2013
Epidemiological mechanisms of genetic resistance to kuru
Atkins KE, Townsend JP, Medlock J, Galvani AP. Epidemiological mechanisms of genetic resistance to kuru. Journal Of The Royal Society Interface 2013, 10: 20130331. PMID: 23740487, PMCID: PMC4043168, DOI: 10.1098/rsif.2013.0331.Peer-Reviewed Original ResearchConceptsTransmissible spongiform encephalopathiesGenotype frequency dataPopulation geneticsProtein geneGenetic resistanceEpidemiological mechanismsPrion protein geneMechanistic basisPrion proteinHost resistanceFatal neurodegenerative conditionHuman populationHuman resistancePapua New GuineaNew GuineaSpongiform encephalopathiesIncubation periodCodon 129Neurodegenerative conditionsIncidence dataReduced susceptibilityLong incubation periodKuruGenesMechanism
2009
Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis
Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Jüppner H. Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis. The Journal Of Clinical Endocrinology & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnimalsBase SequenceCalcinosisCarrier StateChlorocebus aethiopsCodonCOS CellsDNA PrimersExonsFibroblast Growth Factor-23Fibroblast Growth FactorsGlycosylationHomozygoteHumansHypophosphatemia, FamilialMolecular Sequence DataNeoplasmsPolymorphism, Single NucleotideProlineSerineConceptsExpression vectors encoding wild-typeSerine to prolineHomozygous mutationFraction of lysatesCOS-7 cellsGlycoprotein fractionDefective O-glycosylationMutant hormoneO-glycosylationProtein speciesExon 2Poor secretionCOS-7Western blot analysisGenetic causeCodon 129Hyperphosphatemic tumoral calcinosisMutationsWild-typeFGF23 mutationsAssociated with lackBlot analysisCarriers in vivoFibroblast growth factorLysates
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply