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
2008
Rectal Potential Difference and the Functional Expression of CFTR in the Gastrointestinal Epithelia in Cystic Fibrosis Mouse Models
Weiner SA, Caputo C, Bruscia E, Ferreira EC, Price JE, Krause DS, Egan ME. Rectal Potential Difference and the Functional Expression of CFTR in the Gastrointestinal Epithelia in Cystic Fibrosis Mouse Models. Pediatric Research 2008, 63: 73-78. PMID: 18043508, DOI: 10.1203/pdr.0b013e31815b4bc6.Peer-Reviewed Original ResearchConceptsRectal potential differenceMouse modelCF mouse modelsCystic fibrosisFibrosis mouse modelDifferent mouse modelsCystic fibrosis mouse modelUssing chamber methodEffects of interventionsAutosomal recessive diseasePharmacologic interventionsRespiratory epitheliumElectrophysiologic phenotypeGastrointestinal epitheliumCF transmembrane conductance regulator (CFTR) geneRecessive diseaseVivo methodsVivo assaysVivo dataCFTR functionTransmembrane conductance regulator geneReliable assayEpitheliumInterventionCFTR expression