Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) ELISA Kits

Human Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. These data indicate that hydrogen sulfide activates CFTR in Xenopus oocytes by inhibiting phosphodiesterase activity and subsequent stimulation of CFTR by cAMP-dependent protein kinase A.

2. Treated were cystic fibrosis airway cells (CFBE41o(-)) with AAV2/1 (AAV2 inverted terminal repeats/AAV1 capsid) containing truncated forms of CFTR, 264 and 27-264 CFTR, who can restore the function of F508-del by transcomplementation. Both F508del and the truncation mutants colocalize in the endoplasmic reticulum and that both the rescued F508-del and the transcomplementing mutants reach the plasma membrane together.

3. these compounds marginally improve DeltaF508-CFTR folding efficiency, function and stability, their combinations lead to ~50-100% of wild-type-level correction in immortalized and primary human airway epithelia and in mouse nasal epithelia. Likewise, corrector combinations were effective against rare missense mutations in various CFTR domains, probably acting via structural allostery, suggesting a mechanistic framework...

4. CFTR gene mutations are correlated with congenital bilateral absence of the vas deferens in an Iranian population.

5. CFTR expression was significantly increased in prostate cancer tissues resistanft to cisplatin

6. In vitro cell cultures with impaired CFTR activity secrete more lactic acid, which is mostly responsible for the reduced pH.

7. Seven of ten patients had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one had not yet been reported in patients with Cystic Fibrosis (A107P). Among the seven patients, three had the second mutant allele of rare occurrence among Brazilians patients (G1069R and 2307insA). Three other patients also had at least one rare variant (V201M, S466X and G1069R).

8. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic cystic fibrosis at a very early stage.

9. Evidence for direct interaction between actin and the cystic fibrosis transmembrane conductance regulator.

10. Frequency of p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations was studied in cystic fibrosis Brazilian children. the predominant genotype was p.Gly542X/other mutation (29.4%), followed by p.Phe508del/p.Phe508del (21.6%) and p.Phe508del/ p.Gly542X (15.7%).

11. Study from one hundred and forty-one suspected Ecuadorian cystic fibrosis patients identified twenty-eight disease-causing CFTR variants. The following six novel potentially disease-associated variants were detected: 3 deletions (CFTR_dele10, CFTR_dele12, and c.2672delA), 1 nonsense variant (p.Cys491*), 1 missense variant (p.Trp496Arg), and 1 complex allele (p.[Gly253Arg;Gly451Val]).

12. Aquagenic wrinkling of the palms (AW) could be one or even the only manifestation of a clinically minimal and not easily detectable form of cystic fibrosis (CF) or of a mild clinical condition characterized by residual function of the CFTR protein like a CFTR related disorder. [review]

13. CFTR functional genotype class was not associated with Maximal Exercise Capacity in patients with Cystic Fibrosis overall, but those with at least one copy of a F508del-CFTR mutation and a single class V mutation had lower Maximal Exercise Capacity.

14. mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. 7% of the patients presented type III and IV mutations and could be treated with Ivacaftor.

15. role for cytosolic Ca(2+) in modulating the residency of CFTR at the plasma membrane through a dynamin- and calcineurin-dependent mechanism.

16. siRNA-mediated silencing of eIF3a reduced the polysome-to-monosome ratio in F508del-expressing cells, which, in turn, decreased the translation of CFTR variants, leading to increased CFTR stability, trafficking, and function at the cell surface.

17. BAG3 silencing-mediated correction of F508del-CFTR restores the autophagy pathway, which is defective in F508del-CFTR-expressing cells, likely because of the maladaptive stress response in cystic fibrosis pathophysiology.

18. using immunofluorescence, modulation of signalling pathways and electrophysiology, it is shown that Notch signalling is necessary and FOXI1 expression is sufficient to drive the production of the pulmonary ionocyte, and that the pulmonary ionocyte is a major source of CFTR activity in the conducting airway epithelium

19. Loss of CFTR expression is associated with kidney fibrosis.

20. Mutations of CFTR gene are the cause of cystic fibrosis.

Xenopus laevis Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. Study conclude that when both CFTR and NPT2a are expressed in X. laevis oocytes, CFTR confers to NPT2a a cAMPi-dependent trafficking to the membrane.

2. NDPK-A exists in a functional cellular complex with AMPK and CFTR in airway epithelia, and NDPK-A catalytic function is required for the AMPK-dependent regulation of CFTR

3. This study discovers an essential role of CFTR in mediating the retinoic acid-dependent signaling for stem cell differentiation and embryonic development.

