Citations for
1CFTR, DNAJA1, DNAJA2, HSPA4, HSPA8, STUB1
Hsp70 and DNAJA2 limit CFTR levels through degradation.
Kim Chiaw P, Hantouche C, Wong MJH, Matthes E, Robert R, Hanrahan JW, Shrier A, Young JC.
PLoS One 14(8):e0220984. doi: 10.1371/journal.pone.0220984. eCollection 2019. 2019
2CFTR, KRT8
New insights into interactions between the nucleotide-binding domain of CFTR and keratin 8.
Premchandar A, Kupniewska A, Bonna A, Faure G, Fraczyk T, Roldan A, Hoffmann B, Faria da Cunha M, Herrmann H, Lukacs GL, Edelman A, Dadlez M.
Protein Sci 26(2):343-354. doi: 10.1002/pro.3086. 2017
3CFTR, SLC9A3
Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.
Wang YY, Lin YH, Wu YN, Chen YL, Lin YC, Cheng CY, Chiang HS.
PLoS Genet 13(4):e1006715. doi: 10.1371/journal.pgen.1006715. eCollection 2017 Apr. 2017
4CFTR, MARCH2
MARCH2 regulates autophagy by promoting CFTR ubiquitination and degradation and PIK3CA-AKT-MTOR signaling.
Xia D, Qu L, Li G, Hongdu B, Xu C, Lin X, Lou Y, He Q, Ma D, Chen Y.
Autophagy 12(9):1614-30. doi: 10.1080/15548627.2016.1192752. Epub 2016 Jun 16. 2016
5CFTR, TRADD
CFTR Controls the Activity of NF-κB by Enhancing the Degradation of TRADD.
Wang H, Cebotaru L, Lee HW, Yang Q, Pollard BS, Pollard HB, Guggino WB.
Cell Physiol Biochem 40(5):1063-1078. Epub 2016 Dec 14. 2016
6CFTR, RNF5
Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.
Tomati V, Sondo E, Armirotti A, Caci E, Pesce E, Marini M, Gianotti A, Jeon YJ, Cilli M, Pistorio A, Mastracci L, Ravazzolo R, Scholte B, Ronai Z, Galietta LJ, Pedemonte N.
Sci Rep 5:12138. doi: 10.1038/srep12138. 2015
7CFTR, SGK1, SHANK2
Serum- and glucocorticoid-induced protein kinase 1 (SGK1) increases the cystic fibrosis transmembrane conductance regulator (CFTR) in airway epithelial cells by phosphorylating Shank2E protein.
Koeppen K, Coutermarsh BA, Madden DR, Stanton BA.
J Biol Chem 289(24):17142-50. doi: 10.1074/jbc.M114.555599. Epub 2014 May 8. 2014
8CFTR, LMTK2
LMTK2-mediated phosphorylation regulates CFTR endocytosis in human airway epithelial cells.
Luz S, Cihil KM, Brautigan DL, Amaral MD, Farinha CM, Swiatecka-Urban A.
J Biol Chem 289(21):15080-93. doi: 10.1074/jbc.M114.563742. Epub 2014 Apr 11. 2014
9CFTR, SLC26A8
Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia.
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Touré A.
Am J Hum Genet 92(5):760-6. doi: 10.1016/j.ajhg.2013.03.016. Epub 2013 Apr 11. 2013
10CFTR, RNF185, RNF5
RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
El Khouri E, Le Pavec G, Toledano MB, Delaunay-Moisan A.
J Biol Chem 288(43):31177-91. doi: 10.1074/jbc.M113.470500. Epub 2013 Sep 9. 2013
11CFTR, GOPC, MARCH2, STX6
Ubiquitination and degradation of CFTR by the E3 ubiquitin ligase MARCH2 through its association with adaptor proteins CAL and STX6.
Cheng J, Guggino W.
PLoS One 8(6):e68001. doi: 10.1371/journal.pone.0068001. Print 2013. 2013
12CFTR, SLC26A8
The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
Rode B, Dirami T, Bakouh N, Rizk-Rabin M, Norez C, Lhuillier P, Lorès P, Jollivet M, Melin P, Zvetkova I, Bienvenu T, Becq F, Planelles G, Edelman A, Gacon G, Touré A.
Hum Mol Genet 21(6):1287-98. Epub 2011 Nov 25. 2012
13CFTR, YWHAB
Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis.
Liang X, Da Paula AC, Bozóky Z, Zhang H, Bertrand CA, Peters KW, Forman-Kay JD, Frizzell RA.
Mol Biol Cell 23(6):996-1009. Epub 2012 Jan 25. 2012
14CFTR, EZR, SLC9A3R1
NHERF1 and CFTR restore tight junction organisation and function in cystic fibrosis airway epithelial cells: role of ezrin and the RhoA/ROCK pathway.
Castellani S, Guerra L, Favia M, Di Gioia S, Casavola V, Conese M.
Lab Invest 92(11):1527-40. doi: 10.1038/labinvest.2012.123. Epub 2012 Sep 10. 2012
15CFTR
Demonstration of phosphoryl group transfer indicates that the ATP-binding cassette (ABC) transporter cystic fibrosis transmembrane conductance regulator (CFTR) exhibits adenylate kinase activity.
Randak CO, Ver Heul AR, Welsh MJ.
J Biol Chem 287(43):36105-10. doi: 10.1074/jbc.M112.408450. Epub 2012 Sep 4. 2012
16CFTR, NME1
Role of binding and nucleoside diphosphate kinase A in the regulation of the cystic fibrosis transmembrane conductance regulator by AMP-activated protein kinase.
King JD Jr, Lee J, Riemen CE, Neumann D, Xiong S, Foskett JK, Mehta A, Muimo R, Hallows KR.
