Cftr

Summary

Gene Symbol: Cftr
Description: cystic fibrosis transmembrane conductance regulator
Alias: AW495489, Abcc7, cystic fibrosis transmembrane conductance regulator, ATP-binding cassette sub-family C member 7, ATP-binding cassette transporter sub-family C member 7, ATP-binding cassette, subfamily c, member 7, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulator homolog, cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7
Species: mouse
Products:     Cftr

Top Publications

  1. Zeiher B, Eichwald E, Zabner J, Smith J, Puga A, McCray P, et al. A mouse model for the delta F508 allele of cystic fibrosis. J Clin Invest. 1995;96:2051-64 pubmed
    The most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR)...
  2. Brouillard F, Bensalem N, Hinzpeter A, Tondelier D, Trudel S, Gruber A, et al. Blue native/SDS-PAGE analysis reveals reduced expression of the mClCA3 protein in cystic fibrosis knock-out mice. Mol Cell Proteomics. 2005;4:1762-75 pubmed
    ..disorder caused by mutation of a gene encoding a multifunctional transmembrane protein, the cystic fibrosis transmembrane conductance regulator (CFTR), located in the apical membrane of epithelial cells lining exocrine glands...
  3. Fiorotto R, Scirpo R, Trauner M, Fabris L, Hoque R, Spirli C, et al. Loss of CFTR affects biliary epithelium innate immunity and causes TLR4-NF-?B-mediated inflammatory response in mice. Gastroenterology. 2011;141:1498-508, 1508.e1-5 pubmed publisher
    Loss of function of the cystic fibrosis transmembrane conductance regulator (CFTR) in the biliary epithelium reduces bile flow and alkalinization in patients with cystic fibrosis (CF)...
  4. Rock J, O Neal W, Gabriel S, Randell S, Harfe B, Boucher R, et al. Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways. J Biol Chem. 2009;284:14875-80 pubmed publisher
    ..appeared to contribute little to unstimulated Cl(-) secretion, whereas studies with cystic fibrosis transmembrane conductance regulator (CFTR)-deficient mice and wild-type littermates revealed that unstimulated Cl(-) secretion ..
  5. White N, Jiang D, Burgess J, Bederman I, Previs S, Kelley T. Altered cholesterol homeostasis in cultured and in vivo models of cystic fibrosis. Am J Physiol Lung Cell Mol Physiol. 2007;292:L476-86 pubmed
    ..increase in plasma membrane cholesterol content in both cultured CF cells and in nasal tissue excised from cftr(-/-) mice...
  6. Dif F, Marty C, Baudoin C, de Vernejoul M, Levi G. Severe osteopenia in CFTR-null mice. Bone. 2004;35:595-603 pubmed
    ..analysis of the bones of a mouse genetic model of human CF in which both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are inactivated...
  7. Huaux F, Noel S, Dhooghe B, Panin N, Lo Re S, Lison D, et al. Dysregulated proinflammatory and fibrogenic phenotype of fibroblasts in cystic fibrosis. PLoS ONE. 2013;8:e64341 pubmed publisher
    ..mRNA and protein expression of proinflammatory mediators were higher in CF than in wild-type fibroblasts, in which CFTR expression reached similar levels to those observed in other non-epithelial cells, such as macrophages...
  8. De Lisle R, Isom K, Ziemer D, Cotton C. Changes in the exocrine pancreas secondary to altered small intestinal function in the CF mouse. Am J Physiol Gastrointest Liver Physiol. 2001;281:G899-906 pubmed
    The exocrine pancreas of the cystic fibrosis (CF) mouse (cftr(m1UNC)) is only mildly affected compared with the human disease, providing a useful model to study alterations in exocrine function...
  9. Bonfield T, Hodges C, Cotton C, Drumm M. Absence of the cystic fibrosis transmembrane regulator (Cftr) from myeloid-derived cells slows resolution of inflammation and infection. J Leukoc Biol. 2012;92:1111-22 pubmed publisher
    The absence or reduction of CFTR function causes CF and results in a pulmonary milieu characterized by bacterial colonization and unresolved inflammation...
  10. Hashimoto Y, Shuto T, Mizunoe S, Tomita A, Koga T, Sato T, et al. CFTR-deficiency renders mice highly susceptible to cutaneous symptoms during mite infestation. Lab Invest. 2011;91:509-18 pubmed publisher
    ..Here, we identify the cystic fibrosis transmembrane conductance regulator (CFTR/Cftr), an integral membrane protein that mediates transepithelial chloride transport, ..

