WebCFTR gene: OMIM #602421: Ensembl Gene ID : ENSG00000001626: Chromosomal sequence : NC_000007.14 (excepted for position g.117559479: A is the wild type nucleotide, G a variant nucleotide): … WebRATIONALE: Cystic fibrosis transmembrane conductance regulator (CFTR) protein is a chloride channel regulating fluid homeostasis at epithelial surfaces. Its loss of function …
CFTR France - Inserm
WebBackground: As Cystic Fibrosis (CF) treatments drastically improved in recent years, tools to assess their efficiency need to be properly evaluated, especially cross-sectional imaging techniques. High-resolution computed tomography (HRCT) scan response to combined lumacaftor- ivacaftor therapy (Orkambi®) in patients with homozygous for F508del CFTR … WebBefore using CFTR-France, you must please agree to the following statements. The information provided by CFTR -France is for educational purposes only. The data have … CFTR-France database : CFTR-France database records. 21340 variants (948 … The CFTR-France database has retrieved 948 VARIANTS, which are displayed … The CFTR-France database has retrieved 99 DELETIONS, which are displayed … CFTR gene and protein; CFTR variations and classification; Download; Contact; … The CFTR-France was created in 2008 at Montpellier University by Mireille … The CFTR-France Team is the research team that developed CFTR-France and … Login Password . Go to CFTR variations and classification; Download; Contact; Contributors. Login; … CFTR gene and protein; CFTR variations and classification; Download; Contact; … ciner university
About CFTR-France - Inserm
WebFinalmente quedó demostrada la primera de las hipótesis, que la función de CFTR era la de canal de Cl-. VI-2.2. La proteína CFTR, una proteína multifuncional. Los descubridores del gen CFTR gene lo denominaron "regulador de la conductancia transmembrana" (Cystic Fibrosis Transmembrane conductance Regulator). WebMutations in the gene encoding the chloride ion channel CFTR (cystic fibrosis transmembrane conductance regulator) result in cystic fibrosis (CF), the most common … WebCFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al ., 2011. diabolically yours