1999
Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome
Kunchaparty S, Palcso M, Berkman J, Velázquez H, Desir G, Bernstein P, Reilly R, Ellison D. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome. American Journal Of Physiology 1999, 277: f643-f649. PMID: 10516289, DOI: 10.1152/ajprenal.1999.277.4.f643.Peer-Reviewed Original ResearchConceptsWild-type cloneTransport proteinsWild-type proteinWild-type geneUnglycosylated proteinProtein processingNa-Cl cotransporterUnglycosylated formEndoplasmic reticulumMutant clonesFunctional expressionDisease mutationsDefective processingXenopus oocytesProteinClonesThiazide-sensitive Na-Cl cotransporterSodium uptakeMutationsOocytesMembrane stainingAutosomal recessive disorderWestern blot
1997
Genomic Localization of the Human Gene for KCNA10, a cGMP-Activated K Channel
Orias M, Bray-Ward P, Curran M, Keating M, Desir G. Genomic Localization of the Human Gene for KCNA10, a cGMP-Activated K Channel. Genomics 1997, 42: 33-37. PMID: 9177773, DOI: 10.1006/geno.1997.4712.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 1Cloning, MolecularCyclic GMPDNA PrimersHumansIn Situ Hybridization, FluorescenceMicrosatellite RepeatsMolecular Sequence DataPolymerase Chain ReactionPotassium ChannelsPotassium Channels, Voltage-GatedShaker Superfamily of Potassium ChannelsConceptsHuman genesK channel genesCandidate gene analysisGenomic localizationMicrosatellite lociCellular functionsGenetic intervalYAC clonesChromosome 1Channel genesFiner mappingGenesKCNA10Gene analysisSitu hybridizationK channelsCritical rolePotassium channelsIntracellular cGMPP13.1KCNA3CGMPImportant componentLociClones