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Journal of Neuroscience, ISSN 0270-6474, 02/2004, Volume 24, Issue 7, pp. 1707 - 1718
Journal Article
The EMBO Journal, ISSN 0261-4189, 03/2005, Volume 24, Issue 5, pp. 1079 - 1091
ClC‐7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H + ‐ATPases in acidifying the resorption lacuna. In mice... 
TCIRG1 | channelopathy | NCL | transgenic rescue | SYNAPTIC VESICLES | NEURONAL CEROID-LIPOFUSCINOSES | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | AUTOSOMAL RECESSIVE OSTEOPETROSIS | NCL/TCIRG1 | A3 ISOFORM | VACUOLAR H+-ATPASE | PLASMA-MEMBRANE | CELL BIOLOGY | DENTS-DISEASE | OSTEOCLAST DIFFERENTIATION | SUBUNIT | Neurons - pathology | Humans | Nerve Degeneration - genetics | Chloride Channels - deficiency | Chloride Channels - genetics | Neuronal Ceroid-Lipofuscinoses - etiology | Lysosomal Storage Diseases, Nervous System - pathology | Retinal Degeneration - metabolism | Nerve Degeneration - metabolism | Neuronal Ceroid-Lipofuscinoses - pathology | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Mice, Mutant Strains | Lysosomal Storage Diseases, Nervous System - etiology | Lysosomes - pathology | Neurons - metabolism | Osteopetrosis - genetics | Gene Expression | Osteopetrosis - pathology | Retinal Degeneration - genetics | Cells, Cultured | Neuronal Ceroid-Lipofuscinoses - metabolism | Mice, Transgenic | Osteopetrosis - metabolism | Hippocampus - pathology | Lysosomal Storage Diseases, Nervous System - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Mitochondrial Proton-Translocating ATPases - metabolism | Nerve Degeneration - pathology | Mice, Knockout | Chloride Channels - metabolism | Hippocampus - metabolism | Phenotype | Animals | Mice | Nerve Degeneration - etiology | Retinal Degeneration - pathology | Hydrogen-Ion Concentration | Index Medicus
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 12/2008, Volume 28, Issue 49, pp. 13341 - 13353
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2015, Volume 114, Issue 3, pp. 474 - 482
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2013, Volume 110, Issue 11, pp. 4291 - 4296
We describe a mutation (E299V) in KCNJ2, the gene that encodes the strong inward rectifier K⁺ channel protein (Kir2.1), in an 11-y-old boy. The unique short QT... 
Electric potential | Action potentials | Musical intervals | HEK293 cells | Atrial fibrillation | Cell membranes | Electric current | Genetic mutation | Dysrhythmias | Modeling | Computer models | Genetics | Channelopathies | Ion channels | Cellular electrophysiology | RECTIFICATION | computer models | genetics | GENE | KIR2.1 K+ CHANNEL | MULTIDISCIPLINARY SCIENCES | channelopathies | SITES | cellular electrophysiology | CHLOROQUINE | ion channels | REGION | Humans | Protein Multimerization | Male | Heart Conduction System - abnormalities | Mutation, Missense | Atrial Fibrillation - physiopathology | Arrhythmias, Cardiac - physiopathology | Arrhythmias, Cardiac - pathology | Heart Defects, Congenital - genetics | Computer Simulation | Myocardium - metabolism | HEK293 Cells | Muscle Proteins - metabolism | Child | Arrhythmias, Cardiac - genetics | Arrhythmias, Cardiac - metabolism | Heart Conduction System - pathology | Atrial Fibrillation - pathology | Heart Conduction System - metabolism | Heart Defects, Congenital - pathology | Myocardium - pathology | Potassium Channels, Inwardly Rectifying - genetics | Atrial Fibrillation - genetics | Muscle Proteins - genetics | Atrial Fibrillation - metabolism | Heart Conduction System - physiopathology | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Potassium Channels, Inwardly Rectifying - metabolism | Amino Acid Substitution | Genetic disorders | Gene mutations | Arrhythmia | Physiological aspects | Development and progression | Genetic aspects | Research | Heart diseases | Proteins | Cardiac arrhythmia | Genotype & phenotype | Mutation | Computer simulation | Gene expression | Index Medicus | Biological Sciences
Journal Article
Circulation Research, ISSN 0009-7330, 10/2011, Volume 109, Issue 9, pp. 1055 - 1066
Journal Article
Epilepsia, ISSN 0013-9580, 2010, Volume 51, Issue 9, pp. 1707 - 1713
P>Purpose: KCNJ10 encodes subunits of inward rectifying potassium (Kir) channel Kir4.1 found predominantly in glial cells within the brain. Genetic... 
