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CFTR in K562 human leukemic cells
(American Physiological Society, 2003-08)
In this study, the expression and functional characterization of CFTR (cystic fibrosis transmembrane regulator) was determined in K562 chronic human leukemia cells. Expression of the CFTR gene product was determined by ...
Funciones de los canales iónicos CFTR y ENAC en la fibrosis quísticaCFTR and ENaC functions in cystic fibrosis
(Medicina (Buenos Aires), 2014-04)
La fibrosis quística se debe a la ausencia o defecto del canal transmembrana regulador de la fibrosis quística (CFTR), un canal de cloruro codificado en el gen cftr que juega un papel clave en la homeostasis del agua e ...
Consequences of cystic fibrosis transmembrane regulator mutations on inflammatory cells
(OAT, 2016-08)
Recent studies in cystic fibrosis (CF) transmembrane regulator (CFTR) mutations and function have shed light on its involvement in disease progression. The extent of cell and tissue distribution of CFTR facilitates systemic ...
Targeted next generation sequencing for CFTR gene analysis in a Brazilian cohort of cystic fibrosis patients
(Fiocruz/Instituto de Tecnologia em Imunobiológicos, 2018)
Impairment of CFTR activity in cultured epithelial cells upregulates the expression and activity of LDH resulting in lactic acid hypersecretion
(Springer, 2019)
Asbtract: Mutations in the gene encoding the CFTR chloride channel produce cystic fibrosis (CF). CF patients are more susceptible to bacterial infections in lungs. The most accepted hypothesis sustains that a reduction in ...
Functional relationship between CFTR and RAC3 expression for maintaining cancer cell stemness in human colorectal cancer
(Springer, 2021-06)
Purpose: CFTR mutations not only cause cystic fibrosis, but also increase the risk of colorectal cancer. A putative role of CFTR in colorectal cancer patients without cystic fibrosis has so far, however, not been investigated. ...
CFTR activity and mitochondrial function
(Elsevier Science, 2013-01)
Cystic Fibrosis (CF) is a frequent and lethal autosomal recessive disease, caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Before the discovery of the CFTR gene, ...
CFTR impairment upregulates c-Src activity through IL-1β autocrine signaling
(Elsevier, 2017)
Abstract: Cystic Fibrosis (CF) is a disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Previously, we found several genes showing a differential expression in CFDE cells ...
Secuenciación del gen CFTR en un grupo de pacientes chilenos con fibrosis quística
(2014)
Introduction: Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations of the CFTR gene, in which over 1,900 different mutations have been identified. In Chile, the diagnosis panel with the 36 ...