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Measurement of ion transport function in rectal biopsies.
Methods Mol Biol 2011; 741:87-107MM

Abstract

Cystic fibrosis (CF) is caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR functions as 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 disease onset and progression, CF still is a diagnostic challenge. Implemented almost 20 years ago, the measurement of electrolyte transport function of rectal biopsies is a useful ex vivo tool to diagnose CF. In this chapter we will review the different approaches to perform ion transport measurements and try to highlight the advantages and limitations of these techniques.

Authors+Show Affiliations

Pharmacy, University Medical Center Freiburg, D-79106, Freiburg, Germany. martin.hug@uniklinik-freiburg.deNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21594780

Citation

Hug, Martin J., et al. "Measurement of Ion Transport Function in Rectal Biopsies." Methods in Molecular Biology (Clifton, N.J.), vol. 741, 2011, pp. 87-107.
Hug MJ, Derichs N, Bronsveld I, et al. Measurement of ion transport function in rectal biopsies. Methods Mol Biol. 2011;741:87-107.
Hug, M. J., Derichs, N., Bronsveld, I., & Clancy, J. P. (2011). Measurement of ion transport function in rectal biopsies. Methods in Molecular Biology (Clifton, N.J.), 741, pp. 87-107. doi:10.1007/978-1-61779-117-8_7.
Hug MJ, et al. Measurement of Ion Transport Function in Rectal Biopsies. Methods Mol Biol. 2011;741:87-107. PubMed PMID: 21594780.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Measurement of ion transport function in rectal biopsies. AU - Hug,Martin J, AU - Derichs,Nico, AU - Bronsveld,Inez, AU - Clancy,Jean Paul, PY - 2011/5/20/entrez PY - 2011/5/20/pubmed PY - 2011/9/2/medline SP - 87 EP - 107 JF - Methods in molecular biology (Clifton, N.J.) JO - Methods Mol. Biol. VL - 741 N2 - Cystic fibrosis (CF) is caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR functions as 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 disease onset and progression, CF still is a diagnostic challenge. Implemented almost 20 years ago, the measurement of electrolyte transport function of rectal biopsies is a useful ex vivo tool to diagnose CF. In this chapter we will review the different approaches to perform ion transport measurements and try to highlight the advantages and limitations of these techniques. SN - 1940-6029 UR - https://www.unboundmedicine.com/medline/citation/21594780/Measurement_of_ion_transport_function_in_rectal_biopsies_ L2 - https://dx.doi.org/10.1007/978-1-61779-117-8_7 DB - PRIME DP - Unbound Medicine ER -