Detail Information

Publications88

  1. Zeiher B, Eichwald E, Zabner J, Smith J, Puga A, McCray P, et al. A mouse model for the delta F508 allele of cystic fibrosis. J Clin Invest. 1995;96:2051-64 pubmed
    The most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR)...
  2. Brouillard F, Bensalem N, Hinzpeter A, Tondelier D, Trudel S, Gruber A, et al. Blue native/SDS-PAGE analysis reveals reduced expression of the mClCA3 protein in cystic fibrosis knock-out mice. Mol Cell Proteomics. 2005;4:1762-75 pubmed
    ..disorder caused by mutation of a gene encoding a multifunctional transmembrane protein, the cystic fibrosis transmembrane conductance regulator (CFTR), located in the apical membrane of epithelial cells lining exocrine glands...
  3. Fiorotto R, Scirpo R, Trauner M, Fabris L, Hoque R, Spirli C, et al. Loss of CFTR affects biliary epithelium innate immunity and causes TLR4-NF-?B-mediated inflammatory response in mice. Gastroenterology. 2011;141:1498-508, 1508.e1-5 pubmed publisher
    Loss of function of the cystic fibrosis transmembrane conductance regulator (CFTR) in the biliary epithelium reduces bile flow and alkalinization in patients with cystic fibrosis (CF)...
  4. Rock J, O Neal W, Gabriel S, Randell S, Harfe B, Boucher R, et al. Transmembrane protein 16A (TMEM16A) is a Ca2+-regulated Cl- secretory channel in mouse airways. J Biol Chem. 2009;284:14875-80 pubmed publisher
    ..appeared to contribute little to unstimulated Cl(-) secretion, whereas studies with cystic fibrosis transmembrane conductance regulator (CFTR)-deficient mice and wild-type littermates revealed that unstimulated Cl(-) secretion ..
  5. White N, Jiang D, Burgess J, Bederman I, Previs S, Kelley T. Altered cholesterol homeostasis in cultured and in vivo models of cystic fibrosis. Am J Physiol Lung Cell Mol Physiol. 2007;292:L476-86 pubmed
    ..increase in plasma membrane cholesterol content in both cultured CF cells and in nasal tissue excised from cftr(-/-) mice...
  6. Dif F, Marty C, Baudoin C, de Vernejoul M, Levi G. Severe osteopenia in CFTR-null mice. Bone. 2004;35:595-603 pubmed
    ..analysis of the bones of a mouse genetic model of human CF in which both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are inactivated...
  7. Huaux F, Noel S, Dhooghe B, Panin N, Lo Re S, Lison D, et al. Dysregulated proinflammatory and fibrogenic phenotype of fibroblasts in cystic fibrosis. PLoS ONE. 2013;8:e64341 pubmed publisher
    ..mRNA and protein expression of proinflammatory mediators were higher in CF than in wild-type fibroblasts, in which CFTR expression reached similar levels to those observed in other non-epithelial cells, such as macrophages...
  8. De Lisle R, Isom K, Ziemer D, Cotton C. Changes in the exocrine pancreas secondary to altered small intestinal function in the CF mouse. Am J Physiol Gastrointest Liver Physiol. 2001;281:G899-906 pubmed
    The exocrine pancreas of the cystic fibrosis (CF) mouse (cftr(m1UNC)) is only mildly affected compared with the human disease, providing a useful model to study alterations in exocrine function...
  9. Bonfield T, Hodges C, Cotton C, Drumm M. Absence of the cystic fibrosis transmembrane regulator (Cftr) from myeloid-derived cells slows resolution of inflammation and infection. J Leukoc Biol. 2012;92:1111-22 pubmed publisher
    The absence or reduction of CFTR function causes CF and results in a pulmonary milieu characterized by bacterial colonization and unresolved inflammation...
  10. Hashimoto Y, Shuto T, Mizunoe S, Tomita A, Koga T, Sato T, et al. CFTR-deficiency renders mice highly susceptible to cutaneous symptoms during mite infestation. Lab Invest. 2011;91:509-18 pubmed publisher
    ..Here, we identify the cystic fibrosis transmembrane conductance regulator (CFTR/Cftr), an integral membrane protein that mediates transepithelial chloride transport, ..
