2015
Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing
Jiang Y, Wu R, Chen C, You ZF, Luo X, Wang XP. Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing. Journal Of Neurogenetics 2015, 29: 188-194. PMID: 26814133, DOI: 10.3109/01677063.2015.1122787.Peer-Reviewed Original ResearchMeSH KeywordsCalcium-Binding ProteinsChloride ChannelsComputational BiologyDNA Mutational AnalysisExomeFamily HealthFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGTPase-Activating ProteinsGTP-Binding ProteinsHumansMaleMembrane GlycoproteinsMigraine without AuraMucinsMutationPolymorphism, Single NucleotideReceptors, G-Protein-CoupledUbiquitin-Conjugating EnzymesXedar ReceptorConceptsNon-synonymous mutationsRare non-synonymous mutationsExome sequencingNovel non-synonymous mutationsBioinformatics analysisX chromosomeMultiple genesCellular responsesWhole-exome sequencingSusceptibility gene mutationsCell membrane potentialARHGAP28MutationsSequencingProteinGBP2Membrane potentialEMR1Gene mutationsChemical factorsCLCNKBChromosomesGenesVasogenic theoryGenetic predisposition
2011
Genetic basis of Bartter syndrome in Korea
Lee B, Cho H, Lee H, Han K, Kang H, Ha I, Lee J, Park Y, Shin J, Lee D, Kim S, Choi Y, Cheong H. Genetic basis of Bartter syndrome in Korea. Nephrology Dialysis Transplantation 2011, 27: 1516-1521. PMID: 21865213, DOI: 10.1093/ndt/gfr475.Peer-Reviewed Original ResearchConceptsClassic BSCLCNKB mutationsBartter's syndromeGenotype-phenotype correlationMolecular diagnostic stepsClinically relevant classificationClinico-genetic featuresW610X mutationGitelman syndromeBS patientsCLCNKBClinical manifestationsNationwide cohortGenotype distributionNeonatal BSDiagnostic stepsPatientsClinical diagnosisSyndromeW610XKorean childrenMutant geneGenetic basisMutationsPhenotype
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