CFTR

A gene on chromosome 7q31.2 that encodes cystic fibrosis transmembrane conductance regulator, a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes and many of which are involved in multidrug resistance. CFTR functions as a chloride channel and controls the regulation of other transport pathways.

Molecular pathology
CFTR mutations cause cystic fibrosis and bilateral aplasia of the vas deferens.

CFTR

Abbreviation for cystic fibrosis transmembrane regulator.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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References in periodicals archive

Adana Ilinde CFTR Gen Mutasyonlarinin Degerlendirilmesi.

Sanliurfa Ilindeki Ter Testi Sonucu Supheli Olan ve Klinik On Tanisi Kistik Fibrozis Olan Hasta Gruplarindaki CFTR Gen Mutasyonlarinin Yeni Nesil Dizileme Yontemi ile Incelenmesi/Examination of CFTR Gene Mutations in Patient Groups with Borderline Sweat Test and Clinical Preliminary Diagnosis of Cystic Fibrosis by Next-Generation Sequencing Method in Sanliurfa Province

The Clinical and Functional TRanslation of CFTR (CFTR2).

Early diagnosis of a case of infantile cystic fibrosis and review of literature in Taiwan

Recently published early phase 2 clinical trial results of two new-generation, small-molecule CFTR correctors, VX-445 and VX-659 in triple combination with tezacaftor and ivacaftor ('triple therapy'), show promising results in people with two copies of p.Phe508del.[12,13] None of these drugs are currently registered and licensed in SA, and until the cost (currently USD300 000 per annum) is substantially reduced, it is unlikely that medical schemes or the public health sector will fund these drugs in the near future.

Cystic fibrosis: What's new in South Africa in 2019

Sample measurements above a defined cutoff are then followed up by genetic analysis to determine the presence of specific mutations in the CFTR gene (34).

Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era

Immunofluorescence and confocal analysis on CFTR were performed as established by us in a previous work on CFBE cells [31].

Gap Junctions Are Involved in the Rescue of CFTR-Dependent Chloride Efflux by Amniotic Mesenchymal Stem Cells in Coculture with Cystic Fibrosis CFBE41o- Cells

Novel mutations 754delT and GGTGGCdel/TTG ins: The novel mutation 754delT was discovered in exon 13 of the CFTR gene.

CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations

Li et al., "Requirements for efficient correction of Deltaf508 CFTR revealed by analyses of evolved sequences," Cell, vol.

Biophysical Approaches Facilitate Computational Drug Discovery for ATP-Binding Cassette Proteins

Hartl, "CFTR: cystic fibrosis and beyond," European Respiratory Journal, vol.

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

It could be that a variant in another gene counteracts that specific mutation in the CFTR gene.

Genetic escape artists resist disease: 13 people found with harmful mutations but no symptoms

Cystic fibrosis remains a clinical diagnosis when evidence of at least one phenotypic feature of the disease (table 1) exists in the presence of laboratory evidence of a CFTR abnormality.

Helping patients with cystic fibrosis live longer

Genetic study for the evaluation of CFTR gene might be also helpful to evaluate the presence of latent cystic fibrosis.

A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis