Citations for
1CF, CFTR
The F508del mutation in cystic fibrosis transmembrane conductance regulator gene impacts bone formation.
Le Henaff C, Gimenez A, Ha E, Marty C, Marie P, Jacquot J.
Am J Pathol 180(5):2068-75. doi: 10.1016/j.ajpath.2012.01.039. Epub 2012 Mar 23. 2012
2CF, CFTR
Human cystic fibrosis airway epithelia have reduced Cl- conductance but not increased Na+ conductance.
Itani OA, Chen JH, Karp PH, Ernst S, Keshavjee S, Parekh K, Klesney-Tait J, Zabner J, Welsh MJ.
Proc Natl Acad Sci U S A 108(25):10260-5. Epub 2011 Jun 6. 2011
3CF
Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.
Stanke F, Davenport C, Hedtfeld S, Tmmler B.
Eur J Hum Genet 18(5):553-9. Epub 2010 Jan 6.PMID: 20051989 2010
4CF, HDAC7
Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis.
Hutt DM, Herman D, Rodrigues AP, Noel S, Pilewski JM, Matteson J, Hoch B, Kellner W, Kelly JW, Schmidt A, Thomas PJ, Matsumura Y, Skach WR, Gentzsch M, Riordan JR, Sorscher EJ, Okiyoneda T, Yates JR 3rd, Lukacs GL, Frizzell RA, Manning G, Gottesfeld JM, Balch WE.
Nat Chem Biol 6(1):25-33. Epub 2009 Dec 6.PMID: 19966789 2010
5CF, HDAC7
HDAC7: a viable target in the treatment of cystic fibrosis.
Franciosi S.
Clin Genet 77(6):536-8. Epub 2010 Mar 1. No abstract available. PMID: 20236113 2010
6CF, CFTR
Peripheral protein quality control removes unfolded CFTR from the plasma membrane.
Okiyoneda T, Barrire H, Bagdny M, Rabeh WM, Du K, Hhfeld J, Young JC, Lukacs GL.
Science 329(5993):805-10. Epub 2010 Jul 1. 2010
7CF, IFRD1
IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function.
Ehrnhoefer DE.
Clin Genet 76(2):148-9. Epub 2009 Aug 7. No abstract available. PMID: 19673948 2009
8CF, CFTR
A Novel Approach to Analyze Gene Expression Data Demonstrates that the {Delta}F508 Mutation in CFTR Down Regulates the Antigen Presentation Pathway.
Hampton TH, Stanton BA.
Am J Physiol Lung Cell Mol Physiol m J Physiol Lung Cell Mol Physiol. 2009 Dec 31. [Epub ahead of print] 2009
9CF, CFTR
Cystic Fibrosis-Related Diabetes: From CFTR Dysfunction to Oxidative Stress.
Ntimbane T, Comte B, Mailhot G, Berthiaume Y, Poitout V, Prentki M, Rabasa-Lhoret R, Levy E.
Clin Biochem Rev 30(4):153-77. 2009
10CF, CFTR
The cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in maturation stage ameloblasts, odontoblasts and bone cells.
Bronckers A, Kalogeraki L, Jorna HJ, Wilke M, Bervoets TJ, Lyaruu DM, Zandieh-Doulabi B, Denbesten P, de Jonge H.
Bone one. 2009 Dec 29. [Epub ahead of print] 2009
11CF, CFTR
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Fa V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC.
J Biol Chem 284(44):30024-31. Epub 2009 Sep 15. 2009
12CF, CFTR
Emerging treatments in cystic fibrosis.
Jones AM, Helm JM.
Drugs 69(14):1903-10. doi: 10.2165/11318500-000000000-00000. 2009
13CF, CFTR
Disease-causing mutations in the cystic fibrosis transmembrane conductance regulator determine the functional responses of alveolar macrophages.
Deriy LV, Gomez EA, Zhang G, Beacham DW, Hopson JA, Gallan AJ, Shevchenko PD, Bindokas VP, Nelson DJ.
J Biol Chem 284(51):35926-38. Epub .PMID: 19837664 2009
14CF, CFTR
Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease.
Pasyk S, Li C, Ramjeesingh M, Bear CE.
Biochem J 418(1):185-90. 2009
15CF, CFTR
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
Tamburino L, Guglielmino A, Venti E, Chamayou S.
Reprod Biomed Online 17(1):27-35. 2008
16CFTR, CF, CBAVD
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Ferec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguenes O, Cooper DN, Audrezet MP, Chen JM.
Eur J Hum Genet 14(5):567-76. 2006
17CF, SCNN1B, SCNN1G, TNFRSF1A
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
Stanke F, Becker T, Cuppens H, Kumar V, Cassiman JJ, Jansen S, Radojkovic D, Siebert B, Yarden J, Ussery DW, Wienker TF, Tummler B.
Hum Genet 119(3):331-43. Epub 2006 Feb 4. 2006
18CF
Gene therapy for children with cystic fibrosis--who has the right to choose?
