Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation | ClinVar | PMID:8844211 more ... | autosomal recessive congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation | ClinVar | PMID:29178639 more ... | autosomal recessive congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation | ClinVar | PMID:16963320 more ... | autosomal recessive congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation | ClinVar | PMID:23276700 more ... | autosomal recessive congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation | ClinVar | PMID:10077727 more ... | azoospermia | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Obstructive azoospermia | ClinVar | PMID:25735457 more ... | azoospermia | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Obstructive azoospermia | ClinVar | PMID:10103316 more ... | Breast Neoplasms | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Breast neoplasm | ClinVar | PMID:10925568 more ... | bronchiectasis | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | PMID:10103316 more ... | bronchiectasis | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | PMID:20667826 more ... | bronchiectasis | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | PMID:28608624 more ... | bronchiectasis 1 | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:9003498 more ... | bronchiectasis 1 | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:26581802 more ... | bronchiectasis 1 | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:19550280 more ... | bronchiectasis 1 | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:10103316 more ... | congenital bilateral absence of vas deferens | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens | ClinVar | PMID:10762539 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:26075876 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:14685259 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:30450785 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:22427236 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:18455968 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:10026154 more ... | cystic fibrosis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:7534226 more ... | duodenal atresia | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Duodenal stenosis | ClinVar | PMID:10103316 more ... | genetic disease | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10103316 more ... | genetic disease | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:32773111 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:23381846 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:10026154 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:17035430 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:29327948 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:9272738 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:9239681 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:23405520 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:10026154 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:29484681 more ... | Hereditary Pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:17048214 more ... | infertility | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Infertility | ClinVar | PMID:10439967 more ... | lung disease | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Lung disease, non-specific | ClinVar | PMID:10445602 more ... | male infertility | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Male infertility | ClinVar | PMID:11547256 more ... | megacolon | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | Nuchal Bleb, Familial | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Fetal cystic hygroma | ClinVar | PMID:12815607 more ... | pancreatitis | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:10103316 more ... | pleomorphic xanthoastrocytoma | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | renal cell carcinoma | | ISO | RGD:619566 | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | Renal Cell Carcinoma 1 | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Renal cell carcinoma 1 | ClinVar | PMID:28492532 | schizophrenia | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | | Y-linked spermatogenic failure 2 | | ISO | RGD:619566 | 8554872 | ClinVar Annotator: match by term: Spermatogenic failure more ... | ClinVar | PMID:11280952 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity. | Aeffner F, etal., J Infect Dis. 2013 Sep 1;208(5):780-9. doi: 10.1093/infdis/jit251. Epub 2013 Jun 7. |
