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Journal Article
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
Nature, ISSN 0028-0836, 10/2012, Volume 490, Issue 7418, pp. 112 - 115
Journal Article
Neuron, ISSN 0896-6273, 08/2012, Volume 75, Issue 4, pp. 618 - 632
Mitochondrial abnormalities have been documented in Alzheimer’s disease and related neurodegenerative disorders, but the causal relationship between... 
ALZHEIMERS-DISEASE BRAIN | DOMINANT OPTIC ATROPHY | MITOCHONDRIAL-FUNCTION | MOUSE MODEL | LIGHT-CHAIN | FRONTOTEMPORAL DEMENTIA | AXONAL-TRANSPORT | NEUROSCIENCES | DYNAMIN-RELATED PROTEIN | PHOSPHORYLATION SITES | TRANSGENIC MICE | Neurons - pathology | Microtubule-Associated Proteins - genetics | Tauopathies - genetics | Cytoskeletal Proteins - genetics | Gelsolin - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Actins - metabolism | Tauopathies - pathology | Cytoplasm - metabolism | MicroRNAs - metabolism | Green Fluorescent Proteins - genetics | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | GTP-Binding Proteins - genetics | Nerve Degeneration - metabolism | Neurons - ultrastructure | tau Proteins - genetics | Cell Death - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | ATP Synthetase Complexes - metabolism | Cell Cycle Proteins - genetics | Tauopathies - complications | Cytoskeletal Proteins - metabolism | Myosins - metabolism | Cytoplasm - genetics | RNA Interference - physiology | Disease Models, Animal | In Situ Nick-End Labeling | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | Cell Cycle Proteins - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Mutation - genetics | Animals | GTP Phosphohydrolases - metabolism | Analysis of Variance | GTP Phosphohydrolases - genetics | Gelsolin - genetics | Mice | Drosophila Proteins - genetics | Nerve Degeneration - etiology | Voltage-Dependent Anion Channels - metabolism | GTP-Binding Proteins - metabolism | Nervous system diseases | Actin | Neurons | Utrophin | Myosin | Mitochondrial DNA | Alzheimer's disease | Proteins | Phosphorylation | Mitochondria | Neurotoxicity | Insects | Microscopy | Neurodegeneration | Pathogenesis | Morphology | Mutation | Defects | Index Medicus | Neurodegenerative diseases | Tau protein | Cell death | Elongation
Journal Article
The New Phytologist, ISSN 0028-646X, 4/2010, Volume 186, Issue 1, pp. 102 - 112
Journal Article
Oncogene, ISSN 0950-9232, 11/2018, Volume 37, Issue 48, pp. 6243 - 6258
Journal Article
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 129 - 133
The GGGGCC (G(4)C(2)) repeat expansion in a noncoding region of C9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral... 
C9FTD/ALS | MULTIDISCIPLINARY SCIENCES | NUCLEAR-PORE COMPLEX | FRONTOTEMPORAL DEMENTIA | DISEASE | MESSENGER-RNA EXPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | STEM-CELL MODELS | Protein Biosynthesis | Salivary Glands - pathology | DNA Repeat Expansion - genetics | Humans | Male | Neurons - cytology | Drosophila melanogaster - genetics | Salivary Glands - cytology | RNA - genetics | Drosophila melanogaster - metabolism | RNA Transport - genetics | Female | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Muscles - metabolism | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Eye - metabolism | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Nuclear Pore - pathology | Drosophila melanogaster - cytology | Nuclear Pore - genetics | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Animals | HeLa Cells | Salivary Glands - metabolism | Muscles - cytology | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Insects | Toxicity | Pathogenesis | Amyotrophic lateral sclerosis | Chromosomes | Dementia | Index Medicus | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
Journal Article
1978, ISBN 0713126418, viii, 142
Book
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006936 - e1006936
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Animal genetic engineering | Chromatin | Genetic aspects | Congenital heart disease | Genetic disorders | Heart diseases | Bardet-Biedl syndrome | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Cilia | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Position (location) | Cytoplasm | Index Medicus | Coronary heart disease
Journal Article
Oncogene, ISSN 0950-9232, 11/2012, Volume 31, Issue 46, pp. 4868 - 4877
We report that in breast cancer cells, tyrosine phosphorylation of the estradiol receptor alpha (ERalpha) by Src regulates cytoplasmic localization of the... 
Estradiol receptor | breast cancer | tyrosine phosphorylation | cell cycle | nuclear export | Src | HUMAN ESTROGEN-RECEPTOR | ACTIVATION | estradiol receptor | PROTEIN-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALPHA | DNA-SYNTHESIS | FORKHEAD TRANSCRIPTION FACTORS | CELL BIOLOGY | IN-VITRO | ONCOLOGY | GENETICS & HEREDITY | PROGESTERONE-RECEPTOR | MCF-7 CELLS | BINDING | NIH 3T3 Cells | Humans | Cell Nucleus - metabolism | MCF-7 Cells | Forkhead Transcription Factors - metabolism | Cell Cycle Checkpoints - genetics | Transcription, Genetic | Cytoplasm - genetics | Cell Growth Processes - genetics | Estradiol - metabolism | Cell Cycle Checkpoints - physiology | Receptors, Cytoplasmic and Nuclear - genetics | Tyrosine - metabolism | Breast Neoplasms - genetics | Estrogen Receptor alpha - genetics | Cell Nucleus - genetics | Cyclin D1 - genetics | Cell Line, Tumor | Karyopherins - genetics | Mice | Mutation | src-Family Kinases - genetics | COS Cells | Receptors, Cytoplasmic and Nuclear - metabolism | Cyclin D1 - metabolism | Phosphorylation | ran GTP-Binding Protein - genetics | Cercopithecus aethiops | Cell Growth Processes - physiology | Cytoplasm - metabolism | Phosphatidylinositol 3-Kinases - metabolism | Breast Neoplasms - metabolism | Breast Neoplasms - enzymology | src-Family Kinases - metabolism | Estrogen Receptor alpha - metabolism | Female | Active Transport, Cell Nucleus | Cell Line | Promoter Regions, Genetic | Phenylalanine - metabolism | ran GTP-Binding Protein - metabolism | Forkhead Transcription Factors - genetics | S Phase - genetics | Phosphatidylinositol 3-Kinases - genetics | Animals | Karyopherins - metabolism | Breast Neoplasms - pathology | Phenylalanine - genetics | Tyrosine - genetics | Development and progression | Breast cancer | Research | Estradiol | Health aspects | Cell cycle | Amino acids | Gene expression | Index Medicus | Tyrosine | Chromatin | Transformation | Immunoprecipitation | Phenylalanine | Hormones | Src protein | Nuclear transport | Promoters | 1-Phosphatidylinositol 3-kinase | Mimicry | DNA biosynthesis | Traps | cyclin D1
Journal Article