders - pathology | Microcephaly - diagnosis | Genotype | Seizures - diagnosis | Codon, Nonsense | Carbohydrate Metabolism, Inborn Errors - pathology | Sequence Analysis, DNA | Fetal Growth Retardation - pathology | Phosphoglycerate Dehydrogenase - genetics | Homozygote | Limb Deformities, Congenital - diagnosis | Phenotype | Brain Diseases - pathology | Pedigree | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Psychomotor Disorders - diagnosis | Consanguinity | Phosphoglycerate Dehydrogenase - deficiency | Limb Deformities, Congenital - pathology | Genetic aspects | Codon | Nucleotide sequencing | Pregnant women | Genes | DNA sequencing | Index Medicus
Journal Article
Journal Article
Journal Article
American Journal of Pathology, The, ISSN 0002-9440, 2009, Volume 175, Issue 4, pp. 1453 - 1463
Journal Article