Titlebook: Cystic Fibrosis; Diagnosis and Protoc Margarida D. Amaral,Karl Kunzelmann Book 2011 Springer Science+Business Media, LLC 2011 CF.CFTR expre

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Design of Gene Therapy Trials in CF Patientsnon-viral gene transfer agents. These have largely been single dose to either nose or lower airway and have been designed around molecular or bioelectrical outcome measures. Both transgene mRNA and partial correction of chloride secretion have been reported, although sodium hyperabsorption has not b

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Nasal Potential Difference Measurements to Assess CFTR Ion Channel Activityt and reflects in part CFTR function. The electrophysiologic abnormality in cystic fibrosis was first described 30 years ago and correlates with features of the CF phenotype. NPD measurement is an important in vivo research and diagnostic tool, and is used to assess the efficacy of new treatments su

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Measurement of Ion Transport Function in Rectal Biopsies an anion channel and is known to interact with a number of other cellular proteins involved in ion transport. To date more than 1,800 mutations are known, most of which result in various degrees of impaired transport function of the gene product. Due to the high inter-individual variability of dise

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Quantification of CFTR Transcriptsting the efficiency of various therapeutic approaches to CF, including gene therapy. Reverse transcription (RT) followed by quantitative polymerase chain reaction (qPCR) is at present the most sensitive method for transcript abundance measurement. Classical RNA-based methods require significant expr

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Approaches to Study CFTR Pre-mRNA Splicing Defects evaluation of their pathological effect is an important aspect both in the diagnostic field and in the study of basic regulatory mechanism. Efficient and correct splicing of CFTR relies on a complex process that includes recognition within the nascent transcripts of a series of different splicing r

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