CFTR
HGNC:1884 · 50 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CFTR | “Analyzing fourteen deleterious nsSNPs of CFTR as promising genetic markers for cancer prognosis.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “However, quantification of CFTR (cystic fibrosis transmembrane conductance regulator), the mutated protein in CF, plays a key role in early screening and tracking therapy effectiveness.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Comparative Efficacy of CFTR Modulators: A Network Meta-analysis.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Clinical Outcomes in Patients with Cystic Fibrosis Receiving CFTR Modulators: A Comparison of Childhood Versus Adolescent Initiation.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Conversely, three rare markers: CYP2A6*2, NAT2*14, and rs115545701 in CFTR, were identified at low-frequency levels (MAF = 0.021, 0.011, 0.005, respectively).” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “BACKGROUND: The missense CFTR variant I1234V (c.3700A > G) produces class II protein-folding defects and is prevalent in the Middle East, yet clinical evidence for elexacaftor/tezacaftor/ivacaftor (ETI) in homozygous carriers is sparse.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “DepMap analysis revealed the overall dependency of cancer cell lines on ABC transporter genes such as ABCG2, ABCG1, ABCC4, ABCA2, ABCA3, ABCC2, ABCC3, ABCC6, ABCC7 (CFTR), and ABCC9, with ABCC6 and ABCC7 showing notably high dependence.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “INTRODUCTION: Cystic fibrosis (CF) is a severe autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Key channels, including Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and ClC-2, are discussed in detail because of their involvement in maintaining intestinal epithelial barrier function, a critical factor disrupted in IBD.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in defective chloride ion channels.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR) gene has significantly increased.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic Fibrosis Transmembrane Regulator (CFTR) is a significant protein that is responsible for the movement of ions across cell membranes.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Various variables such as gene modifiers, environmental factors, age of diagnosis, and CF transmembrane conductance regulator (CFTR) gene mutations influence phenotypic disease diversity.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “The role of CFTR channel in female infertility.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “However, quite a number of recent studies have uncovered CF cases outside of this region, and reported hundreds of unique and novel variant forms of CFTR.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Neuropsychiatric adverse effects from CFTR modulators deserve a serious research effort.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “BACKGROUND: Cystic fibrosis (CF) is a genetic condition caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that primarily impacts the lungs.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “CFTR protein quantification as a cystic fibrosis diagnostic biomarker in dried blood spots using multiple reaction monitoring tandem mass spectrometry.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic fibrosis (CF) is a genetic disease that affects the exocrine glands and is caused by cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Functional defects in the cystic fibrosis transmembrane conductance receptor (CFTR) protein based on these mutations are categorised into distinct classes having different clinical presentations and disease severity.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Defining the role of CFTR channel blocker and ClC-2 activator in DNBS induced gastrointestinal inflammation.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic fibrosis (CF), the most common lethal autosomal recessive disorder among Caucasians, is caused by mutations in the CF transmembrane conductance regulator (CFTR) chloride channel gene.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Currently, the measurement of immuno reactive trypsinogen in dry blood spots (DBSs) is the gold-standard method for initial newborn screening for CF, followed by targeted CF transmembrane regulator (CFTR) mutation analysis, and ultimate confirmation with abnormally elevated sweat chloride.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “OBJECTIVE: Determine the pattern of CFTR variants in the CF population of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Mucociliary clearance, the physiological process by which mammalian conducting airways expel pathogens and unwanted surface materials from the respiratory tract, depends on the coordinated function of multiple specialized cell types, including basal stem cells, mucus-secreting goblet cells, motile ciliated cells, cystic fibrosis transmembrane conductance regulator (CFTR)-rich ionocytes, and immune cells1,2.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “BACKGROUND: Some mutations of the cystic fibrosis transmembrane regulator (CFTR) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Cystic Fibrosis (CF), an autosomal recessive genetic disease, is caused by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR).” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “OBJECTIVES: To obtain the prevalence of the different types of viral infection in CF patients and to identify its relation with the type of bacterial infection, (CFTR) mutations and pulmonary function test (PFT).” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “The immunosensor has shown good sensitivity as well as selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and Duchenne Muscular Dystrophy (DMD).” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, Y-chromosome microdeletion and CFTR testing.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “The voltammetric SMN carbon nanofiber-based immunosensor showed high sensitivity (detection limit of 0.75pg/ml) and selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and dystrophin (DMD).” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “The genes reviewed are CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1 and NR5A1 genes.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “KEY FINDINGS: Cystic fibrosis is an autosomal recessive disorder due to mutations in CFTR gene leading to abnormality of chloride channels in mucus and sweat producing cells.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Analogous with cystic fibrosis CFTR p.Phe508del, screening for RSPH9 p.Lys268del (which lacks sentinel dextrocardia) in those at risk would help in early diagnosis, tailored clinical management, genetic counselling and primary prevention.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Growth parameters and calcium homeostasis in cystic fibrosis patients with CFTR I1234V mutation.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “A genotypic study was undertaken to characterize the cystic fibrosis transmembrane regulator gene mutations (CFTR) in the Bahraini cystic fibrosis (CF) population using a polymerase chain reaction-based direct gene test to search for 15 common CF mutations amongst Arabs.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “UNLABELLED: The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “A descriptive study was undertaken to characterize cystic fibrosis transmembrane regulator (CFTR) gene mutations in the Saudi Arabian cystic fibrosis (CF) population in relation to their clinical picture, demographic features and ethnic origin.” | 0.98 | hgnc_dict_v1 |