Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis
| Autor: | Tanja Gonska, Marcus A. Mall, Karl Kunzelmann, Stephanie Hirtz |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Pulmonary and Respiratory Medicine
Epithelial sodium channel Pathology medicine.medical_specialty Patch-Clamp Techniques Cystic Fibrosis Biopsy Cystic Fibrosis Transmembrane Conductance Regulator Context (language use) Cystic fibrosis Pathogenesis Chlorides medicine Humans Pediatrics Perinatology and Child Health CFTR CF diagnosis Human colon Ion Transport biology Ussing chamber business.industry Rectum medicine.disease Epithelium Cystic fibrosis transmembrane conductance regulator medicine.anatomical_structure Pediatrics Perinatology and Child Health biology.protein business Function (biology) |
| Zdroj: | Journal of Cystic Fibrosis. 3:165-169 |
| ISSN: | 1569-1993 |
| DOI: | 10.1016/j.jcf.2004.05.035 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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