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Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis.
J Cyst Fibros 2004; 3 Suppl 2:165-9JC

Abstract

The Ussing chamber technique has contributed significantly to our understanding of the role of ion transport in the pathogenesis of human diseases like cystic fibrosis (CF). Here, we summarize protocols developed to study the Cl- channel function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in rectal biopsies from normal individuals and CF patients. These protocols can be applied to study the function and pharmacological modulation of wild-type and mutant CFTR in the context of the native epithelium. Together with sweat testing and genetic analyses, these functional measurements may aid in establishing a diagnosis of CF.

Authors+Show Affiliations

Department of Pediatrics III, Pediatric Pulmonology and Infectious Diseases, University of Heidelberg, lm Neuenheimer Feld 153, Heidelberg D-69120, Germany. mmall@med.unc.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15463952

Citation

Mall, Marcus, et al. "Assessment of CFTR Function in Rectal Biopsies for the Diagnosis of Cystic Fibrosis." Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, vol. 3 Suppl 2, 2004, pp. 165-9.
Mall M, Hirtz S, Gonska T, et al. Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. J Cyst Fibros. 2004;3 Suppl 2:165-9.
Mall, M., Hirtz, S., Gonska, T., & Kunzelmann, K. (2004). Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 3 Suppl 2, pp. 165-9.
Mall M, et al. Assessment of CFTR Function in Rectal Biopsies for the Diagnosis of Cystic Fibrosis. J Cyst Fibros. 2004;3 Suppl 2:165-9. PubMed PMID: 15463952.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. AU - Mall,Marcus, AU - Hirtz,Stephanie, AU - Gonska,Tanja, AU - Kunzelmann,Karl, PY - 2004/10/7/pubmed PY - 2004/12/16/medline PY - 2004/10/7/entrez SP - 165 EP - 9 JF - Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society JO - J. Cyst. Fibros. VL - 3 Suppl 2 N2 - The Ussing chamber technique has contributed significantly to our understanding of the role of ion transport in the pathogenesis of human diseases like cystic fibrosis (CF). Here, we summarize protocols developed to study the Cl- channel function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in rectal biopsies from normal individuals and CF patients. These protocols can be applied to study the function and pharmacological modulation of wild-type and mutant CFTR in the context of the native epithelium. Together with sweat testing and genetic analyses, these functional measurements may aid in establishing a diagnosis of CF. SN - 1569-1993 UR - https://www.unboundmedicine.com/medline/citation/15463952/Assessment_of_CFTR_function_in_rectal_biopsies_for_the_diagnosis_of_cystic_fibrosis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S156919930400089X DB - PRIME DP - Unbound Medicine ER -