  11. Bodewes F, Wouthuyzen Bakker M, Bijvelds M, Havinga R, de Jonge H, Verkade H. Ursodeoxycholate modulates bile flow and bile salt pool independently from the cystic fibrosis transmembrane regulator (Cftr) in mice. Am J Physiol Gastrointest Liver Physiol. 2012;302:G1035-42 pubmed publisher
    ..Our aim was to evaluate, in cystic fibrosis transmembrane regulator knockout (Cftr(-/-)) mice and wild-type controls, whether the supposed therapeutic action of UDCA is mediated via choleretic ..
  12. Deriy L, Gomez E, Zhang G, Beacham D, Hopson J, Gallan A, et al. Disease-causing mutations in the cystic fibrosis transmembrane conductance regulator determine the functional responses of alveolar macrophages. J Biol Chem. 2009;284:35926-38 pubmed publisher
    ..Recently, we demonstrated that murine alveolar macrophages employ the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel as a determinant in lysosomal acidification (Di, A., Brown, M. E...
  13. Bruscia E, Price J, Cheng E, Weiner S, Caputo C, Ferreira E, et al. Assessment of cystic fibrosis transmembrane conductance regulator (CFTR) activity in CFTR-null mice after bone marrow transplantation. Proc Natl Acad Sci U S A. 2006;103:2965-70 pubmed
    ..We investigate whether, after transplantation of cystic fibrosis transmembrane conductance regulator (CFTR)-positive BM-derived cells, BM-derived GI and airway epithelial cells can provide ..
  14. Norkina O, Kaur S, Ziemer D, De Lisle R. Inflammation of the cystic fibrosis mouse small intestine. Am J Physiol Gastrointest Liver Physiol. 2004;286:G1032-41 pubmed
    The CFTR null mouse [cystic fibrosis (CF) mouse] has a severe intestinal phenotype that serves as a model for CF-related growth deficiency, meconium ileus, and distal intestinal obstructive syndrome...
  15. Divangahi M, Balghi H, Danialou G, Comtois A, Demoule A, Ernest S, et al. Lack of CFTR in skeletal muscle predisposes to muscle wasting and diaphragm muscle pump failure in cystic fibrosis mice. PLoS Genet. 2009;5:e1000586 pubmed publisher
    ..Here we show that lack of the CF transmembrane conductance regulator (CFTR) plays an intrinsic role in skeletal muscle atrophy and dysfunction...
  16. Bronckers A, Kalogeraki L, Jorna H, Wilke M, Bervoets T, Lyaruu D, et al. The cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in maturation stage ameloblasts, odontoblasts and bone cells. Bone. 2010;46:1188-96 pubmed publisher
    Patients with cystic fibrosis (CF) have mild defects in dental enamel. The gene mutated in these patients is CFTR, a Cl(-) channel involved in transepithelial salt and water transport and bicarbonate secretion...
  17. Debray D, Rainteau D, Barbu V, Rouahi M, El Mourabit H, Lerondel S, et al. Defects in gallbladder emptying and bile Acid homeostasis in mice with cystic fibrosis transmembrane conductance regulator deficiencies. Gastroenterology. 2012;142:1581-91.e6 pubmed publisher
    Patients with cystic fibrosis (CF) have poorly defined defects in biliary function. We evaluated the effects of cystic fibrosis transmembrane conductance regulator (CFTR) deficiency on the enterohepatic disposition of bile acids (BAs).
  18. Luz S, Kongsuphol P, Mendes A, Romeiras F, Sousa M, Schreiber R, et al. Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity. Mol Cell Biol. 2011;31:4392-404 pubmed publisher
    Previously, the pleiotropic "master kinase" casein kinase 2 (CK2) was shown to interact with CFTR, the protein responsible for cystic fibrosis (CF)...
  19. Barriere H, Bagdany M, Bossard F, Okiyoneda T, Wojewodka G, Gruenert D, et al. Revisiting the role of cystic fibrosis transmembrane conductance regulator and counterion permeability in the pH regulation of endocytic organelles. Mol Biol Cell. 2009;20:3125-41 pubmed publisher
    ..defective organellar pH regulation, caused by impaired counterion conductance of the mutant cystic fibrosis transmembrane conductance regulator (CFTR), remains highly controversial in epithelia and macrophages...