Potassium buffering | Glutamate clearance | Seizure | Astrocyte | Kir4.1 | Kir4 | KCNJ10 | TEMPORAL-LOBE EPILEPSY | RECTIFYING K+ CHANNEL | GLIAL-CELLS | CORTICAL ASTROCYTES | LOCUS | CLINICAL NEUROLOGY | HIPPOCAMPUS | GENE | KIR4.1 SUBUNIT | EXPRESSION | Potassium - metabolism | Membrane Potentials - genetics | Seizures - genetics | Channelopathies - physiopathology | Humans | Potassium Channels - physiology | Seizures - metabolism | Channelopathies - metabolism | Hippocampus - drug effects | Neuroglia - drug effects | Seizures - physiopathology | Mice, Inbred DBA | Membrane Potentials - drug effects | Genetic Predisposition to Disease - genetics | Mice, Inbred C57BL | Potassium Channels, Inwardly Rectifying - genetics | Barium - pharmacology | Membrane Potentials - physiology | Potassium Channels - drug effects | Potassium Channels - genetics | Hippocampus - metabolism | Astrocytes - physiology | Channelopathies - genetics | Patch-Clamp Techniques | Animals | Amino Acid Substitution - physiology | Polymorphism, Single Nucleotide - genetics | Amino Acid Substitution - genetics | Neuroglia - metabolism | Glutamic Acid - metabolism | Mice | Hippocampus - physiology | Potassium Channels, Inwardly Rectifying - metabolism | Astrocytes - metabolism | Physiological aspects | Biological apparatus and supplies | Amino acids | Seizures (Medicine) | Potassium channels | Glutamate | Index Medicus | seizure | potassium buffering | astrocyte | glutamate clearance
Journal Article
Gastroenterology, ISSN 0016-5085, 06/2014, Volume 146, Issue 7, pp. 1659 - 1668
encodes the α-subunit of the voltage-gated sodium channel Na 1.5. Many patients with cardiac arrhythmias caused by mutations in also have symptoms of irritable... 
GI Motility | Voltage-Gated Sodium Channel | Genetics | Polymorphism | Constipation - genetics | Prevalence | Prospective Studies | Channelopathies - physiopathology | Channelopathies - epidemiology | Diarrhea - physiopathology | Humans | Middle Aged | Constipation - metabolism | Gastrointestinal Motility - drug effects | Diarrhea - epidemiology | Male | NAV1.5 Voltage-Gated Sodium Channel - metabolism | Channelopathies - metabolism | Mutation, Missense | Case-Control Studies | Young Adult | Channelopathies - diagnosis | Transfection | DNA Mutational Analysis | Irritable Bowel Syndrome - diagnosis | NAV1.5 Voltage-Gated Sodium Channel - drug effects | HEK293 Cells | Voltage-Gated Sodium Channel Blockers - therapeutic use | Adult | Female | Irritable Bowel Syndrome - epidemiology | NAV1.5 Voltage-Gated Sodium Channel - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Irritable Bowel Syndrome - metabolism | Risk Factors | Constipation - epidemiology | Gastrointestinal Motility - genetics | Irritable Bowel Syndrome - drug therapy | Constipation - physiopathology | Irritable Bowel Syndrome - physiopathology | Irritable Bowel Syndrome - genetics | Channelopathies - genetics | Phenotype | Channelopathies - drug therapy | Membrane Potentials | Diarrhea - genetics | Adolescent | Diarrhea - metabolism | Aged | Index Medicus | Abridged Index Medicus | polymorphism | genetics | GI motility | voltage-gated sodium channel | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
Journal Article
Journal Article
Experimental Neurology, ISSN 0014-4886, 09/2016, Volume 283, Issue Pt A, pp. 375 - 395
Inherited sensory neuropathies are caused by mutations in genes affecting either primary afferent neurons, or the Schwann cells that myelinate them. Using... 
Myelin protein zero | Sodium channels | Spinal cord | TRPA1 | Proprioception | Schwann cells | Charcot Marie Tooth | Pain channelopathy | Neuropathy | TRPV1 | Adipocytes | Gene expression | Pain | Inherited peripheral neuropathy | Transcriptomics | RNA-Seq | HSAN | Glia | Dorsal root ganglion | Sciatic nerve | MENKES DISEASE | CANDIDATE GENE | SCHWANN-CELLS | HUMAN PAIN | MUTATIONS | TRPV4 CAUSE | CONGENITAL INSENSITIVITY | LYSOPHOSPHATIDIC ACID LPA | NEUROSCIENCES | LYSYL OXIDASE ACTIVITY | Sciatic Nerve - pathology | Humans | Transcriptome | Multienzyme Complexes - metabolism | Rats | Mixed Function Oxygenases - metabolism | Schwann Cells - pathology | Chromosome Mapping | Gene Expression Profiling | Schwann Cells - metabolism | Myelin Proteins - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Nerve Tissue Proteins - metabolism | Sciatic Nerve - metabolism | Animals | Gene Expression - physiology | Ganglia, Spinal - pathology | Peripheral Nervous System Diseases - pathology | In Vitro Techniques | Myelin Proteins - metabolism | Peripheral Nervous System Diseases - genetics | Organ Culture Techniques | Ganglia, Spinal - metabolism | RNA sequencing | Genetic research | Gene mutations | Analysis | Genes | Anopheles | RNA | Neurons | Index Medicus | Schwann Cells | pain channelopathy | sodium channels | neurofilament | dorsal root ganglion | myelin protein zero | transcriptomics | neuropathy | spinal cord | peptidyl-alpha-amidating monooxygenase | adipocytes | gene expression | sciatic nerve | peripheral myelin protein 22
Journal Article
Current molecular medicine, 2015, Volume 15, Issue 2, p. 138
Journal Article
Journal Article
Cardiovascular Research, ISSN 0008-6363, 04/2017, Volume 113, Issue 5, pp. 531 - 541
Journal Article