J Biol Chem 287(40):33389-400. Epub 2012 Aug 6. 2012
17CFTR, MIR138-1
A microRNA network regulates expression and biosynthesis of wild-type and DeltaF508 mutant cystic fibrosis transmembrane conductance regulator.
Ramachandran S, Karp PH, Jiang P, Ostedgaard LS, Walz AE, Fisher JT, Keshavjee S, Lennox KA, Jacobi AM, Rose SD, Behlke MA, Welsh MJ, Xing Y, McCray PB Jr.
Proc Natl Acad Sci U S A 109(33):13362-7. doi: 10.1073/pnas.1210906109. Epub 2012 Aug 1. 2012
18CFTR
Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype.
Gustafsson JK, Ermund A, Ambort D, Johansson ME, Nilsson HE, Thorell K, Hebert H, Sjövall H, Hansson GC.
J Exp Med 209(7):1263-72. doi: 10.1084/jem.20120562. Epub 2012 Jun 18. 2012
19CFTR
Transcriptional networks driving enhancer function in the CFTR gene.
Kerschner JL, Harris A.
Biochem J 446(2):203-12. doi: 10.1042/BJ20120693. 2012
20CFTR
Lymphocyte CFTR promotes epithelial bicarbonate secretion for bacterial killing.
Tang XX, Fok KL, Chen H, Chan KS, Tsang LL, Rowlands DK, Zhang XH, Dong JD, Ruan YC, Jiang X, Yu SS, Chung YW, Chan HC.
J Cell Physiol 227(12):3887-94. doi: 10.1002/jcp.24101. 2012
21CF, CFTR
The F508del mutation in cystic fibrosis transmembrane conductance regulator gene impacts bone formation.
Le Henaff C, Gimenez A, Haÿ 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
22CFTR
Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.
Aleksandrov AA, Kota P, Cui L, Jensen T, Alekseev AE, Reyes S, He L, Gentzsch M, Aleksandrov LA, Dokholyan NV, Riordan JR.
J Mol Biol 419(1-2):41-60. doi: 10.1016/j.jmb.2012.03.001. Epub 2012 Mar 8. 2012
23CFTR
Overexpression of cystic fibrosis transmembrane conductance regulator (CFTR) is associated with human cervical cancer malignancy, progression and prognosis.
Peng X, Wu Z, Yu L, Li J, Xu W, Chan HC, Zhang Y, Hu L.
Gynecol Oncol 125(2):470-6. doi: 10.1016/j.ygyno.2012.02.015. Epub 2012 Feb 21. 2012
24CFTR
CFTR regulation in human airway epithelial cells requires integrity of the actin cytoskeleton and compartmentalized cAMP and PKA activity.
Monterisi S, Favia M, Guerra L, Cardone RA, Marzulli D, Reshkin SJ, Casavola V, Zaccolo M.
J Cell Sci 125(Pt 5):1106-17. doi: 10.1242/jcs.089086. Epub 2012 Feb 2. 2012
25CFTR
Transcriptional regulation of CFTR gene expression.
Gillen AE, Harris A.
Front Biosci (Elite Ed) 4:587-92. Review. 2012
26CBAVD, CFTR
Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities.
Lobna HL, Ali B, Hammadi A.
Andrologia 44 Suppl 1:848-50. doi: 10.1111/j.1439-0272.2011.01250.x. Epub 2011 Dec 22. 2012
27CFTR, MYO1A
Myosin Ia is required for CFTR brush border membrane trafficking and ion transport in the mouse small intestine.
Kravtsov DV, Caputo C, Collaco A, Hoekstra N, Egan ME, Mooseker MS, Ameen NA.
Traffic 13(8):1072-82. doi: 10.1111/j.1600-0854.2012.01368.x. Epub 2012 May 8. 2012
28CFTR, SERP1
Regulation of ENaC biogenesis by the stress response protein SERP1.
Faria D, Lentze N, Almaça J, Luz S, Alessio L, Tian Y, Martins JP, Cruz P, Schreiber R, Rezwan M, Farinha CM, Auerbach D, Amaral MD, Kunzelmann K.
Pflugers Arch 463(6):819-27. doi: 10.1007/s00424-012-1091-1. Epub 2012 Apr 19. 2012
29ABCC4, CFTR
MRP4 and CFTR in the regulation of cAMP and β-adrenergic contraction in cardiac myocytes.
Sellers ZM, Naren AP, Xiang Y, Best PM.
Eur J Pharmacol 681(1-3):80-7. doi: 10.1016/j.ejphar.2012.02.018. Epub 2012 Feb 20. 2012
30CFTR, DAB2
Dab2 is a key regulator of endocytosis and post-endocytic trafficking of the cystic fibrosis transmembrane conductance regulator.
Fu L, Rab A, Tang LP, Rowe SM, Bebok Z, Collawn JF.
Biochem J 441(2):633-43. doi: 10.1042/BJ20111566. 2012
31CFTR, HSPH1
Human heat shock protein 105/110 kDa (Hsp105/110) regulates biogenesis and quality control of misfolded cystic fibrosis transmembrane conductance regulator at multiple levels.
Saxena A, Banasavadi-Siddegowda YK, Fan Y, Bhattacharya S, Roy G, Giovannucci DR, Frizzell RA, Wang X.
J Biol Chem 287(23):19158-70. doi: 10.1074/jbc.M111.297580. Epub 2012 Apr 13. 2012
32CFTR, FKBP8
FK506 binding protein 8 peptidylprolyl isomerase activity manages a late stage of cystic fibrosis transmembrane conductance regulator (CFTR) folding and stability.
Hutt DM, Roth DM, Chalfant MA, Youker RT, Matteson J, Brodsky JL, Balch WE.
