2015
Genetics of Cystic Fibrosis Clinical Implications
Egan ME. Genetics of Cystic Fibrosis Clinical Implications. Clinics In Chest Medicine 2015, 37: 9-16. PMID: 26857764, DOI: 10.1016/j.ccm.2015.11.002.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) proteinMutant cystic fibrosis transmembrane conductance regulator (CFTR) proteinRegulator proteinMutational classesModifier genesFunctional consequencesCFTR functionCFTR geneRecessive genetic disorderRespiratory phenotypeGenesSpecific CF genotypesAutosomal recessive genetic disorderGenetic disordersCFTR genotypeCystic fibrosisGenotypesGeneticsProteinCF genotypeMutationsPhenotypeNew therapiesVariants
2004
Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis Defects
Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glöckner-Pagel J, Canny S, Du K, Lukacs GL, Caplan MJ. Curcumin, a Major Constituent of Turmeric, Corrects Cystic Fibrosis Defects. Science 2004, 304: 600-602. PMID: 15105504, DOI: 10.1126/science.1093941.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalciumCalnexinCell LineCell MembraneCricetinaeCurcuminCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorElectrolytesEndoplasmic ReticulumGene TargetingGlycosylationHumansIntestinal MucosaIntestinal ObstructionIsoproterenolMembrane PotentialsMiceMice, KnockoutMutationNasal MucosaPolyethylene GlycolsProtein FoldingRectumTransfectionConceptsCystic fibrosis transmembrane conductance regulatorCFTR proteinDeltaF508 cystic fibrosis transmembrane conductance regulatorDeltaF508 CFTR proteinFibrosis transmembrane conductance regulatorTransmembrane conductance regulatorBaby hamster kidney cellsPlasma membraneComplete knockoutConductance regulatorHamster kidney cellsEndoplasmic reticulumCystic fibrosis defectCFTR geneKidney cellsCFTR miceGenesProteinMutationsCommon mutationsHomozygous expressionCurcumin treatmentFunctional appearanceWeight basisRegulator
1999
CFTR is functionally active in GnRH-expressing GT1–7 hypothalamic neurons
Weyler R, Yurko-Mauro K, Rubenstein R, Kollen W, Reenstra W, Altschuler S, Egan M, Mulberg A. CFTR is functionally active in GnRH-expressing GT1–7 hypothalamic neurons. American Journal Of Physiology 1999, 277: c563-c571. PMID: 10484343, DOI: 10.1152/ajpcell.1999.277.3.c563.Peer-Reviewed Original ResearchConceptsGT1-7 hypothalamic neuronsHypothalamic neuronsHypothalamic neuronal cell lineGonadotropin-releasing hormoneGT1-7 cellsNeuronal cell linePreincubation of cellsGnRH secretionGT1-7Cystic fibrosisCFTR geneWestern blottingCystic fibrosis transmembrane conductance regulator (CFTR) geneCell linesGnRHDiverse manifestationsHuman brainNeuronsCAMP analogTransmembrane conductance regulator geneSexual differentiationExon 10CFTR activity