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PLoS ONE, 04/2013, Volume 8, Issue 4
Background Recently, a new subfamily of long-chain toxins with a Kunitz-type fold was found in scorpion venom glands. Functionally, these toxins inhibit... 
Channelopathy
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 | polymorphism | genetics | GI motility | voltage-gated sodium channel | Medical and Health Sciences | Medicin och hälsovetenskap
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
EMBO Journal, ISSN 0261-4189, 03/2005, Volume 24, Issue 5, pp. 1079 - 1091
CIC-7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H super(+)-ATPases in acidifying the resorption lacuna. In... 
Channelopathy | NCL/TCIRG1 | Transgenic rescue
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
Journal Article