| 2. | Involvement of cystic fibrosis transmembrane conductance regulator (CFTR) in the pathogenesis of hydrosalpinx induced by Chlamydia trachomatis infection. | Ajonuma LC, etal., J Obstet Gynaecol Res. 2008 Dec;34(6):923-30. doi: 10.1111/j.1447-0756.2008.00826.x. |
| 3. | Estrogen-induced abnormally high cystic fibrosis transmembrane conductance regulator expression results in ovarian hyperstimulation syndrome. | Ajonuma LC, etal., Mol Endocrinol. 2005 Dec;19(12):3038-44. Epub 2005 Jul 28. |
| 4. | A novel small molecule CFTR inhibitor attenuates HCO3- secretion and duodenal ulcer formation in rats. | Akiba Y, etal., Am J Physiol Gastrointest Liver Physiol. 2005 Oct;289(4):G753-9. Epub 2005 May 19. |
| 5. | Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. | Amaral MD, etal., J Med Genet. 2001 Nov;38(11):777-83. |
| 6. | Subcellular distribution of CFTR in rat intestine supports a physiologic role for CFTR regulation by vesicle traffic. | Ameen NA, etal., Histochem Cell Biol 2000 Sep;114(3):219-28. |
| 7. | Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. | Andrieux J, etal., Clin Genet. 2002 Jul;62(1):60-7. |
| 8. | Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. | Banales JM, etal., Am J Pathol. 2008 Dec;173(6):1637-46. Epub 2008 Nov 6. |
| 9. | Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice. | Bonvin E, etal., J Physiol. 2008 Jul 1;586(13):3231-43. Epub 2008 May 1. |
| 10. | Non-classic cystic fibrosis associated with D1152H CFTR mutation. | Burgel PR, etal., Clin Genet. 2010 Apr;77(4):355-64. Epub 2009 Oct 15. |
| 11. | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. | Casals T, etal., Hum Genet. 1997 Dec;101(3):365-70. |
| 12. | Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis. | Chang YT, etal., Clin Chem. 2008 Jan;54(1):131-8. Epub 2007 Nov 2. |
| 13. | Cystic fibrosis transmembrane conductance regulator regulates epithelial cell response to Aspergillus and resultant pulmonary inflammation. | Chaudhary N, etal., Am J Respir Crit Care Med. 2012 Feb 1;185(3):301-10. doi: 10.1164/rccm.201106-1027OC. Epub 2011 Dec 1. |
| 14. | Cryptorchidism-induced CFTR down-regulation results in disruption of testicular tight junctions through up-regulation of NF-kappaB/COX-2/PGE2. | Chen J, etal., Hum Reprod. 2012 Sep;27(9):2585-97. doi: 10.1093/humrep/des254. Epub 2012 Jul 9. |
| 15. | Cystic fibrosis genotype and assessing rates of decline in pulmonary status. | Cleveland RH, etal., Radiology. 2009 Dec;253(3):813-21. |
| 16. | Pathophysiologic consequences following inhibition of a CFTR-dependent developmental cascade in the lung. | Cohen JC and Larson JE, BMC Dev Biol. 2005 Feb 4;5:2. |
| 17. | Familial clustering of pulmonary nontuberculous mycobacterial disease. | Colombo RE, etal., Chest. 2010 Mar;137(3):629-34. Epub 2009 Oct 26. |
| 18. | A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice. | Cormet-Boyaka E, etal., FASEB J. 2009 Nov;23(11):3743-51. Epub 2009 Jul 20. |
| 19. | Genetic and biochemical markers of obstructive lung disease in the general population. | Dahl M Clin Respir J. 2009 Apr;3(2):121-2. |
| 20. | Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. | Daudin M, etal., Fertil Steril. 2000 Dec;74(6):1164-74. |
| 21. | Role for cystic fibrosis transmembrane conductance regulator protein in a glutathione response to bronchopulmonary pseudomonas infection. | Day BJ, etal., Infect Immun. 2004 Apr;72(4):2045-51. doi: 10.1128/iai.72.4.2045-2051.2004. |