  20. Smith S, Steel D, Middleton P, Munkonge F, Geddes D, Caplen N, et al. Bioelectric characteristics of exon 10 insertional cystic fibrosis mouse: comparison with humans. Am J Physiol. 1995;268:C297-307 pubmed
    ..We conclude that the majority of the salient electrophysiological features of CF required for studies of pathogenesis or testing of new treatments are present in these cf/cf mice...
  21. Mall M, Button B, Johannesson B, Zhou Z, Livraghi A, Caldwell R, et al. Airway surface liquid volume regulation determines different airway phenotypes in liddle compared with betaENaC-overexpressing mice. J Biol Chem. 2010;285:26945-55 pubmed publisher
    ..To investigate this apparent paradox, we compared the airway phenotype (nasal versus tracheal) of Liddle with CFTR-null, betaENaC-Tg, and double mutant mice...
  22. Di A, Brown M, Deriy L, Li C, Szeto F, Chen Y, et al. CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Nat Cell Biol. 2006;8:933-44 pubmed
    ..Here, we show that in alveolar macrophages the cystic fibrosis transmembrane conductance regulator Cl- channel (CFTR) participates in phagosomal pH control and has bacterial killing capacity...
  23. Kanelis V, Hudson R, Thibodeau P, Thomas P, Forman Kay J. NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR. EMBO J. 2010;29:263-77 pubmed publisher
    The most common cystic fibrosis (CF)-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is deletion of Phe508 (DeltaF508) in the first of two nucleotide-binding domains (NBDs)...
  24. Liang H, Yang L, Ma T, Zhao Y. Functional expression of cystic fibrosis transmembrane conductance regulator in mouse chondrocytes. Clin Exp Pharmacol Physiol. 2010;37:506-8 pubmed publisher
    1. Cystic fibrosis transmembrane conductance regulator (CFTR) is well known for its role in the cystic fibrosis (CF)...
  25. van Heeckeren A, Schluchter M, Xue L, Alvarez J, Freedman S, St George J, et al. Nutritional effects on host response to lung infections with mucoid Pseudomonas aeruginosa in mice. Infect Immun. 2004;72:1479-86 pubmed
    In cystic fibrosis, a recessive genetic disease caused by defects in the cystic fibrosis conductance regulator (CFTR), the main cause of death is lung infection and inflammation...
  26. Catalán M, Nakamoto T, Gonzalez Begne M, Camden J, Wall S, Clarke L, et al. Cftr and ENaC ion channels mediate NaCl absorption in the mouse submandibular gland. J Physiol. 2010;588:713-24 pubmed publisher
    Cystic fibrosis is caused by mutations in CFTR, the cystic fibrosis transmembrane conductance regulator gene...
  27. Gosselin D, Stevenson M, Cowley E, Griesenbach U, Eidelman D, Boule M, et al. Impaired ability of Cftr knockout mice to control lung infection with Pseudomonas aeruginosa. Am J Respir Crit Care Med. 1998;157:1253-62 pubmed
    The present study was aimed at investigating the innate susceptibility of C57BL/6-Cftrunc/Cftrunc knockout [B6-Cftr (-/-)] mice to pulmonary infection with Pseudomonas aeruginosa. Our results indicate that 58...
  28. Xu Y, Clark J, Aronow B, Dey C, Liu C, Wooldridge J, et al. Transcriptional adaptation to cystic fibrosis transmembrane conductance regulator deficiency. J Biol Chem. 2003;278:7674-82 pubmed
    ..commonly inherited lethal pulmonary disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR)...
  29. Dickinson P, Smith S, Webb S, Kilanowski F, Campbell I, Taylor M, et al. The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Hum Mol Genet. 2002;11:243-51 pubmed
    The majority of cystic fibrosis patients produce a mutant form of CFTR (DeltaF508) which has been shown to be mislocalized in both humans and mice...
  30. Koller B, Kim H, Latour A, Brigman K, Boucher R, Scambler P, et al. Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells. Proc Natl Acad Sci U S A. 1991;88:10730-4 pubmed
    ..8 kilobases of DNA spanning exon 10 of the mouse cystic fibrosis transmembrane regulator (CFTR) gene in which part of the exon has been replaced by two neomycin-resistance (Neo) genes driven by different ..
