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
2007
Pseudomonas aeruginosa chronic colonization in cystic fibrosis patients
Murray TS, Egan M, Kazmierczak BI. Pseudomonas aeruginosa chronic colonization in cystic fibrosis patients. Current Opinion In Pediatrics 2007, 19: 83-88. PMID: 17224667, DOI: 10.1097/mop.0b013e3280123a5d.Peer-Reviewed Original ResearchConceptsCystic fibrosis patientsChronic colonizationAcute infectionFibrosis patientsCystic fibrosisP. aeruginosaChronic pulmonary colonizationChronic pulmonary diseaseCystic fibrosis airwayHost immune systemMucoid P. aeruginosaP. aeruginosa behaviorCystic fibrosis lungPulmonary diseaseClinical benefitChronic infectionP. aeruginosa pathogenesisLeading causePulmonary colonizationNew therapiesImmune systemAggressive usePotential therapeuticsInfectionPatients