| 22. | Thyroid hormones stimulate renal expression of CFTR. | de Andrade Pinto AC, etal., Cell Physiol Biochem. 2007;20(1-4):83-90. |
| 23. | Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. | Dean M, etal., Cell. 1990 Jun 1;61(5):863-70. |
| 24. | Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator delta f508. | DeCarvalho AC, etal., J Biol Chem 2002 Sep 27;277(39):35896-905. Epub 2002 Jul 10. |
| 25. | The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. | Dickinson P, etal., Hum Mol Genet 2002 Feb 1;11(3):243-51. |
| 26. | High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. | Divac A, etal., J Cyst Fibros. 2004 Aug;3(3):189-91. |
| 27. | A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. | Dork T, etal., Hum Genet. 1992 Nov;90(3):279-84. |
| 28. | Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. | Dork T, etal., Hum Genet. 1997 Sep;100(3-4):365-77. |
| 29. | Characterization of two rat models of cystic fibrosis-KO and F508del CFTR-Generated by Crispr-Cas9. | Dreano E, etal., Animal Model Exp Med. 2019 Nov 25;2(4):297-311. doi: 10.1002/ame2.12091. eCollection 2019 Dec. |
| 30. | Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. | el-Harith EA, etal., J Med Genet. 1997 Dec;34(12):996-9. |
| 31. | A cystic fibrosis mutation associated with mild lung disease. | Gan KH, etal., N Engl J Med. 1995 Jul 13;333(2):95-9. |
| 32. | Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. | Gasparini P, etal., J Med Genet. 1992 Aug;29(8):558-62. |
| 33. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 34. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 35. | Denopamine stimulates alveolar fluid clearance via cystic fibrosis transmembrane conductance regulator in rat lungs. | Gu X, etal., Respirology. 2006 Sep;11(5):566-71. |
| 36. | Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. | Hamosh A, etal., Am J Hum Genet. 1992 Aug;51(2):245-50. |
| 37. | A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. | Hergersberg M, etal., Hum Genet. 1997 Aug;100(2):220-3. |
| 38. | A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. | Highsmith WE, etal., N Engl J Med. 1994 Oct 13;331(15):974-80. |
| 39. | Roles of CLCA and CFTR in electrolyte re-absorption from rat saliva. | Ishibashi K, etal., J Dent Res. 2006 Dec;85(12):1101-5. |
| 40. | Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis. | Jang MA, etal., J Hum Genet. 2013 May;58(5):298-303. doi: 10.1038/jhg.2013.19. Epub 2013 Mar 21. |
| 41. | Aquaporin-9 is expressed in rat Sertoli cells and interacts with the cystic fibrosis transmembrane conductance regulator. | Jesus TT, etal., IUBMB Life. 2014 Sep;66(9):639-44. doi: 10.1002/iub.1312. Epub 2014 Oct 1. |
| 42. | Characteristics of Cl- uptake in rat alveolar type I cells. | Johnson M, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Nov;297(5):L816-27. Epub 2009 Aug 14. |
| 43. | A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. | Kalin N, etal., Hum Mutat. 1992;1(3):204-10. |
| 44. | Cystic fibrosis transmembrane conductance regulators (CFTR) in biliary epithelium of patients with hepatolithiasis. | Kim HJ, etal., Dig Dis Sci. 2002 Aug;47(8):1758-65. doi: 10.1023/a:1016488327019. |
| 45. | Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. | Kim RD, etal., Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. Epub 2008 Aug 14. |
| 46. | Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. | Kolesar P, etal., Gen Physiol Biophys. 2008 Dec;27(4):299-305. |
| 47. | Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese. | Kondo S, etal., Am J Physiol Gastrointest Liver Physiol. 2015 Aug 15;309(4):G260-9. doi: 10.1152/ajpgi.00015.2014. Epub 2015 Jun 18. |
| 48. | Detection of CFTR gene mutations in patients suffering from chronic bronchitis. | Kostuch M, etal., Arch Med Res. 2000 Jan-Feb;31(1):97-100. |
