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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype
Journal Article
PLoS genetics, ISSN 1553-7404, 2009, Volume 5, Issue 9, p. e1000649
Journal Article
Nature genetics, ISSN 1546-1718, 2012, Volume 44, Issue 7, pp. 777 - 782
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Journal Article
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PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 5, p. e0177134
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Alcoholism, clinical and experimental research, ISSN 0145-6008, 2018, Volume 42, Issue 6, pp. 1034 - 1043
...). Given the high comorbidity between AUD and chronic pain, we hypothesized that genetic variation in PIP5K1C might contribute to susceptibility to AUD... 
Genetics | Alcohol | Pain | PIP5K1C | Translational Research | Amygdala - drug effects | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Thalamus - metabolism | Genetic Association Studies | Humans | Amygdala - metabolism | African Americans - genetics | Mice, Transgenic | Phosphotransferases (Alcohol Group Acceptor) - genetics | Signal Transduction - genetics | Thalamus - drug effects | Alcohol Drinking - genetics | Case-Control Studies | Ethanol - pharmacology | Animals | Pain - genetics | Signal Transduction - drug effects | Alcoholism - genetics | Mice | Polymorphism, Single Nucleotide | Receptors, Opioid, mu - genetics | Phosphotransferases (Alcohol Group Acceptor) - biosynthesis | Immunohistochemistry | Phosphates | Epigenetic inheritance | Comorbidity | Genes | Phospholipids | Drinking of alcoholic beverages | Chronic pain | Analysis | Opioids | Genetic research | Genetic engineering | Single nucleotide polymorphisms | Amygdala | Control methods | Single-nucleotide polymorphism | Alcohol use | Control | Rodents | Genetic analysis | Thalamus | Genotypes | Phenotypes | Narcotics | Opioid receptors | Transgenic mice | Exposure | Genetic diversity | Gene expression | Variance analysis | Genetic variance | Signaling | Alcoholic beverages | Polymorphism | alcohol | pain | translational research | genetics
Journal Article
Nature (London), ISSN 1476-4687, 2008, Volume 452, Issue 7190, pp. 997 - 1001
Journal Article