  31. Larbig M, Jansen S, Dorsch M, Bernhard W, Bellmann B, Dorin J, et al. Residual cftr expression varies with age in cftr(tm1Hgu) cystic fibrosis mice: impact on morphology and physiology. Pathobiology. 2002;70:89-97 pubmed
    ..addressed whether aging of the respiratory tract leads to lung pathophysiology in the exon 10 insertional mutant cftr(tm1Hgu) mouse...
  32. Eckman E, Cotton C, Kube D, Davis P. Dietary changes improve survival of CFTR S489X homozygous mutant mouse. Am J Physiol. 1995;269:L625-30 pubmed
    Over 90% of untreated CFTR S489X homozygous (CF) mutant mice reportedly die of intestinal obstruction by 40 days of age, significantly limiting their usefulness as a model for the human disease...
  33. Luciani A, Villella V, Esposito S, Brunetti Pierri N, Medina D, Settembre C, et al. Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat Cell Biol. 2010;12:863-75 pubmed publisher
    ..CF), a life-threatening genetic disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR)...
  34. Dalli J, Rosignoli G, Hayhoe R, Edelman A, Perretti M. CFTR inhibition provokes an inflammatory response associated with an imbalance of the annexin A1 pathway. Am J Pathol. 2010;177:176-86 pubmed publisher
    Cystic fibrosis (CF), a disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, is characterized by chronic bacterial infections and inflammation in the lung...
  35. Thomas G, Costelloe E, Lunn D, Stacey K, Delaney S, Passey R, et al. G551D cystic fibrosis mice exhibit abnormal regulation of inflammation in lungs and macrophages. J Immunol. 2000;164:3870-7 pubmed
    ..These results provide evidence that the pathology of CF relates to abnormal regulation of the immune system. ..
  36. Norkina O, Burnett T, De Lisle R. Bacterial overgrowth in the cystic fibrosis transmembrane conductance regulator null mouse small intestine. Infect Immun. 2004;72:6040-9 pubmed
    ..These data suggest that bacterial overgrowth in the CF mouse small intestine has a role in inflammation and contributes to the failure to thrive in this mouse model of CF. ..
  37. Mouchel N, Henstra S, McCarthy V, Williams S, Phylactides M, Harris A. HNF1alpha is involved in tissue-specific regulation of CFTR gene expression. Biochem J. 2004;378:909-18 pubmed
    The CFTR (cystic fibrosis transmembrane conductance regulator) gene shows a complex pattern of expression with tissue-specific and temporal regulation...
  38. Cohen J, Lundblad L, Bates J, Levitzky M, Larson J. The "Goldilocks effect" in cystic fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse. BMC Genet. 2004;5:21 pubmed
    ..However, knockout in the mouse of cftr, the gene whose mutant alleles are responsible for cystic fibrosis, has previously failed to produce a readily, ..
  39. Grubb B, O Neal W, Ostrowski L, Kreda S, Button B, Boucher R. Transgenic hCFTR expression fails to correct ?-ENaC mouse lung disease. Am J Physiol Lung Cell Mol Physiol. 2012;302:L238-47 pubmed publisher
    ..1) To determine if transgenic overexpression of wild-type (WT) human CFTR (hCFTR) accelerated Cl(-) secretion and regulated Na(+) absorption in murine airways, we utilized a Clara cell ..
  40. Geiser M, Zimmermann B, Baumann M, Cruz Orive L. Does lack of Cftr gene lead to developmental abnormalities in the lung?. Exp Lung Res. 2000;26:551-64 pubmed
    ..We show here, to our knowledge for the first time, a quantitative comparison of the fine pulmonary structures of cftr mutant versus non-cf mice...
  41. Riordan J, Rommens J, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-73 pubmed
    ..A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients. ..
  42. Wilke M, Buijs Offerman R, Aarbiou J, Colledge W, Sheppard D, Touqui L, et al. Mouse models of cystic fibrosis: phenotypic analysis and research applications. J Cyst Fibros. 2011;10 Suppl 2:S152-71 pubmed publisher
    ..Novel data are presented on the intestinal and nasal physiology of F508del-CFTR CF mice backcrossed onto different genetic backgrounds...
  43. Guilbault C, Novak J, Martin P, Boghdady M, Saeed Z, Guiot M, et al. Distinct pattern of lung gene expression in the Cftr-KO mice developing spontaneous lung disease compared with their littermate controls. Physiol Genomics. 2006;25:179-93 pubmed
    Cystic fibrosis (CF) is caused by a defect in the CF transmembrane conductance regulator (CFTR) protein that functions as a chloride channel...