J Biol Chem 287(26):21914-25. doi: 10.1074/jbc.M112.339788. Epub 2012 Apr 2. 2012
33CFTR, KRT18
Keratin K18 increases cystic fibrosis transmembrane conductance regulator (CFTR) surface expression by binding to its C-terminal hydrophobic patch.
Duan Y, Sun Y, Zhang F, Zhang WK, Wang D, Wang Y, Cao X, Hu W, Xie C, Cuppoletti J, Magin TM, Wang H, Wu Z, Li N, Huang P.
J Biol Chem 287(48):40547-59. doi: 10.1074/jbc.M112.403584. Epub 2012 Oct 8. 2012
34ANO1, CFTR, IL8
Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia.
Veit G, Bossard F, Goepp J, Verkman AS, Galietta LJ, Hanrahan JW, Lukacs GL.
Mol Biol Cell 23(21):4188-202. doi: 10.1091/mbc.E12-06-0424. Epub 2012 Sep 12. 2012
35CFTR, SLC26A4
Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells.
Garnett JP, Hickman E, Burrows R, Hegyi P, Tiszlavicz L, Cuthbert AW, Fong P, Gray MA.
J Biol Chem 286(47):41069-82. doi: 10.1074/jbc.M111.266734. Epub 2011 Sep 13. 2011
36CFTR, CSNK2A1, SYK
Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.
Luz S, Kongsuphol P, Mendes AI, Romeiras F, Sousa M, Schreiber R, Matos P, Jordan P, Mehta A, Amaral MD, Kunzelmann K, Farinha CM.
Mol Cell Biol 31(22):4392-404. doi: 10.1128/MCB.05517-11. Epub 2011 Sep 19. 2011
37CF, 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
38CFTR, COMMD1
COMMD1-mediated ubiquitination regulates CFTR trafficking.
Drévillon L, Tanguy G, Hinzpeter A, Arous N, de Becdelièvre A, Aissat A, Tarze A, Goossens M, Fanen P.
PLoS One 6(3):e18334. 2011
39CFTR, IL13, IL13RA1
Interleukin-13 (IL-13)/IL-13 receptor alpha1 (IL-13Ralpha1) signaling regulates intestinal epithelial cystic fibrosis transmembrane conductance regulator channel-dependent Cl- secretion.
Wu D, Ahrens R, Osterfeld H, Noah TK, Groschwitz K, Foster PS, Steinbrecher KA, Rothenberg ME, Shroyer NF, Matthaei KI, Finkelman FD, Hogan SP.
J Biol Chem 286(15):13357-69. Epub 2011 Feb 8. 2011
40ANO6, CFTR
Anoctamin 6 is an essential component of the outwardly rectifying chloride channel.
Martins JR, Faria D, Kongsuphol P, Reisch B, Schreiber R, Kunzelmann K.
Proc Natl Acad Sci U S A 108(44):18168-72. doi: 10.1073/pnas.1108094108. Epub 2011 Oct 17. 2011
41ANO1, CFTR
CFTR and TMEM16A are separate but functionally related Cl- channels.
Ousingsawat J, Kongsuphol P, Schreiber R, Kunzelmann K.
Cell Physiol Biochem 28(4):715-24. doi: 10.1159/000335765. Epub 2011 Dec 14. 2011
42CFTR
CFTR expression analysis in human nasal epithelial cells by flow cytometry.
van Meegen MA, Terheggen-Lagro SW, van der Ent CK, Beekman JM.
PLoS One 6(12):e27658. doi: 10.1371/journal.pone.0027658. Epub 2011 Dec 7. 2011
43CFTR, FKBP8
FKBP38 peptidylprolyl isomerase promotes the folding of cystic fibrosis transmembrane conductance regulator in the endoplasmic reticulum.
Banasavadi-Siddegowda YK, Mai J, Fan Y, Bhattacharya S, Giovannucci DR, Sanchez ER, Fischer G, Wang X.
J Biol Chem 286(50):43071-80. doi: 10.1074/jbc.M111.269993. Epub 2011 Oct 26. 2011
44CFTR
Rescue of the mutant CFTR chloride channel by pharmacological correctors and low temperature analyzed by gene expression profiling.
Sondo E, Tomati V, Caci E, Esposito AI, Pfeffer U, Pedemonte N, Galietta LJ.
Am J Physiol Cell Physiol 301(4):C872-85. doi: 10.1152/ajpcell.00507.2010. Epub 2011 Jul 13. 2011
45CFTR
Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia.
Xu WM, Chen J, Chen H, Diao RY, Fok KL, Dong JD, Sun TT, Chen WY, Yu MK, Zhang XH, Tsang LL, Lau A, Shi QX, Shi QH, Huang PB, Chan HC.
PLoS One 6(5):e19120. doi: 10.1371/journal.pone.0019120. Epub 2011 May 9. 2011
46CFTR
ATP hydrolysis-dependent asymmetry of the conformation of CFTR channel pore.
Krasilnikov OV, Sabirov RZ, Okada Y.
J Physiol Sci 61(4):267-78. doi: 10.1007/s12576-011-0144-0. Epub 2011 Apr 3. 2011
47CFTR
Genomic approaches for the discovery of CFTR regulatory elements.
Ott CJ, Harris A.
Transcription 2(1):23-7. doi: 10.4161/trns.2.1.13693. 2011
48CFTR
The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.
Rosenberg MF, O'Ryan LP, Hughes G, Zhao Z, Aleksandrov LA, Riordan JR, Ford RC.
J Biol Chem 286(49):42647-54. doi: 10.1074/jbc.M111.292268. Epub 2011 Sep 19. 2011
49CFTR, RNF5
The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.
Grove DE, Fan CY, Ren HY, Cyr DM.
