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CFTR activity and mitochondrial function
(Elsevier B.V., 2013)
Abstract: Cystic Fibrosis(CF)isafrequentandlethalautosomalrecessivedisease,causedbymutationsinthe
gene encodingtheCysticFibrosisTransmembraneConductanceRegulator(CFTR).Beforethediscovery
of the CFTR gene, severalhypoth ...
The expression of the mitochondrial encoded gene ND4 is downregulated in cystic fibrosis
(Elsevier, 2007)
Abstract: Cystic fibrosis (CF) is a disease produced by mutations in the CFTR channel. We have previously reported that the CFTR chloride transport activity regulates the differential expression of several genes, including ...
An image analysis method to quantify CFTR subcellular localization
(Academic Press Ltd-elsevier Science Ltd, 2014-02)
Aberrant protein subcellular localization caused by mutation is a prominent feature of many human diseases. In Cystic Fibrosis (CF), a recessive lethal disorder that results from dysfunction of the Cystic Fibrosis Transmembrane ...
CFTR modulates RPS27 gene expression using chloride anion as signaling effector
(Elsevier Science Inc, 2017-09)
In Cystic Fibrosis (CF), the impairment of the CFTR channel activity leads to a variety of alterations, including differential gene expression. However, the CFTR signaling mechanisms remain unclear. Recently, culturing ...
The mitochondrial complex I activity is reduced in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function
(Dominik Hartl, University of Tübingen, Germany, 2012)
Abstract: Cystic fibrosis (CF) is a frequent and lethal autosomal recessive disease. It results from different possible mutations in the CFTR gene, which encodes the CFTR chloride channel. We have previously studied the ...
XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are ...
XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are ...
Epiregulin (EREG) is upregulated through an IL-1β autocrine loop in Caco-2 epithelial cells with reduced CFTR function
(Wiley, 2018)
Abstract: CFTR is a cAMP-regulated chloride channel, whose mutations produce cystic fibrosis. The impairment of CFTR activity increases the intracellular Cl- concentration, which in turn produces an increased interleukin-1β ...