  44. White N, Higgins C, Trezise A. Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes. Hum Mol Genet. 1998;7:363-9 pubmed
    The in vivo transcription start sites of the human cystic fibrosis transmembrane conductance regulator gene ( CFTR ) and its murine homologue ( Cftr ) have been mapped in a range of tissues using the technique of 5' rapid amplification ..
  45. Schroeder T, Reiniger N, Meluleni G, Grout M, Coleman F, Pier G. Transgenic cystic fibrosis mice exhibit reduced early clearance of Pseudomonas aeruginosa from the respiratory tract. J Immunol. 2001;166:7410-8 pubmed
    The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) has been proposed to be an epithelial cell receptor for Pseudomonas aeruginosa involved in bacterial internalization and clearance from the lung...
  46. Garcia M, Yang N, Quinton P. Normal mouse intestinal mucus release requires cystic fibrosis transmembrane regulator-dependent bicarbonate secretion. J Clin Invest. 2009;119:2613-22 pubmed publisher
    ..However, recent studies indicate that CF transmembrane conductance regulator (CFTR) is required for bicarbonate (HCO3-) transport and that HCO3- is critical for normal mucus formation...
  47. Griesenbach U, Smith S, Farley R, Singh C, Alton E. Validation of nasal potential difference measurements in gut-corrected CF knockout mice. Am J Respir Cell Mol Biol. 2008;39:490-6 pubmed publisher
    ..Fatty acid-binding promoter (FABp)-mediated expression of CFTR in the gut, but not the airways, prevents the intestinal disease of the CF knockout mouse...
  48. Xu Z, Gupta V, Lei D, Holmes A, Carlson E, Gruenert D. In-frame elimination of exon 10 in Cftrtm1Unc CF mice. Gene. 1998;211:117-23 pubmed
    ..In the present study, CFTR mRNA expression was examined in different tissues from one CF mouse model that contains a disruption in exon 10 ..
  49. Niksic M, Romano M, Buratti E, Pagani F, Baralle F. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet. 1999;8:2339-49 pubmed
    The rate of exon 9 exclusion from the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA is associated with monosymptomatic forms of cystic fibrosis...
  50. Kent G, Oliver M, Foskett J, Frndova H, Durie P, Forstner J, et al. Phenotypic abnormalities in long-term surviving cystic fibrosis mice. Pediatr Res. 1996;40:233-41 pubmed
    Mouse models for cystic fibrosis (CF) with no CFTR function (Cftr-/-) have the disadvantage that most animals die of intestinal obstruction shortly after weaning...
  51. van Doorninck J, French P, Verbeek E, Peters R, Morreau H, Bijman J, et al. A mouse model for the cystic fibrosis delta F508 mutation. EMBO J. 1995;14:4403-11 pubmed
    Most cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transmembrane conductance regulator (CFTR), which is not properly processed in normal cells but is active as a chloride channel in several ..
  52. Zhou L, Dey C, Wert S, DuVall M, Frizzell R, Whitsett J. Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR. Science. 1994;266:1705-8 pubmed
    Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR)...
  53. Zeng W, Lee M, Yan M, Diaz J, Benjamin I, Marino C, et al. Immuno and functional characterization of CFTR in submandibular and pancreatic acinar and duct cells. Am J Physiol. 1997;273:C442-55 pubmed
    Cystic fibrosis results from defective Cl- channel activity mediated by the cystic fibrosis transmembrane conductance regulator (CFTR) gene product...
  54. Bonvin E, Le Rouzic P, Bernaudin J, Cottart C, Vandebrouck C, Crié A, et al. Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice. J Physiol. 2008;586:3231-43 pubmed publisher
    ..that alterations in the extrathoracic airways, particularly in the trachea that expresses high levels of CFTR (CF transmembrane conductance regulator), may contribute to respiratory dysfunction...
  55. Hodges C, Cotton C, Palmert M, Drumm M. Generation of a conditional null allele for Cftr in mice. Genesis. 2008;46:546-52 pubmed publisher
    The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-regulated chloride channel that is important in controlling the exchange of fluid and electrolytes across epithelial cells...
