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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
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth... 
Muscular diseases | HEK293 cells | Calcium | Lymphocytes | Alleles | Miosis | Platelets | Genetic mutation | Embryos | Bleeding | Calcium signaling | Human genetics | human genetics | ZEBRAFISH | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | calcium signaling | MAST-CELLS | CRAC CHANNELS | CA2+ STORE DEPLETION | STROMAL INTERACTION MOLECULE-1 | CALCIUM | ENDOPLASMIC-RETICULUM | PROTEINS | PLASMA MEMBRANE JUNCTIONS | Humans | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | DNA Primers - genetics | Erythrocytes, Abnormal | Miosis - genetics | Base Sequence | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Calcium Channels - genetics | Child | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Mutagenesis, Site-Directed | Membrane Proteins - genetics | Zebrafish | Spleen - abnormalities | Mutation - genetics | Dyslexia - genetics | ORAI1 Protein | Sequence Analysis, DNA | Patch-Clamp Techniques | Animals | Migraine Disorders - genetics | Pedigree | Muscle Fatigue - genetics | Calcium Signaling - genetics | Calcium channels | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Cytoplasm | Proteins | Signal transduction | Cell growth | Homeostasis | Mutation | Gene expression | Index Medicus | Biological Sciences
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 898 - 904
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 12/2017, Volume 56, Issue 12, pp. 1406 - 1413
BackgroundGenodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten... 
KINDLER-SYNDROME | KINDLIN-1 | PROTEIN | MUTATION | VII COLLAGEN | SPECTRUM | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | IDENTIFICATION | DERMATOLOGY | Rare Diseases - genetics | 1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics | Endonucleases - genetics | Lipid Metabolism, Inborn Errors - genetics | Sjogren-Larsson Syndrome - genetics | Xeroderma Pigmentosum - genetics | Humans | Male | Mitochondrial Proteins - genetics | Ichthyosis Vulgaris - genetics | INDEL Mutation | Skin Diseases, Genetic - genetics | Exome | Epidermolysis Bullosa - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Female | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Periodontal Diseases - genetics | Protoporphyrinogen Oxidase - genetics | Porphyria, Variegate - genetics | Photosensitivity Disorders - genetics | Epidermolysis Bullosa Simplex - genetics | Flavoproteins - genetics | Membrane Proteins - genetics | Collagen Type VII - genetics | Aldehyde Oxidoreductases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Blister - genetics | Keratin-14 - genetics | Homozygote | Phenotype | Ichthyosis, Lamellar - genetics | Pedigree | Lipoxygenase - genetics | Consanguinity | Epidermolysis Bullosa Dystrophica - genetics | Muscular Diseases - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Genetic research | Skin | Nucleotide sequencing | Genes | DNA sequencing | Sebaceous glands | Nails | Glands | Teeth | Disorders | Homozygosity | Tissues | Follicles | Gene sequencing | Genodermatosis | Gene mapping | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 05/2014, Volume 35, Issue 5, pp. 556 - 564
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 285 - 293
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1002 - 1012
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 449 - 454
Journal Article
Disease Models & Mechanisms, ISSN 1754-8403, 2017, Volume 10, Issue 2, pp. 105 - 118
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of... 
FITM2 | Dystonia | Motor development | Hearing impairment | Lipid droplets | Drosophila | CELLS | LIPID DROPLET | ENDOPLASMIC-RETICULUM STRESS | PATHOLOGY | CELL BIOLOGY | FAT STORAGE | TRANSMEMBRANE PROTEIN-2 | METABOLISM | DISEASE | GENE-EXPRESSION | MORPHOLOGY | Ichthyosis - physiopathology | Deaf-Blind Disorders - blood | Humans | Male | Drosophila Proteins - metabolism | Motor Activity | Drosophila melanogaster - genetics | Gene Knockdown Techniques | Intellectual Disability - genetics | Dystonia - genetics | Intellectual Disability - blood | Young Adult | Adiposity | Ichthyosis - complications | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Membrane Proteins - metabolism | Lipid Droplets - metabolism | Child | Disease Models, Animal | Optic Atrophy - genetics | Sensory Receptor Cells - pathology | Membrane Proteins - genetics | Liver - metabolism | Gene Expression Regulation | Dystonia - physiopathology | Optic Atrophy - physiopathology | Dystonia - blood | Mutation - genetics | Whole Exome Sequencing | Deaf-Blind Disorders - physiopathology | Hearing Loss - genetics | Intellectual Disability - physiopathology | Homozygote | Locomotion | Animals | Pedigree | Audiometry, Pure-Tone | Drosophila Proteins - genetics | Deaf-Blind Disorders - genetics | Codon, Nonsense - genetics | Optic Atrophy - blood | Index Medicus | Dros
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 | Index Medicus
Journal Article
Journal Article