Jaffe A, Prasad SA, Larcher V, Hart S.
J Med Ethics 32(6):361-4. No abstract available. 2006
19AHSA1, AHSA2, CF
Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis.
Wang X, Venable J, LaPointe P, Hutt DM, Koulov AV, Coppinger J, Gurkan C, Kellner W, Matteson J, Plutner H, Riordan JR, Kelly JW, Yates JR 3rd, Balch WE.
Cell 127(4):803-15. 2006
20CF, TGFB1
Genetic modifiers of lung disease in cystic fibrosis.
Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR; Gene Modifier Study Group.
N Engl J Med 353(14):1443-53. 2005
21CFTR, CF, CBAVD
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR.
Am J Hum Genet 74(1):176-9. Epub 2003 Dec 18. 2004
22CFTR, CF, CBAVD
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW.
Genet Med 6(5):387-91. No abstract available. Erratum in: Genet Med. 2004 Nov-Dec;6(6):548. Genet Med. 2005 Apr;7(4):286. 2004
23CF
Factors influencing outcomes in cystic fibrosis: a center-based analysis.
Johnson C, Butler SM, Konstan MW, Morgan W, Wohl ME.
Chest 123(1):20-7. 2003
24CFTR, CF
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
McKone EF, Emerson SS, Edwards KL, Aitken ML.
Lancet 361(9370):1671-6. 2003
25CFTR, CF, DNAJB6
The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70.
Farinha CM, Nogueira P, Mendes F, Penque D, Amaral MD.
Biochem J 366(Pt 3):797-806. 2002
26CF, CBAVD
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.
N Engl J Med 347(6):401-7. 2002
27CFTR, CF, CBAVD
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG.
Genet Med 3(2):149-54. No abstract available. 2001
28CFTR, CF, CBAVD
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
Mickle JE, Milewski MI, Macek M Jr, Cutting GR.
Am J Hum Genet 66(5):1485-95. 2000
29CF, CFM1
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC.
Nat Genet 22(2):128-9. No abstract available. 1999
30CBAVD, CFTR, CF
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
Larriba S, et al.
Hum Mol Genet 7 : 1739-1744. 1998
31CF, CFTR
The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10kb C-T mutation.
Chiba-Falek O, et al.
Genomics 53 : 276-283. 1998
32CBAVD, CFTR, CF
Molecular diagnosis of congenital bilateral absence of the vas deferens : analyses of the CFTR gene in 64 French patients.
Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan JC, Beldjord C.
Ann Genet 40(1):5-9. 1997
33CBAVD, CFTR, CF
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR) : correlation between genotype and phenotype.
Dumur V, et al.
Hum Genet 97 : 7-10. 1996
34CF, CFM1
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.
Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Forstner J, Durie P, Nadeau J, Bear C, Tsui LC.
Nat Genet 12(3):280-7. 1996
35CBAVD, CFTR, CF
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
Chillon M, et al.
N Engl J Med 332 : 1475-1480. 1995
36CFTR, CBAVD, CF
Is congenital bilateral absence of vas deferens a primary form of cysticfibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B, et al.
Am J Hum Genet 56 : 272-277. 1995
37CF, CFTR
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Drk T, et al.
Hum Mutat 4 : 65-70. 1994
38CF, CFTR
Les mutations de la mucoviscidose : du gnotype au phnotype.
Frec C, et al.
Mdecine/Sciences 10 : 631-639. 1994
39CF, CFTR
Correlation between genotype and phenotype in patients with cystic fibrosis.
Hamosh A, et al.
N Engl J Med 329 : 1308-1313. 1993
40CFTR, CF
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene : 40 different mutations account for 91.2% of the mutant alleles in southern France.
Claustres M, et al.
Hum Mol Genet 2 : 1209-1213. 1993
41CF, CFTR
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.
Costes B, et al.
Hum Mutat 2 : 185-191. 1993
42CF
Cystic fibrosis mutations in French Canadians : three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
Rozen R, et al.
Am J Med Genet 42 : 360-364. 1992
43CF
A nonsense mutation (R1158X) and a splicing mutation (3849+4A-G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.
Ronchetto P, et al.
Genomics 12 : 417-418. 1992
44CF
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, et al.
Am J Hum Genet 50 : 222-228. 1992
45CF
Cystic fibrosis mutations deltaF508 and G542X in Jewish patients.
Lerer I, et al.
J Med Genet 29 : 131-133. 1992
46CF
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.
Drk T, et al.
Hum Genet 88 : 417-425. 1992
47CF
Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.
Graham CA, et al.
Genomics 12 : 854-855. 1992
48CF
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage : analysis of variant splicing and a nonsense mutation.
Jones CT, et al.
Hum Mol Genet 1 : 11-17. 1992
49CF
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
Cutting GR, et al.