  56. Radtke A, Anderson K, Davis M, DiMagno M, Swanson J, O Riordan M. Listeria monocytogenes exploits cystic fibrosis transmembrane conductance regulator (CFTR) to escape the phagosome. Proc Natl Acad Sci U S A. 2011;108:1633-8 pubmed publisher
    ..Here we show that the cystic fibrosis transmembrane conductance regulator (CFTR) facilitates Listeria cytosolic entry...
  57. Velsor L, Kariya C, Kachadourian R, Day B. Mitochondrial oxidative stress in the lungs of cystic fibrosis transmembrane conductance regulator protein mutant mice. Am J Respir Cell Mol Biol. 2006;35:579-86 pubmed
    ..fibrosis is a fatal genetic disorder involving dysfunction of the cystic fibrosis transmembrane regulator protein (CFTR) resulting in progressive respiratory failure...
  58. Johannesson B, Hirtz S, Schatterny J, Schultz C, Mall M. CFTR regulates early pathogenesis of chronic obstructive lung disease in ?ENaC-overexpressing mice. PLoS ONE. 2012;7:e44059 pubmed publisher
    ..Further, we crossed ?ENaC-Tg mice with CFTR-deficient mice to validate the role of CFTR in early lung disease...
  59. van Heeckeren A, Schluchter M, Drumm M, Davis P. Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. Am J Physiol Lung Cell Mol Physiol. 2004;287:L944-52 pubmed
    Patients with cystic fibrosis have a lesion in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which is associated with abnormal regulation of other ion channels, abnormal glycosylation of secreted and cell surface ..
  60. Meyer M, Huaux F, Gavilanes X, van den Brule S, Lebecque P, Lo Re S, et al. Azithromycin reduces exaggerated cytokine production by M1 alveolar macrophages in cystic fibrosis. Am J Respir Cell Mol Biol. 2009;41:590-602 pubmed publisher
    ..Azithromycin down-regulates inflammatory cytokine production by M1-polarized CF alveolar macrophages...
  61. Grubb B, Boucher R. Pathophysiology of gene-targeted mouse models for cystic fibrosis. Physiol Rev. 1999;79:S193-214 pubmed
    ..Reasons for these unexpected findings are discussed. This paper also reviews pharmacotherapeutic and gene therapeutic studies in the various mouse models...
  62. Manson M, Corey D, White N, Kelley T. cAMP-mediated regulation of cholesterol accumulation in cystic fibrosis and Niemann-Pick type C cells. Am J Physiol Lung Cell Mol Physiol. 2008;295:L809-19 pubmed publisher
    ..Both CFTR activation and expression are regulated by the cAMP pathway, and it is hypothesized that a feedback response ..
  63. Charizopoulou N, Jansen S, Dorsch M, Stanke F, Dorin J, Hedrich H, et al. Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model. BMC Genet. 2004;5:6 pubmed
    ..to bypass this time consuming procedure we devised an alternative PCR based protocol whereby mouse strains are differentiated at the Cftr locus by Cftr intragenic microsatellite genotypes that are tightly linked to the disrupted locus.
  64. Grubb B, Gabriel S. Intestinal physiology and pathology in gene-targeted mouse models of cystic fibrosis. Am J Physiol. 1997;273:G258-66 pubmed
    ..Cloning of the gene causing CF was accomplished in 1989, and the protein product, cystic fibrosis transmembrane conductance regulator (CFTR), has been conclusively shown to be an adenosine 3',5'-cyclic monophosphate (cAMP)-..
  65. Gawenis L, Hut H, Bot A, Shull G, de Jonge H, Stien X, et al. Electroneutral sodium absorption and electrogenic anion secretion across murine small intestine are regulated in parallel. Am J Physiol Gastrointest Liver Physiol. 2004;287:G1140-9 pubmed
    ..by Na(+)/H(+) exchanger 3 (NHE3) predominates; under stimulated conditions, increased anion secretion mediated by CFTR occurs concurrently with inhibition of Na(+) absorption...
  66. Delaney S, Alton E, Smith S, Lunn D, Farley R, Lovelock P, et al. Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J. 1996;15:955-63 pubmed
    We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure...
  67. Muchekehu R, Quinton P. A new role for bicarbonate secretion in cervico-uterine mucus release. J Physiol. 2010;588:2329-42 pubmed publisher
    ..severely inhibited in the absence of serosal HCO(3)(-), HCO(3)(-) transport, or functional cystic fibrosis transmembrane conductance regulator (CFTR)...
