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stormorken syndrome (14) 14
humans (11) 11
stim1 (11) 11
tubular aggregate myopathy (11) 11
orai1 (9) 9
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index medicus (8) 8
blood platelet disorders - genetics (7) 7
genetic aspects (7) 7
male (7) 7
miosis - genetics (7) 7
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constitutive activation (6) 6
dyslexia - genetics (6) 6
ichthyosis - genetics (6) 6
migraine disorders - genetics (6) 6
miosis (6) 6
muscle fatigue - genetics (6) 6
mutation (6) 6
neoplasm proteins - genetics (6) 6
adult (5) 5
calcium - metabolism (5) 5
clinical neurology (5) 5
myopathies, structural, congenital - genetics (5) 5
skeletal-muscle (5) 5
york platelet syndrome (5) 5
crac channel (4) 4
deficiency (4) 4
genetics & heredity (4) 4
myopathy (4) 4
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cell biology (3) 3
channels (3) 3
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miosis - metabolism (3) 3
mutations (3) 3
neurology (3) 3
orai1 protein - genetics (3) 3
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stromal interaction molecule-1 (3) 3
anemia (2) 2
animals (2) 2
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calcium sensor stim1 (2) 2
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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. 1221 - 1232
ABSTRACT Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with... 
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
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 03/2015, Volume 2, Issue C, pp. 80 - 80
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2015, Volume 1356, Issue 1, pp. 45 - 79
Ca2+ release‐activated Ca2+ (CRAC) channels mediate a specific form of Ca2+ influx called store‐operated Ca2+ entry (SOCE) that contributes to the function of... 
calcium | disease | thrombocytopenia | channelopathy | enamel | CRAC channel | ameloblast | platelets | York platelet syndrome | mutation | STIM1 | muscular hypotonia | autoimmunity | Ca2 | Stormorken syndrome | SOCE | ORAI1 | skeletal muscle | tubular aggregate myopathy | Autoimmunity | Thrombocytopenia | Calcium | Disease | Channelopathy | Tubular aggregate myopathy | Enamel | Muscular hypotonia | Skeletal muscle | Mutation | Platelets | Ameloblast | OPERATED CA2+ ENTRY | SEVERE COMBINED IMMUNODEFICIENCY | IMMUNOLOGY | ACTIVATED CALCIUM-CHANNEL | CLASSIC KAPOSI-SARCOMA | DENTAL ENAMEL CELLS | INHERITED THROMBOCYTOPENIC DISORDER | T-CELL DEVELOPMENT | ELECTRON-DENSE CHAINS | STROMAL INTERACTION MOLECULE-1 | Stromal Interaction Molecule 1 | Muscle Hypotonia - genetics | Membrane Proteins - genetics | Humans | Autoimmune Diseases - immunology | Channelopathies - immunology | Neoplasm Proteins - immunology | Membrane Proteins - immunology | Severe Combined Immunodeficiency - immunology | Channelopathies - pathology | ORAI1 Protein | Autoimmune Diseases - genetics | Muscle Hypotonia - pathology | Severe Combined Immunodeficiency - genetics | Channelopathies - genetics | Calcium Channels - immunology | Severe Combined Immunodeficiency - pathology | Muscle Hypotonia - immunology | Neoplasm Proteins - genetics | Calcium Channels - genetics | Human | Proteins | Mutations | Teeth | Patients | Channels | Diseases | Defects
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 09/2017, Volume 27, Issue 9, pp. 861 - 872
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy,... 
CA2+ ENTRY | ACTIVATION | PROTEIN | Tubular aggregate myopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | York platelet syndrome | HYPERTROPHY | TUBULAR-AGGREGATE MYOPATHY | STIM1 | Stormorken syndrome | Exome sequencing | ORAI1
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
ABSTRACT Calcium (Ca2+) is a physiological key factor, and the precise modulation of free cytosolic Ca2+ levels regulates multiple cellular functions.... 
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
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 9, pp. 861 - 872
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2017, Volume 993, pp. 391 - 395
Since store-operated Ca2+ entry (SOCE) was proposed by Putney three decades ago (Putney. Cell Calcium 7: 1-12, 1986), its functional role and involvement in... 
Orai1 | SOCE | York platelet syndrome | STIM1 | SCID | Stormorken syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | CA2+ ENTRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | EMBRYONIC KIDNEY-CELLS | MYOPATHY | DEFICIENCY | CELL BIOLOGY | MUTATIONS | SECRETION | OSCILLATIONS | Mammals - metabolism | Animals | Calcium Channels - metabolism | Calcium - metabolism | Calcium Signaling - physiology | Humans
Journal Article