| 49. | Expression and functional characterization of CFTR in mast cells. | Kulka M, etal., J Leukoc Biol. 2002 Jan;71(1):54-64. |
| 50. | Differential regulation of cystic fibrosis transmembrane conductance regulator by interferon gamma in mast cells and epithelial cells. | Kulka M, etal., J Pharmacol Exp Ther. 2005 Nov;315(2):563-70. Epub 2005 Jul 28. |
| 51. | Reduced expression of the cystic fibrosis transmembrane conductance regulator gene in the hypothalamus of patients with Alzheimer's disease. | Lahousse SA, etal., J Alzheimers Dis. 2003 Dec;5(6):455-62. |
| 52. | Staphylococcus aureus Survives in Cystic Fibrosis Macrophages, Forming a Reservoir for Chronic Pneumonia. | Li C, etal., Infect Immun. 2017 Apr 21;85(5). pii: IAI.00883-16. doi: 10.1128/IAI.00883-16. Print 2017 May. |
| 53. | Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk. | Li Y, etal., Lung Cancer. 2010 Oct;70(1):14-21. doi: 10.1016/j.lungcan.2010.01.005. Epub 2010 Feb 8. |
| 54. | Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in greek patients. | Makrythanasis P, etal., Genet Test Mol Biomarkers. 2010 Aug;14(4):577-84. |
| 55. | Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. | Marchand E, etal., Chest. 2001 Mar;119(3):762-7. |
| 56. | Evolution of CFTR protein distribution in lung tissue from normal and CF human fetuses. | Marcorelles P, etal., Pediatr Pulmonol. 2007 Nov;42(11):1032-40. |
| 57. | Cystic fibrosis transmembrane conductance regulator in the endolymphatic sac of the rat. | Matsubara A, etal., Auris Nasus Larynx. 2014 Oct;41(5):409-12. doi: 10.1016/j.anl.2014.02.005. Epub 2014 Mar 2. |
| 58. | CFTR genotype as a predictor of prognosis in cystic fibrosis. | McKone EF, etal., Chest. 2006 Nov;130(5):1441-7. |
| 59. | G551D CF mice display an abnormal host response and have impaired clearance of Pseudomonas lung disease. | McMorran BJ, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Sep;281(3):L740-7. |
| 60. | Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma. | McWilliams R, etal., Gut. 2005 Nov;54(11):1661-2. |
| 61. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 62. | Lubiprostone stimulates duodenal bicarbonate secretion in rats. | Mizumori M, etal., Dig Dis Sci. 2009 Oct;54(10):2063-9. Epub 2009 Aug 6. |
| 63. | Cystic fibrosis transmembrane conductance regulator protein expression in brain. | Mulberg AE, etal., Neuroreport. 1994 Aug 15;5(13):1684-8. |
| 64. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 65. | Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. | Ngiam NS, etal., J Cyst Fibros. 2006 Aug;5(3):159-64. Epub 2006 Mar 6. |
| 66. | Atrial natriuretic peptide modulates cystic fibrosis transmembrane conductance regulator chloride channel expression in rat proximal colon and human intestinal epithelial cells. | Novaira HJ, etal., J Endocrinol. 2006 Apr;189(1):155-65. |
| 67. | Bicarbonate secretion by rat bile duct brush cells indicated by immunohistochemical localization of CFTR, anion exchanger AE2, Na+/HCO3 -cotransporter, carbonic anhydrase II, Na+/H+ exchangers NHE1 and NHE3, H+/K+-ATPase, and Na+/K+-ATPase. | Ogata T Med Mol Morphol. 2006 Mar;39(1):44-8. |
| 68. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 69. | Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. | Osborne L, etal., Hum Genet. 1992 Aug;89(6):653-8. |
| 70. | Osteopenia in Cftr-deltaF508 mice. | Paradis J, etal., J Cyst Fibros. 2010 Jul;9(4):239-45. doi: 10.1016/j.jcf.2010.05.001. Epub 2010 May 31. |
| 71. | Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. | Piepoli A, etal., World J Gastroenterol. 2006 Oct 21;12(39):6343-8. |
| 72. | Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. | Pignatti PF, etal., Hum Mol Genet. 1995 Apr;4(4):635-9. |
| 73. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 74. | Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. | Raman V, etal., Pediatrics. 2002 Jan;109(1):E13. |