  68. O Neal W, Hasty P, McCray P, Casey B, Rivera Perez J, Welsh M, et al. A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Hum Mol Genet. 1993;2:1561-9 pubmed
    ..Thus, an additional mouse model for CF has been generated that should prove useful for the understanding of the pathogenesis and the development of treatments for CF. ..
  69. Zhao C, Su E, Yang X, Gao Z, Li L, Wu H, et al. Important role of platelets in modulating endotoxin-induced lung inflammation in CFTR-deficient mice. PLoS ONE. 2013;8:e82683 pubmed publisher
    Mutation of CFTR (cystic fibrosis transmembrane conductance regulator) leads to cystic fibrosis (CF). Patients with CF develop abnormalities of blood platelets and recurrent lung inflammation...
  70. Durie P, Kent G, Phillips M, Ackerley C. Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model. Am J Pathol. 2004;164:1481-93 pubmed
    ..We evaluated multiple organs of congenic C57BL/6J cystic fibrosis transmembrane regulator (Cftr)(-/-) and Cftr(+/+) mice maintained from weaning on a liquid diet then sacrificed between 1 and 24 months of age...
  71. Grubb B, Rogers T, Boucher R, Ostrowski L. Ion transport across CF and normal murine olfactory and ciliated epithelium. Am J Physiol Cell Physiol. 2009;296:C1301-9 pubmed publisher
    ..Thus, while the murine CF nasal epithelium is a valuable model for CF studies, the bioelectrics are likely dominated by the signals from the OE, and assays of the nasopharynx may be more specific for studying the ciliated epithelium. ..
  72. Bradford E, Sartor M, Gawenis L, Clarke L, Shull G. Reduced NHE3-mediated Na+ absorption increases survival and decreases the incidence of intestinal obstructions in cystic fibrosis mice. Am J Physiol Gastrointest Liver Physiol. 2009;296:G886-98 pubmed publisher
    In cystic fibrosis, impaired secretion resulting from loss of activity of the cystic fibrosis transmembrane conductance regulator (CFTR) causes dehydration of intestinal contents and life-threatening obstructions...
  73. Snouwaert J, Brigman K, Latour A, Malouf N, Boucher R, Smithies O, et al. An animal model for cystic fibrosis made by gene targeting. Science. 1992;257:1083-8 pubmed
    ..gene encoding a cyclic adenosine monophosphate-dependent chloride ion channel known as the cystic fibrosis transmembrane conductance regulator (CFTR)...
  74. Aeffner F, Abdulrahman B, Hickman Davis J, Janssen P, Amer A, Bedwell D, et al. Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity. J Infect Dis. 2013;208:780-9 pubmed publisher
    ..Influenza stimulates respiratory epithelial Cl(-) secretion via the cystic fibrosis transmembrane conductance regulator (CFTR)...
  75. Freudenberg F, Leonard M, Liu S, Glickman J, Carey M. Pathophysiological preconditions promoting mixed "black" pigment plus cholesterol gallstones in a DeltaF508 mouse model of cystic fibrosis. Am J Physiol Gastrointest Liver Physiol. 2010;299:G205-14 pubmed publisher
    ..This is an initial step toward unraveling the molecular basis of CF gallstone disease and constitutes a framework for investigating animal models of CF with more severe biliary disease, as well as the human disease...
  76. Davidson D, Dorin J, McLachlan G, Ranaldi V, Lamb D, Doherty C, et al. Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens. Nat Genet. 1995;9:351-7 pubmed
  77. Peter B, Lidington D, Harada A, Bolz H, Vogel L, Heximer S, et al. Role of sphingosine-1-phosphate phosphohydrolase 1 in the regulation of resistance artery tone. Circ Res. 2008;103:315-24 pubmed publisher
    ..Inhibition of the cystic fibrosis transmembrane regulator (CFTR) (1) restored S1P responses that were attenuated by SPP1(wt) overexpression; (2) enhanced myogenic vasoconstriction;..
  78. Chen H, Liu L, Ye L, McGuckin C, Tamowski S, Scowen P, et al. Targeted inactivation of cystic fibrosis transmembrane conductance regulator chloride channel gene prevents ischemic preconditioning in isolated mouse heart. Circulation. 2004;110:700-4 pubmed
    ..In this study, we tested whether the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channels, which are expressed in the heart and activated by protein kinase ..