Mol Biol Cell 22(3):301-14. doi: 10.1091/mbc.E10-09-0760. Epub 2010 Dec 9. 2011
50CFTR
CFTR-mediated halide transport in phagosomes of human neutrophils.
Painter RG, Marrero L, Lombard GA, Valentine VG, Nauseef WM, Wang G.
J Leukoc Biol Leukoc Biol. 2010 Jan 20. [Epub ahead of print] 2010
51CFTR, FLNA
Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.
Playford MP, Nurminen E, Pentikäinen OT, Milgram SL, Hartwig JH, Stossel TP, Nakamura F.
J Biol Chem 285(22):17156-65. Epub 2010 Mar 29. 2010
52CFTR
C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.
Billet A, Melin P, Jollivet M, Mornon JP, Callebaut I, Becq F.
J Biol Chem 285(29):22132-40. Epub 2010 Apr 30.PMID: 20435887 2010
53CFTR, PRSS1, PRSS2, SPINK1
Genetic aspects of pancreatitis.
Whitcomb DC.
Annu Rev Med 61:413-24. Review.PMID: 20059346 2010
54CFTR
Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene.
Gheldof N, Smith EM, Tabuchi TM, Koch CM, Dunham I, Stamatoyannopoulos JA, Dekker J.
Nucleic Acids Res 38(13):4325-36. Epub 2010 Mar 31. 2010
55CELF1, CELF2, CFTR
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.
Dujardin G, Buratti E, Charlet-Berguerand N, Martins de Araujo M, Mbopda A, Le Jossic-Corcos C, Pagani F, Ferec C, Corcos L.
Nucleic Acids Res 38(20):7273-85. Epub 2010 Jul 14. 2010
56CF, CFTR
Peripheral protein quality control removes unfolded CFTR from the plasma membrane.
Okiyoneda T, Barrière H, Bagdány M, Rabeh WM, Du K, Höhfeld J, Young JC, Lukacs GL.
Science 329(5993):805-10. Epub 2010 Jul 1. 2010
57CFTR, SCNN1A
The cystic fibrosis transmembrane conductance regulator impedes proteolytic stimulation of the epithelial Na+ channel.
Gentzsch M, Dang H, Dang Y, Garcia-Caballero A, Suchindran H, Boucher RC, Stutts MJ.
J Biol Chem 285(42):32227-32. Epub 2010 Aug 13. 2010
58CFTR, STX16
Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.
Gee HY, Tang BL, Kim KH, Lee MG.
J Biol Chem 285(46):35519-27. Epub 2010 Sep 8. 2010
59CFTR, STX3
Syntaxin 3 is necessary for cAMP- and cGMP-regulated exocytosis of CFTR: implications for enterotoxigenic diarrhea.
Collaco A, Marathe J, Kohnke H, Kravstov D, Ameen N.
Am J Physiol Cell Physiol 299(6):C1450-60. Epub 2010 Sep 15. 2010
60CFTR
Modulation of cystic fibrosis transmembrane conductance regulator (CFTR) activity and genistein binding by cytosolic pH.
Melani R, Tomati V, Galietta LJ, Zegarra-Moran O.
J Biol Chem 285(53):41591-6. Epub 2010 Oct 25. 2010
61CFTR, CLCN5
Role of CFTR and ClC-5 in modulating vacuolar H+-ATPase activity in kidney proximal tubule.
Carraro-Lacroix LR, Lessa LM, Bezerra CN, Pessoa TD, Souza-Menezes J, Morales MM, Girardi AC, Malnic G.
Cell Physiol Biochem 26(4-5):563-76. Epub 2010 Oct 29. 2010
62CFTR, CSE1L
Cse1l is a negative regulator of CFTR-dependent fluid secretion.
Bagnat M, Navis A, Herbstreith S, Brand-Arzamendi K, Curado S, Gabriel S, Mostov K, Huisken J, Stainier DY.
Curr Biol 20(20):1840-5. doi: 10.1016/j.cub.2010.09.012. Epub 2010 Oct 7. Erratum in: Curr Biol. 2010 Dec 7;20(23):2157. 2010
63CFTR, SLC26A5
Interaction between CFTR and prestin (SLC26A5).
Homma K, Miller KK, Anderson CT, Sengupta S, Du GG, Aguiñaga S, Cheatham M, Dallos P, Zheng J.
Biochim Biophys Acta 1798(6):1029-40. doi: 10.1016/j.bbamem.2010.02.001. Epub 2010 Feb 6. 2010
64ASZ1, CFTR
Novel regulatory mechanisms for the CFTR gene.
Ott CJ, Blackledge NP, Leir SH, Harris A.
Biochem Soc Trans 37(Pt 4):843-8. Review.PMID: 19614605 2009
65CF, 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
66CF, 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
67CF, 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
68CFTR
Multiple Mechanisms Influence Regulation of the CFTR Gene Promoter.
Lewandowska MA, Costa FF, Bischof JM, Williams SH, Soares MB, Harris A.
Am J Respir Cell Mol Biol m J Respir Cell Mol Biol. 2009 Oct 23. [Epub ahead of print] 2009
69CFTR
Interaction of intestinal and pancreatic transcription factors in the regulation of CFTR gene expression.
McCarthy VA, Ott CJ, Phylactides M, Harris A.
Biochim Biophys Acta 1789(11-12):709-18. Epub 2009 Sep 24. 2009
70CF, 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.
Faà 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
71CF, CFTR
Emerging treatments in cystic fibrosis.
Jones AM, Helm JM.
Drugs 69(14):1903-10. doi: 10.2165/11318500-000000000-00000. 2009
72CFTR
Characteristics of Cl- uptake in rat alveolar type I cells.