| 75. | Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. | Ravnik-Glavac M, etal., Pflugers Arch. 2000;439(3 Suppl):R53-5. |
| 76. | GOA pipeline | RGD automated data pipeline |
| 77. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 78. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 79. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 80. | Expression and function of cystic fibrosis transmembrane conductance regulator in rat intrapulmonary arteries. | Robert R, etal., Eur Respir J. 2007 Nov;30(5):857-64. Epub 2007 Jun 27. |
| 81. | Transgenic cystic fibrosis mice exhibit reduced early clearance of Pseudomonas aeruginosa from the respiratory tract. | Schroeder TH, etal., J Immunol. 2001 Jun 15;166(12):7410-8. doi: 10.4049/jimmunol.166.12.7410. |
| 82. | Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa. | Sharma S, etal., J Mol Histol. 2018 Apr;49(2):195-208. doi: 10.1007/s10735-018-9759-2. Epub 2018 Feb 16. |
| 83. | Increased expression of cystic fibrosis transmembrane conductance regulator in rat liver after common bile duct ligation. | Shen H, etal., J Cell Physiol. 2005 Jun;203(3):599-603. |
| 84. | Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. | Sheth S, etal., Hum Genet. 2003 Aug;113(3):286-92. doi: 10.1007/s00439-003-0963-z. Epub 2003 Jun 3. |
| 85. | Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. | Shoshani T, etal., Am J Hum Genet. 1992 Jan;50(1):222-8. |
| 86. | An animal model for cystic fibrosis made by gene targeting. | Snouwaert JN, etal., Science. 1992 Aug 21;257(5073):1083-8. |
| 87. | Cystic fibrosis transmembrane conductance regulator deficiency exacerbates islet cell dysfunction after beta-cell injury. | Stalvey MS, etal., Diabetes. 2006 Jul;55(7):1939-45. |
| 88. | Reduced bone length, growth plate thickness, bone content, and IGF-I as a model for poor growth in the CFTR-deficient rat. | Stalvey MS, etal., PLoS One. 2017 Nov 30;12(11):e0188497. doi: 10.1371/journal.pone.0188497. eCollection 2017. |
| 89. | The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population. | Stankovic M, etal., Genet Test. 2008 Sep;12(3):357-62. |
| 90. | Genomewide association analysis of respiratory syncytial virus infection in mice. | Stark JM, etal., J Virol. 2010 Mar;84(5):2257-69. Epub 2009 Dec 16. |
| 91. | The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. | Thauvin-Robinet C, etal., J Med Genet. 2009 Nov;46(11):752-8. Epub 2009 Jun 29. |
| 92. | Expression and regulation of the cystic fibrosis gene during rat liver regeneration. | Tran-Paterson R, etal., Am J Physiol. 1992 Jul;263(1 Pt 1):C55-60. |
| 93. | Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats. | Tuggle KL, etal., PLoS One. 2014 Mar 7;9(3):e91253. doi: 10.1371/journal.pone.0091253. eCollection 2014. |
| 94. | Protective role of cardiac CFTR activation upon early reperfusion against myocardial infarction. | Uramoto H, etal., Cell Physiol Biochem. 2012;30(4):1023-38. doi: 10.1159/000341479. Epub 2012 Sep 20. |
| 95. | Ischemia-induced enhancement of CFTR expression on the plasma membrane in neonatal rat ventricular myocytes. | Uramoto H, etal., Jpn J Physiol. 2003 Oct;53(5):357-65. |
| 96. | Cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel and Na-K-Cl cotransporter NKCC1 isoform mediate the vasorelaxant action of genistein in isolated rat aorta. | Valero MS, etal., Eur J Pharmacol. 2006 Aug 21;544(1-3):126-31. Epub 2006 Jun 28. |
| 97. | Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). | van de Vosse E, etal., Hum Genet. 2005 Oct;118(1):138-40. doi: 10.1007/s00439-005-0005-0. Epub 2005 Oct 28. |
| 98. | Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. | Varon R, etal., Hum Mutat. 1995;6(3):219-25. |
| 99. | Independent amplification of two gene clusters on chromosome 4 in rat endometrial cancer: identification and molecular characterization. | Walentinsson A, etal., Cancer Res 2001 Nov 15;61(22):8263-73. |
