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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2014, Volume 111, Issue 11, pp. 4197 - 4202
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 556 - 564
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
Calcium (Ca 2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca 2+ levels regulates multiple cellular functions. Store‐operated... 
SOCE | ORAI1 | calcium | STIM1 | Stormorken syndrome | tubular aggregate myopathy | CA2+ ENTRY | PROTEIN | CONSTITUTIVE ACTIVATION | DEFICIENCY | OPERATED CALCIUM-CHANNEL | REGION | ORIGIN | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | CRAC CHANNEL | IMMUNODEFICIENCY | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal - metabolism | Mutation, Missense | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Miosis - genetics | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | ORAI1 Protein - genetics | Cells, Cultured | Spleen - abnormalities | Dyslexia - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Stromal Interaction Molecule 1 - metabolism | Animals | Ion Channel Gating - genetics | Microscopy, Fluorescence - methods | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Muscle Fatigue - genetics | Miosis - metabolism | Myopathies, Structural, Congenital - metabolism | Blood Platelet Disorders - metabolism | Muscles | Medicine, Experimental | Medical research | Genetic aspects | Permeability | Homeostasis | Mutation
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
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
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 9, pp. 861 - 872
Journal Article
Genetics, ISSN 0016-6731, 03/2011, Volume 187, Issue 3, pp. 643 - 657
Journal Article
Journal Article