Johnson M, Allen L, Dobbs L.
Am J Physiol Lung Cell Mol Physiol 297(5):L816-27. Epub 2009 Aug 14. 2009
73CFTR
Expression and distribution of cystic fibrosis transmembrane conductance regulator in neurons of the human brain.
Guo Y, Su M, McNutt MA, Gu J.
J Histochem Cytochem 57(12):1113-20. Epub 2009 Aug 3. 2009
74CFTR
A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter.
Ott CJ, Suszko M, Blackledge NP, Wright JE, Crawford GE, Harris A.
J Cell Mol Med 13(4):680-92. 2009
75CFTR, USP10
The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.
Bomberger JM, Barnaby RL, Stanton BA.
J Biol Chem 284(28):18778-89. Epub 2009 Apr 27. 2009
76CF, 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
77CF, 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
78CFTR, USP19
The ER-resident ubiquitin-specific protease 19 participates in the UPR and rescues ERAD substrates.
Hassink GC, Zhao B, Sompallae R, Altun M, Gastaldello S, Zinin NV, Masucci MG, Lindsten K.
EMBO Rep 10(7):755-61. Epub 2009 May 22.PMID: 19465887 2009
79CFTR, PDZK1, SLC9A3R1, SLC9A3R2
Differential roles of NHERF1, NHERF2, and PDZK1 in regulating CFTR-mediated intestinal anion secretion in mice.
Singh AK, Riederer B, Krabbenhöft A, Rausch B, Bonhagen J, Lehmann U, de Jonge HR, Donowitz M, Yun C, Weinman EJ, Kocher O, Hogema BM, Seidler U.
J Clin Invest 119(3):540-50. doi: 10.1172/JCI35541. Epub 2009 Feb 16. 2009
80CFTR, CTRC, PRSS, PRSS, TPCP
Genetic aspects of tropical calcific pancreatitis.
Witt H, Bhatia E.
Rev Endocr Metab Disord 9(3):213-26. 2008
81CISD1, CFTR
CISD1 codifies a mitochondrial protein upregulated by the CFTR channel.
Taminelli GL, Sotomayor V, Valdivieso AG, Teiber ML, Mar’n MC, Santa-Coloma TA.
Biochem Biophys Res Commun 365(4):856-62. Epub 2007 Nov 29. 2008
82CFTR
Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis.
Henckaerts L, Jaspers M, Van Steenbergen W, Vliegen L, Fevery J, Nuytten H, Roskams T, Rutgeerts P, Cassiman JJ, Vermeire S, Cuppens H.
J Hepatol Hepatol. 2008 Oct 7. [Epub ahead of print] 2008
83CF, 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
84AMFR, CFTR, RNF5
Gp78 cooperates with RMA1 in endoplasmic reticulum-associated degradation of CFTRDeltaF508.
Morito D, Hirao K, Oda Y, Hosokawa N, Tokunaga F, Cyr DM, Tanaka K, Iwai K, Nagata K.
Mol Biol Cell 19(4):1328-36. Epub 2008 Jan 23.PMID: 18216283 2008
85CFTR, STX7, STX8, VTI1B
Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.
Bilan F, Nacfer M, Fresquet F, Norez C, Melin P, Martin-Berge A, Costa de Beauregard MA, Becq F, Kitzis A, Thoreau V.
Exp Cell Res 314(11-12):2199-211. Epub 2008 May 4. 2008
86CFTR, HPG, PRSS1, PRSS2, SPINK1
Hereditary chronic pancreatitis.
Rosendahl J, Bödeker H, Mössner J, Teich N.
Orphanet J Rare Dis 2:1. Review. 2007
87SPINK1, CFTR
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.
Masson E, Marechal CL, Levy P, Chuzhanova N, Ruszniewski P, Cooper DN, Chen JM, Ferec C.
Mol Genet Metab 92(1-2):168-75. Epub 2007 Jul 27. 2007
88CFTR
The Walker B motif of the second nucleotide-binding domain (NBD2) of CFTR plays a key role in ATPase activity by the NBD1-NBD2 heterodimer.
Stratford FL, Ramjeesingh M, Cheung JC, Huan LJ, Bear CE.
Biochem J 401(2):581-6. 2007
89CFTR, SCNN1A
CFTR stabilizes ENaC at the plasma membrane.
Lu C, Jiang C, Pribanic S, Rotin D.
J Cyst Fibros 6(6):419-22. Epub 2007 Apr 16.PMID: 17434346 2007
90CFTR, 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
91CFTR
Congenital bilateral absence of the vas deferens and recombination at CFTR.
Haig D.
Eur J Hum Genet 14(7):801; author reply 801. Epub 2006 Apr 26. No abstract available. 2006
92SLC26A3, SLC9A3, CFTR
Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.
Hihnala S, Kujala M, Toppari J, Kere J, Holmberg C, Hšglund P.
Mol Hum Reprod 12(2):107-11. Epub 2006 Jan 18. 2006
93CFTR, DERL1
Derlin-1 promotes the efficient degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) and CFTR folding mutants.
Sun F, Zhang R, Gong X, Geng X, Drain PF, Frizzell RA.
J Biol Chem 281(48):36856-63. Epub 2006 Sep 5. 2006
94CFTR
CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.
Vergani P, Lockless SW, Nairn AC, Gadsby DC.
Nature 433(7028):876-80. 2005
95CFTR, 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
96CFTR, 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
97CFTR, STX8
Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity.
Bilan F, Thoreau V, Nacfer M, Dérand R, Norez C, Cantereau A, Garcia M, Becq F, Kitzis A.
J Cell Sci 117(Pt 10):1923-35. Epub 2004 Mar 23. 2004
98CFTR, CTTNBP2
Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei.
Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F, Luther K, Braz C, Sadoni N, Rosenecker J, Schindelhauer D.
J Cell Biol 166(6):815-25. 2004
99CFTR
An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.
Randak C, Welsh MJ.
Cell 115(7):837-50. 2003
100ABCC1, ABCC2, ABCC3, ABCC6, CFTR
Identification of the structural and functional boundaries of the multidrug resistance protein 1 cytoplasmic loop 3.
Westlake CJ, Qian YM, Gao M, Vasa M, Cole SP, Deeley RG.
Biochemistry 42(48):14099-113. 2003
101CFTR, 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
102CFTR, 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
103CFTR, SLC4A7
The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.
Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I.
J Biol Chem 277(52):50503-9. Epub 2002 Oct 25. 2002
104CFTR, 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
105CFTR
Multiple potential intragenic regulatory elements in the CFTR gene.
Smith DJ, Nuthall HN, Majetti ME, Harris A.
Genomics 64(1):90-6. 2000
106CFTR, 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
107CFTR
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF.
Eur J Hum Genet 8(9):717-20. 2000
108CFTR
Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B.
Hum Mol Genet 9(12):1771-8. 2000
109CFTR, PCIS1
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
Sharer N, et al.
N Engl J Med 339 : 645-652. 1998
110CFTR, PCIS1
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
Cohn JA, et al.
N Engl J Med 339 : 653-658. 1998
111CBAVD, 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
112CF, 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
113CBAVD, CFTR,CF
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
Zielenski J, et al.
Hum Mutat 9 : 183-184. 1997
114CBAVD, 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
115CFTR
A CA repeat in the first intron of the CFTR gene.
Moulin DS, Smith AN, Harris A.
Hum Hered 47(5):295-7. 1997
116CFTR
Amplification of CFTR exon 9 sequences to multiple locations in the human genome.
Rozmahel R, Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC.
Genomics 45(3):554-61. 1997
117CBAVD, 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
118SBPQ, CFTR
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch H, et al.
Hum Mutat 8 : 392-396. 1996
119CBAVD, 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
120CFTR
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
Varon R, et al.
Hum Mol Genet 4 : 1463-1464. 1995
121CFTR
CFTR as a cAMP-dependent regulator of sodium channels.
Stutts MJ, et al.
Science 269 : 847-850. 1995
122CFTR, 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
123CFTR
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.
Dean M, et al.
Hum Genet 93 : 364-368. 1994
124CF, CFTR
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Dšrk T, et al.
Hum Mutat 4 : 65-70. 1994
125CF, CFTR
Les mutations de la mucoviscidose : du gŽnotype au phŽnotype.
FŽrec C, et al.
MŽdecine/Sciences 10 : 631-639. 1994
126CF, CFTR
Correlation between genotype and phenotype in patients with cystic fibrosis.
Hamosh A, et al.
N Engl J Med 329 : 1308-1313. 1993
127CFTR
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.
Hull J, et al.
Hum Mol Genet 2 : 689-692. 1993
128CFTR
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR) : identification of a 50 kilobase deletion.
Morral N, et al.
Hum Mol Genet 2 : 677-681. 1993
129CFTR
A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Cheadle JP, et al.
Hum Mol Genet 2 : 1067-1068. 1993
130CFTR
Identification of the three rare frameshift mutations in exon 13 of the cystic fibrosis gene : 1918delGC, 2118del4 and 2372del8.
Chevalier-Porst F, et al.
Hum Mol Genet 2 : 1071-1072. 1993
131CFTR
Microsatellite haplotypes for cystic fibrosis : mutation frameworks and evolutionary tracers.
Morral N, et al.
Hum Mol Genet 2 : 1015-1022. 1993
132CFTR
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kb C-T mutation.
Augarten A, et al.
Lancet 342 : 25-26. 1993
133CFTR
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.
Delaney SJ, et al.
Nat Genet 4 : 426-431. 1993
134CFTR, 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
135CFTR
Severe splice site mutation preceding exon 9 of the CFTR gene.
Dšrk T, et al.
Hum Mol Genet 2 : 1313-1314. 1993
136CFTR
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
Chillon M, et al.
Hum Mol Genet 2 : 1317-1318. 1993
137CFTR
Identification of the M1101k mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the hutterite population.
Zielenski J, et al.
Am J Hum Genet 52 : 609-615. 1993
138CF, 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
139CFTR
Direct sequencing of the complete CFTR gene : the molecular characterisation of 99.5% of CF chromosomes in Wales.
Cheadle JP, et al.
Hum Mol Genet 2 : 1551-1556. 1993
140CFTR
Fluorescence in situ hybridization mapping of the cystic fibrosis transmembrane conductance regulator (CFTR) gene to 7q31.3.
Heng HHQ, et al.
Cytogenet Cell Genet 62 : 108-109. 1993
141CFTR
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
Cheadle JP, et al.
Hum Mol Genet 1 : 123-125. 1992
142CFTR
Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.
Granell R, et al.
Am J Hum Genet 50 : 1022-1026. 1992
143CFTR
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene : identification, regional distribution, and clinical presentation.
Nunes V, et al.
Am J Hum Genet 50 : 1140-1142. 1992
144CFTR
Molecular characterization of cystic fibrosis : 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P, et al.
Genomics 13 : 770-776. 1992
145CF, 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
146CFTR, 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
147CF, 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
148CF, 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
149CF, 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
150CFTR
Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.
Handyside AH, et al.
N Engl J Med 327 : 905-909. 1992
151CFTR
Transfection of wild-type CFTR into cystic fibrosis lymphocytes restores chloride conductance at G1 of the cell cycle.
Krauss RD, et al.