4. wild-type CFTR channel gating cycle is essentially irreversible and tightly coupled to the ATPase cycle, and that this coupling is completely destroyed by the NBD2 Walker B mutation D1370N but only partially disrupted by the NBD1 Walker A mutation K464A.

5. The cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that belongs to the superfamily of ATP binding cassette (ABC) transporters.

6. These data suggest that the Xenopus P2Y1 receptor can increase both cyclic AMP/protein kinase A and calcium/protein kinase C levels and that the PKC pathway is involved in CFTR activation via potentiation of the PKA pathway.

Mouse (Murine) Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. In summary, the authors have described a direct link from CFTR to Ezrin to PI3K/AKT signaling that is disrupted in cystic fibrosis, and thus promotes hyper-inflammation and weakens phagocytosis.

2. these compounds marginally improve DeltaF508-CFTR folding efficiency, function and stability, their combinations lead to ~50-100% of wild-type-level correction in immortalized and primary human airway epithelia and in mouse nasal epithelia.

3. The diverse phenotypes associated with CFTR mutations may be due to malfunction of CFTR at specific subcellular locations in the male reproductive system.

4. Cystic fibrosis proximal airway defects originate during branching morphogenesis and that the lack of CFTR-dependent anion transport/liquid secretion likely contributes to these hypo-distended airways.

5. using immunofluorescence, modulation of signalling pathways and electrophysiology, it is shown that Notch signalling is necessary and FOXI1 expression is sufficient to drive the production of the pulmonary ionocyte, and that the pulmonary ionocyte is a major source of CFTR activity in the conducting airway epithelium

6. Loss of CFTR expression is associated with kidney fibrosis.

7. by associating cell-type-specific expression programs with key disease genes (like CFTR), a new cellular narrative for airways disease is established

8. Results show that CFTR channels are present in alpha cells and act as important negative regulators of cAMP-enhanced glucagon secretion through effects on alpha cell membrane potential. These data support that loss-of-function mutations in CFTR contributes to dysregulated glucagon secretion in Cystic Fibrosis-related diabetes.

9. these results demonstrate that CFTR prevents inflammation and atherogenesis via inhibition of NFkappaB and MAPKs activation

10. CFTR physically interacts with beta-catenin, defect of which leads to premature degradation of beta-catenin and suppressed activation of beta-catenin signaling.

11. CFTR attaches tumor suppressor PTEN to the membrane and promotes anti Pseudomonas aeruginosa immunity.

12. Our studies reveal a novel function for CFTR in antiviral immunity and demonstrate that the DeltaF508 mutation in cftr is coupled to an impaired adaptive immune response. This important insight could open up new approaches for patient care and treatment.

13. a new and more convenient approach, based on in vivo imaging analysis, has been set up to evaluate the inflammatory response in the lung of CFTR-deficient (CF) mice, a murine model of cystic fibrosis.

14. results reveal that by potentiating adenosine triphosphate-sensitive K+ (KATP) channel, cystic fibrosis transmembrane conductance regulator CFTR acts as a glucose-sensing negative regulator of glucagon secretion in alpha cells

15. This study demonstrates that CFTR plays an important role in tenogenic differentiation and tendon regeneration by inhibiting the beta-catinin/pERK1/2 signaling pathway.

16. CFTR is a tumor suppressor gene in murine and human colorectal cancer

17. Insulin stimulation of Akt1 and Akt2 signaling in Cystic fibrosis airway cells was diminished compared with that observed in airway cells expressing wild-type CFTR.

18. Biotinylation and streptavidin pull-down assays confirmed that CAL dramatically reduces the expression level of total and cell surface Mrp2 in Huh-7 cells. Our findings suggest that CAL interacts with Mrp2 and is a negative regulator of Mrp2 expression.

19. Myelinosomes secreted from testis somatic TM4 Sertoli cells provide the release of aggregate-prone mutant, but not normal Huntingtin (Htt) exon1. Myelinosomes also support the release of other aggregate-prone mutant protein responsible for cystic fibrosis (CF), F508delCFTR.

20. ATP8B1 is important for proper CFTR expression and function.

Pig (Porcine) Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. Results suggest that acetylcholine does not regulate the activity of the CFTR in tracheal epithelia of pigs which opposes observation from studies using mice airway epithelium.

2. Expression of CFTR-F508del interferes with smooth muscle cell calcium handling and decreases aortic responsiveness.

3. Pseudomonas aeruginosa and other bacteria into the lumen of intact isolated swine tracheas triggers CFTR-dependent airway surface liquid secretion by the submucosal glands.

