2017
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal Of Human Genetics 2017, 100: 978-984. PMID: 28575652, PMCID: PMC5473720, DOI: 10.1016/j.ajhg.2017.05.003.Peer-Reviewed Original ResearchConceptsYeast complementation studiesNew genetic determinantsCeramide synthesis pathwayKb inversionComplementation studiesRecessive Mendelian disordersCDNA sequencingGenome sequencingCeramide generationMendelian disordersSynthesis pathwayBase changesGenetic determinantsMutationsSequencingExome sequencingRetinoic acidProgressive symmetric erythrokeratodermaEpidermal functionMultiple probandsAlternative pathwayPathwayScaly skinSplicingExons
2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdolescentAdultAmino Acid SequenceAudiometryBlotting, NorthernBrainChildChild, PreschoolChromosomes, Human, Pair 7Contig MappingDNA, ComplementaryExonsFemaleGene DeletionGenes, RecessiveGenetic LinkageGenetic MarkersHearingHomozygoteHumansKidneyKidney CortexMaleMicroscopy, FluorescenceMitochondrial Proton-Translocating ATPasesModels, GeneticMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalPregnancy ProteinsProtein BiosynthesisProtein IsoformsProton PumpsProton-Translocating ATPasesRecombination, GeneticRNA SplicingSequence Homology, Amino AcidSuppressor Factors, ImmunologicTissue DistributionVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosesDistal nephronDistal renal tubular acidosisRecessive distal renal tubular acidosisRenal tubular acidosisGroup of disordersHuman kidney cortexRenal tubular acidosesNormal audiometryMetabolic acidosisTubular acidosisDifferent homozygous mutationsKidney-specific isoformKidney cortexPotassium balanceApical surfaceBone physiologyHomozygous mutationImmunofluorescence studiesMain organsProton-secreting cellsATPase pumpNorthern blot analysisAcidosisCalcium solubility