EMBO J 11 : 875-883. 1992
152CFTR
Expression of cystic fibrosis transmembrane regulator CI- channels in heart.
Levesque PC, et al.
Circ Res 71 : 1002-1007. 1992
153CFTR
Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current.
McDonald TV, et al.
J Biol Chem 267 : 3242-3248. 1992
154CFTR
Screening for cystic fibrosis gene mutations by multiplex DNA amplification.
Picci L, et al.
Hum Genet 88 : 552-556. 1992
155CFTR
Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.
Slomski R, et al.
Hum Genet 89 : 615-619. 1992
156CFTR
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR).
Bear CE, et al.
Cell 68 : 809-818. 1992
157CFTR
A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
Gasparini P, et al.
Hum Genet 86 : 625. 1991
158CFTR
Variable deletion of the exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
Chu CS, et al.
EMBO J 10 : 1355-1363. 1991
159CFTR
A Hinfl polymorphism in the cystic fibrosis gene CFTR.
Dšrk T, et al.
Nucleic Acids Res 19 : 2517. 1991
160CFTR
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444de1A), and Italian (CF2522insC), and a Soviet (CF3821de1T).
White MB, et al.
Genomics 10 : 266-269. 1991
161CFTR
Two new mutations in the CFTR gene: 557 delT in exon 4 and R297Q in exon 7.
Graham CA, et al.
(HGM11) Cytogenet Cell Genet 58 : 1921. 1991
162CFTR
A de novo cystic fibrosis mutation : CGA (Arg) to TGA (Stop) at codon 851 of the CFTR gene.
White MB, et al.
Genomics 11 : 778-779. 1991
163CFTR
A polymorphism in intron 20 of the CFTR gene.
Quere I, et al.
Nucleic Acids Res 19 : 5453. 1991
164CFTR
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BclI.
Chillon M, et al.
Nucleic Acids Res 19 : 6343. 1991
165CFTR, D7S23
Dinucleotide repeat polymorphism closely linked to the cystic fibrosis (CFTR) gene.
Richards B, et al.
Nucleic Acids Res 19 : 5798. 1991
166CFTR
A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J, et al.
Am J Hum Genet 49 : 1256-1262. 1991
167CF, CFTR
Cystic fibrosis : relationship between clinical status and F508 deletion.
Campbell PW, et al.
J Pediatr 118 : 239-241. 1991
168CFTR, CF
Association of less common cystic fibrosis mutations with a mild phenotype.
Curtis A, et al.
J Med Genet 28 : 34-37. 1991
169CF, CFTR
Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.
Friedman KJ, et al.
Clin Chem 37 : 753-755. 1991
170CFTR
Two frameshift mutations in the cystic fibrosis gene.
Iannuzzi MC, et al.
Am J Hum Genet 48 : 227-231. 1991
171CFTR
Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa.
Sorscher EJ, et al.
Lancet 337 : 1115-1118. 1991
172CFTR
Cystic fibrosis gene expression is not correlated with rectifying C1- channels.
Ward CL, et al.
Proc Natl Acad Sci U S A 88 : 5277-5281. 1991
173CFTR
A yeast artificial chromosome contig encompassing the cystic fibrosis locus.
Anand R, et al.
Genomics 9 : 124-130. 1991
174CFTR
A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta-F508 mutation : implications for prenatal diagnosis and mutation origin.
Chehab FF, et al.
Am J Hum Genet 48 : 223-226. 1991
175CFTR
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J, et al.
Genomics 10 : 214-228. 1991
176CFTR
MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.
Bosch A, et al.
Nucleic Acids Res 19 : 1719. 1991
177CFTR
Worldwide survey of the delta-F508 mutation.
The cystic fibrosis genetic analysis consortium.
Am J Hum Genet 47 : 354-359. 1990
178CFTR
PCR test for cystic fibrosis deletion.
Ballabio A, et al.
Nature 343 : 220. 1990
179CFTR
A frame-shift mutation in the cystic fibrosis gene.
White MB, et al.
Nature 344 : 665-667. 1990
180CFTR
Three point mutations in the CFTR gene in French cystic fibrosis patients : identification by denaturing gradient gel electrophoresis.
Vidaud M, et al.
Hum Genet 85 : 446-449. 1990
181CFTR
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
Cheng SH, et al.
Cell 63 : 827-834. 1990
182CFTR
A 12 megabase restriction map at the cystic fibrosis locus.
Fulton TR, et al.
Nucleic Acids Res 17 : 271-284. 1989
183CFTR, D7S424, D7S426
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.
Iannuzzi MC, Dean M, Drumm ML, Hidaka N, Cole JL, Perry A, Stewart C, Gerrard B, Collins FS.
Am J Hum Genet 44 : 695-703. 1989
184CFTR, D7S399
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.
Estivill X, McLean C, Nunes V, Casals T, Gallano P, Scambler P, Williamson R.
Am J Hum Genet 44 : 704-710. 1989
185CFTR
Identification of the cystic fibrosis gene: genetic analysis.
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC.
Science 245 : 1073-1080. 1989
186CFTR
Identification of the cystic fibrosis gene : cloning and characterization of complementary DNA.
Riordan JR, et al.
Science 245 : 1066-1073. 1989
187CFTR
Identification of the cystic fibrosis gene : chromosome walking and jumping.
Rommens JM, et al.
Science 245 : 1059-1065. 1989
188CFTR
Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation.
Huth A, et al.
Nucleic Acids Res 17 : 7118. 1989
189CFTR
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
Rosembloom CL, et al.
Nucleic Acids Res 17 : 7117. 1989
190CFTR
Physical and genetic mapping of a new polymorphic locus, D7S411, isolated by cloning from preparative pulse field gels, place it close to the mutation causing cystic fibrosis.
Ramsay M, et al.