4. TGF-beta1, via TGF-beta1 receptor I and p38 MAPK signaling, reduces CFTR expression to impair CFTR-mediated anion secretion, which would likely compound the effects associated with mild CFTR mutations and ultimately would compromise male fertility.

5. The esophageal submucosal glands (SMG) secrete HCO(3)(-) and mucus into the esophageal lumen, where they contribute to acid clearance and epithelial protection. We investigated the presence of CFTR, its involvement in the secretion process, and the effect of cAMP on HCO3 secretion in this tissue. This is the first report on the presence of CFTR channels in the esophagus.

6. data suggest that loss of CFTR directly alters Schwann cell function and that some nervous system defects in people with cystic fibrosis are likely primary

7. The data suggest, that during bacterial infections and resulting release of proinflammatory cytokines, the glands are stimulated to secrete fluid, and this response is mediated by cAMP-activated CFTR.

8. CFTR is required for maximal liquid absorption by lung alveoli under cAMP stimulation

9. These findings reveal differences between nasal and tracheal glands, show defective fluid secretion in nasal glands of cystic fibrosis pigs, reveal some spared function in the DeltaF508 vs. null piglets.

10. causal link between CFTR mutations and partial or total vas deferens and/or epididymis atresia at birth

11. These data provide a molecular basis for interpreting enamel disease associated with disruptions to CFTR and AE2 expression.

12. These results suggest that limited DeltaF508-mutant CFTR activity in is insufficient to prevent lung or gastrointestinal disease in CF pigs.

13. CFTR mediates cAMP-stimulated Cl- secretion in a well-differentiated thyroid culture model. Knockout of CFTR promotes increased Na+ absorption by a mechanism other than increased epithelial sodium channel expression.

14. These results indicate that CFTR provides the predominant transcellular pathway for Cl and HCO in porcine airway epithelia, and reduced anion permeability may initiate CF airway disease.

15. Data show that PDE3A inhibition augments CFTR-dependent submucosal gland secretion and actin skeleton disruption decreases secretion.

16. Expression of pCFTR was found to largely resemble that of hCFTR except for the kidney, brain, and cutaneous glands, which lack expression in pigs.

17. The role of CFTR in submucosal gland fluid secretion was tested in pig airways. The reduced rate of gland fluid secretion after CFTR inhibition shown here provides strong evidence for the involvement of CFTR in glandular epithelial fluid transport.

18. significant differences in CFTR channel mRNA and protein levels were present in atrial and ventricular cells, but not in regional ventricular cells across the ventricular wall from subepicardium to subendocardium

19. analysis of species-dependent differences of CFTR-DeltaF508 in human, pig and mouse

20. The mild cellular processing defect of pig DeltaF508-CFTR suggests that its gene-targeted pig model may not develop the lung and pancreatic phenotypes seen in CF patients.

Cow (Bovine) Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. conserved CFTR sequences between species are examined for potential regulatory elements. Regions of introns 2, 3, 10, 17a, 18, and 21 and 3' flanking sequence corresponding to human CFTR DNase I hypersensitive sites showed high homology in cow and pig.

Guinea Pig Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. Results demonstrate functional coupling between Cftr and Slc26a6-like Cl(-)/HCO(3)(-) exchange activity in apical membrane of guinea pig pancreatic interlobular duct.

Zebrafish Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) (CFTR) interaction partners

1. data not only provide a reasonable explanation for the unexpected closed-state structure of phosphorylated E1372Q-zCFTR with a canonical ATP-bound dimer of the nucleotide binding domains (NBDs), but also implicate significant structural and functional differences between these two evolutionarily distant orthologs.

2. study revealed an important role of cystic fibrosis transmembrane conductance regulator (CFTR) acting as an ion channel in regulating primordial germ cell migration during early embryogenesis

3. Molecular dynamics of the cryo-EM CFTR structure

4. Study presents the structure of zebrafish CFTR in the phosphorylated, ATP-bound conformation, determined by cryoelectron microscopy to 3.4 A resolution. Comparison of the two conformations shows major structural rearrangements leading to channel opening.

5. Study determined the structure of the zebrafish CFTR by electron cryo-microscopy to 3.7 A resolution; shares 55% sequence identity with human CFTR, and 42 of the 46 cystic-fibrosis-causing missense mutational sites are identical.

6. Cftr mutant zebrafish develops pancreatic destruction similar to cystic fibrosis of the human pancreas.