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c- Src and its role in cystic fibrosis
(Elsevier, 2016)
Abstract:
Cystic fibrosis (CF) is a lethal inherited disease produced by mutations in the gene encoding the CFTR
chloride channel. Loss of function in the CFTR gene is associated with a not much noticed increased
expression ...
Measurement of cystic fibrosis transmembrane conductance regulator activity using fluorescence spectrophotometry
(Elsevier, 2011)
Abstract: Cystic fibrosis (CF) is a frequent autosomal recessive disease caused by mutations that impair the CF
transmembrane conductance regulator (CFTR) protein function. CFTR is a chloride channel activated by
cyclic ...
NLR family pyrin domain containing 3 (NLRP3) and caspase 1 (CASP1) modulation by intracellular Cl– concentration
(Wiley-Blackwell, 2021)
Abstract:
The impairment of the cystic fibrosis transmembrane conductance regulator (CFTR) activity induces intracellular chloride (Cl–
) accumulation. The anion Cl–
, acting as a second
messenger, stimulates the ...
Dictamen Preliminar de Evaluación de Tecnología Sanitaria N° 020-DETS-IETSI-2022. Eficacia y seguridad de ataluren en pacientes con diagnóstico de distrofia muscular de Duchenne portadores de una mutación sin sentido en el gen de distrofina (actualización)
(Seguro Social de Salud (EsSalud), 2022-04)
En este documento se plasma la evaluación de la eficacia y seguridad del uso del producto farmacéutico atauren en distrofia muscular de Duchenne portadores de una mutación sin sentido en el gen de distrofina; cuyos resultados ...
CFTR modulates RPS27 gene expression using chloride anion as signaling effector
(Elsevier, 2017)
Abstract:
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, ...
Diagnóstico biomolecular de anomalías genéticas asociadas a fibrosis quística usando indicadores mutagénicos
(Universidad Nacional de Tumbes, 2015)
Pacientes diagnosticados con Fibrosis Quística provenientes del Instituto de Salud del Niño del Ministerio de Salud del Perú y del Hospital IV E. Rebagliatti Martins (Seguridad Social), fueron evaluados durante el segundo ...