Am J Hum Genet 50 : 1185-1194. 1992
50CF
A new mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis.
Claustres M, et al.
Genomics 13 : 907-908. 1992
51CF
Cystic fibrosis patients bearing both the common missense mutation Gly-Asp at codon 551 and deltaF508 mutation are clinically indistinguishable from deltaF508 homozygotes, except for decreased risk of meconium ileus.
Hamosh A, et al.
Am J Hum Genet 51 : 245-250. 1992
52CF
The spectrum of cystic fibrosis mutations.
Tsui LC.
Trends Genet 8 : 392-398. 1992
53CF, CFTR
Delta-F508 mutation of cystic fibrosis gene is not found in chronic bronchitis with severe obstruction in Japan.
Akai S, et al.
Am Rev Respir Dis 146 : 781-783. 1992
54CFTR, CF
Detection of multiple cystic fibrosis mutations by reserve dot blot hybridization : a technology for carrier screening.
Chehab FF, et al.
Hum Genet 89 : 163-168. 1992
55CF, CFTR
Characterization of immortal cystic fibrosis tracheobronchial gland epithelial cells.
Cozens AL, et al.
Proc Natl Acad Sci U S A 89 : 5171-5175. 1992
56CF, CFTR
Genotype analysis for deltaF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.
Duthie A, et al.
Hepatology 15 : 660-664. 1992
57CF, CFTR
CFTR illegimate transcription in lymphoid cells : quantification and applications to the investigation of pathological transcripts.
Fonknechten N, et al.
Hum Genet 88 : 508-512. 1992
58CF
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Morral N, et al.
Hum Genet 88 : 356. 1992
59CF
Cystic Fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Drk T, et al.
Hum Genet 87 : 441-446. 1991
60CF
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
Osborne L, et al.
Am J Hum Genet 48 : 608-612. 1991
61CF
Identification of a cystic fibrosis mutation : deletion of isoleucine 506.
Nelson PV, et al.
Hum Genet 86 : 391-393. 1991
62CF, UPD7M
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
Beaudet AL, et al.
Am J Hum Genet 48 : 1213. 1991
63CF
A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease.
Chalkley G, et al.
J Med Genet 28 : 875-877. 1991
64CF
Two-temperature PCR and heteroduplex detection : application to rapid cystic fibrosis screening.
Dodson LA, et al.
Mol Cell Probes 5 : 21-25. 1991
65CF, CFTR
Cystic fibrosis : relationship between clinical status and F508 deletion.
Campbell PW, et al.
J Pediatr 118 : 239-241. 1991
66CFTR, CF
Association of less common cystic fibrosis mutations with a mild phenotype.
Curtis A, et al.
J Med Genet 28 : 34-37. 1991
67CF, CFTR
Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Friedman KJ, et al.
Clin Chem 37 : 753-755. 1991
68CF
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane condustance regulator (CFTR) gene.
Zielenski J, et al.
Genomics 10 : 229-235. 1991
69CF
Benign missense variations in the cystic fibrosis gene.
Kobayashi K, et al.
Am J Hum Genet 47 : 611-615. 1990
70CF
Multiple mutations in highly conserved residues are found in midly affected cystic fibrosis patients.
Dean M, et al.
Cell 61 : 863-870. 1990
71CF
Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8.
Dean M, et al.
Hum Genet 85 : 275-278. 1990
72CF
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
Cutting GR, et al.
N Engl J Med 323 : 1685-1689. 1990
73CF
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Kerem BS, et al.
Proc Natl Acad Sci U S A 87 : 8447-8451. 1990
74CF, D7S399
The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
Gasparini P, et al.
J Med Genet 27 : 17-20. 1990
75CF
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes.
Mornet E, et al.
Clin Genet 35 : 81-87. 1989
76CF, TRB@
T cell receptor beta chain polymorphims are associated with cystic fibosis.
McMillan SA, et al.
J Med Genet 26 : 431-433. 1989
77CF
Isodisomy of chromosome 7 in a patient with cystic fibrosis : could uniparental disomy be common in humans?
Voss R, et al.
Am J Hum Genet 45 : 373-380. 1989
78CF, CFM1
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.
Kerem B, et al.
Am J Hum Genet 44 : 827-834. 1989
79CF
Familial concordance of pancreatic function in cystic fibrosis.
Corey M, et al.
J Pediatr 115 : 274-277. 1989
80CF, CFTR
Genetic analysis of DNA from single human oocytes : a model for preimplantation diagnosis of cystic fibrosis.
Coutelle C, et al.
Br Med J 299 : 22-24. 1989
81CF
Crossover detection and prenatal diagnosis in CF-families from the German Democratic Republic by application of molecular probes.
Coutelle C, et al.
(HGM9) Cytogenet Cell Genet 46 : 599. 1987
82CF
Cystic fibrosis - a single locus disease ? Results of a population genetics study.
Gedschold J, et al.
Hum Genet 75 : 277-280. 1987