| 100. | A dual-color FISH gene map of the proximal region of rat Chromosome 4 and comparative analysis in human and mouse. | Walentinsson A, etal., Mamm Genome 2001 Dec;12(12):900-8. |
| 101. | Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. | Wang X, etal., Arch Otolaryngol Head Neck Surg. 2005 Mar;131(3):237-40. |
| 102. | Subcellular localization of CFTR to endosomes in a ductal epithelium. | Webster P, etal., Am J Physiol. 1994 Aug;267(2 Pt 1):C340-8. |
| 103. | [Effects of weile powder on bicarbonate transporters CFTR SLC26A3 and SLC26A6 in gastric ulcers of rats]. | Wen GR, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 Jan;33(1):81-4. |
| 104. | Down-regulated CFTR During Aging Contributes to Benign Prostatic Hyperplasia. | Xie C, etal., J Cell Physiol. 2015 Aug;230(8):1906-15. doi: 10.1002/jcp.24921. |
| 105. | Homocysteine activates autophagy by inhibition of CFTR expression via interaction between DNA methylation and H3K27me3 in mouse liver. | Yang A, etal., Cell Death Dis. 2018 Feb 7;9(2):169. doi: 10.1038/s41419-017-0216-z. |
| 106. | A mouse model for the delta F508 allele of cystic fibrosis. | Zeiher BG, etal., J Clin Invest. 1995 Oct;96(4):2051-64. |
| 107. | Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) prevents apoptosis induced by hydrogen peroxide in basilar artery smooth muscle cells. | Zeng JW, etal., Apoptosis. 2014 Sep;19(9):1317-29. doi: 10.1007/s10495-014-1014-z. |
| 108. | Small-molecule inhibitors of the cystic fibrosis transmembrane conductance regulator increase pancreatic endocrine cell development in rat and mouse. | Zertal-Zidani S, etal., Diabetologia. 2013 Feb;56(2):330-9. doi: 10.1007/s00125-012-2778-8. Epub 2012 Nov 24. |
Additional References at PubMed
| PMID:1282491 | PMID:7526924 | PMID:8910473 | PMID:9100367 | PMID:9792704 | PMID:11524016 | PMID:11707463 | PMID:11937500 | PMID:12403779 | PMID:12801959 | PMID:14679199 | PMID:15010471 |
| PMID:15020588 | PMID:15107294 | PMID:15247260 | PMID:15872007 | PMID:16207813 | PMID:16311240 | PMID:16537650 | PMID:17085523 | PMID:17194447 | PMID:17462998 | PMID:17546509 | PMID:17916355 |
| PMID:18040894 | PMID:18055461 | PMID:18057956 | PMID:18156603 | PMID:18337312 | PMID:18420826 | PMID:18570918 | PMID:18584958 | PMID:18652671 | PMID:18769035 | PMID:18850051 | PMID:19019741 |
| PMID:19033647 | PMID:19244346 | PMID:19398555 | PMID:19621064 | PMID:20231442 | PMID:20351096 | PMID:20658517 | PMID:20819945 | PMID:20844248 | PMID:20974851 | PMID:21063094 | PMID:21151921 |
| PMID:21185916 | PMID:21308994 | PMID:21625623 | PMID:21884936 | PMID:21976599 | PMID:22006324 | PMID:22178883 | PMID:22293084 | PMID:22424353 | PMID:23226244 | PMID:23226939 | PMID:23376485 |
| PMID:23645634 | PMID:24095207 | PMID:24657265 | PMID:24770751 | PMID:24885604 | PMID:25747701 | PMID:26018621 | PMID:26529183 | PMID:28067262 | PMID:28130590 | PMID:28825630 | PMID:29761302 |
| PMID:29979606 | PMID:30659401 | PMID:31622498 | PMID:32386453 | PMID:32726160 | PMID:33264332 | PMID:33571554 | PMID:33926975 | PMID:35126637 | PMID:35266910 | PMID:35676569 |
Genomics
Comparative Map Data
| Cftr (Rattus norvegicus - Norway rat) |
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| CFTR (Homo sapiens - human) |
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| Cftr (Mus musculus - house mouse) |
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| Cftr (Chinchilla lanigera - long-tailed chinchilla) |
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| CFTR (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CFTR (Canis lupus familiaris - dog) |
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| Cftr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CFTR (Sus scrofa - pig) |
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| CFTR (Chlorocebus sabaeus - green monkey) |
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| Cftr (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cftr
622 total Variants 
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