2012
SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP. SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule. Pediatric Nephrology 2012, 27: 2081-2090. PMID: 22907601, DOI: 10.1007/s00467-012-2219-4.Peer-Reviewed Original ResearchMeSH KeywordsAbsorptionAge FactorsBiomarkersChildDNA Mutational AnalysisElectrolytesFemaleGenetic Predisposition to DiseaseHearing Loss, SensorineuralHEK293 CellsHomozygoteHumansInfantIntellectual DisabilityKidney Tubules, DistalMaleMembrane PotentialsMicroscopy, ConfocalMutationPedigreePhenotypePotassium Channels, Inwardly RectifyingPredictive Value of TestsSeizuresTransfectionConceptsGitelman syndromeAutosomal recessive syndromeRenal featuresElectrolyte disordersHypokalemic alkalosisClinical presentationElectrolyte imbalanceMedical recordsSignificant worseningBiochemical lossSensorineural deafnessSalt reabsorptionConclusionsThese findingsRecessive syndromeSimilar findingsSyndromeAge 5Mental retardationUnreported familiesSeizuresChannel functionAgeAffected membersFirst yearTubules
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
2001
Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
Cruz D, Simon D, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill J, Lifton R. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans. Hypertension 2001, 37: 1458-1464. PMID: 11408395, DOI: 10.1161/01.hyp.37.6.1458.Peer-Reviewed Original ResearchConceptsLower blood pressureBlood pressureGitelman syndromeHypokalemic alkalosisReduces Blood PressureHigh salt intakeReduced blood pressureDiastolic blood pressureHigh blood pressureWild-type subjectsNa-Cl cotransporterFamily membersSalt intakeRenal saltClinical consequencesEpidemiological studiesGeneral populationHeterozygous childrenSyndromeHeterozygote subjectsGenetic testingLower ageSalt homeostasisSignificant predictorsHypertension
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