Am J Hum Genet 45 : A213. 1989
191CFTR
Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis.
Rommens JM, et al.
Am J Hum Genet 45 : 932-941. 1989
192CFTR
Prenatal detection of major cystic fibrosis mutation.
Halley DJJ, et al.
Lancet II : 972. 1989
193CF, 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
194CFTR
First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing.
McIntosh I, et al.
Lancet II : 972-973. 1989
195CFTR, WNT2
Recombinations between IRP and cystic fibrosis.
Farrall M, Wainwright BJ, Feldman GL, Beaudet A, Sretenovic Z, Halley D, Simon M, Dickerman L, Devoto M, Romeo G.
Am J Hum Genet 43 : 471-475. 1988
196CFTR, D7S340
In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus.
Duncan AM, Buchwald M, Tsui LC.
Cytogenet Cell Genet 49 : 309-310. 1988
197CFTR, D7S13
Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus.
Bšhm D, et al.
Hum Genet 78 : 186-187. 1988
198CFTR, D7S8, D7S13
Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.
Lathrop GM, et al.
Am J Hum Genet 42 : 38-44. 1988
199CFTR, D7S24
A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markers.
Poustka AM, et al.
Genomics 2 : 337-345. 1988
200CFTR
Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis.
Drumm ML, et al.
Genomics 2 : 346-354. 1988
201CFTR
Analysis of new HTF island clones in the region of cystic fibrosis.
Estivill X, et al.
Am J Hum Genet 43 : A182. 1988
202CFTR, D7S23
Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus.
Stanier P, et al.
Hum Genet 80 : 309-310. 1988
203CFTR
Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion.
van der Hout AH, et al.
Hum Genet 80 : 161-164. 1988
204CFTR
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.
Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Buhler E, Chemke M, Darnedde T, Domagk J, Engel W, et al.
Hum Genet 76 : 337-343. 1987
205CFTR
Additional DNA polymorphisms in the met gene and their use in prenatal diagnosis of cystic fibrosis.
Dean M, et al.
(HGM9) Cytogenet Cell Genet 46 : 605. 1987
206CFTR
Localisation and order of sequences D7S13 and D7S16, which show close linkage to the cystic fibrosis locus.
Buckle VJ, et al.
(HGM9) Cytogenet Cell Genet 46 : 588. 1987
207CFTR
Further linkage disequilibrium data for cystic fibrosis.
Estivill X, et al.
(HGM9) Cytogenet Cell Genet 46 : 610. 1987
208CFTR
Distribution of closely linked RFLP alleles in Finnish cystic fibrosis patients and parents.
Kere J, et al.
(HGM9) Cytogenet Cell Genet 46 : 638. 1987
209CFTR, D7S8
The CF locus is distal to and upstream from the met proto-oncogene transcription unit which is located at 7q31-q32.
Park M, et al.
(HGM9) Cytogenet Cell Genet 46 : 674. 1987
210CFTR
Physical mapping of the cystic fibrosis locus using pulsed field gel electrophoresis.
Fulton TR, et al.
(HGM9) Cytogenet Cell Genet 46 : 617. 1987
211CFTR
A physical map of a region surrounding the CF gene.
Poustka A, et al.
(HGM9) Cytogenet Cell Genet 46 : 677. 1987
212CFTR
Absence of polymorphism disequilibrium between the CF gene and probe sites Met D, Met H and pJ3.11.
Warren P, et al.
(HGM9) Cytogenet Cell Genet 46 : 711. 1987
213CFTR
Cystic fibrosis : typing 48 German families with linked DNA probes.
Mathy L, et al.
Hum Genet 75 : 359-361. 1987
214CFTR, MET, ABCB1, ABCB4
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.
Zengerling S, et al.
Am J Hum Genet 40 : 228-236. 1987
215CFTR
Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7.
Meisler MH, et al.
Cytogenet Cell Genet 44 : 175-176. 1987
216CFTR
Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis.
Wainwright BJ, et al.
Cytogenet Cell Genet 44 : 101-102. 1987
217D7S20, CFTR
Construction of a general human chromosome jumping library, with application to cystic fibrosis.
Collins FS, et al.
Science 235 : 1046-1049. 1987
218CFTR
Localisation of a sequence, 7C22, showing close linkage to the cystic fibrosis locus.
Buckle VJ, et al.
Cytogenet Cell Genet 44 : 41-42. 1987
219CFTR, D7S25, D7S26
Physical and genetic analysis of cosmids from vicinity of the cystic fibrosis.
Scambler PJ, et al.
Nucleic Acids Res 15 : 3639-3652. 1987
220D7S23, CFTR, WNT2
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.
Estivill X, et al.
Nature 326 : 840-845. 1987
221CFTR, D7S23
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.
Estivill X, et al.
Genomics 1 : 257-263. 1987
222CFTR
Linkage of DNA probe B79a (D7S13) to cystic fibrosis.
Wainwright BJ, et al.
Am J Hum Genet 41 : 944-947. 1987
223CFTR
Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7.
Berger W, et al.
Hum Genet 77 : 197-199. 1987
224CFTR
Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families.
Naylor SL, et al.
Am J Hum Genet 39 : 707-712. 1986
225CFTR, D7S18
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.
Scambler PJ, et al.
Nucleic Acids Res 14 : 1951-1956. 1986
226CFTR
Linkage of DNA markers to cystic fibrosis in 26 families.
Spence JE, et al.
Am J Hum Genet 39 : 729-734. 1986
227CFTR, D7S8
Genetic analysis of cystic fibrosis using linked DNA markers.
Tsui LC, et al.
Am J Hum Genet 39 : 720-728. 1986
228CFTR
A linkage study of cystic fibrosis in extended multigenerational pedigrees.
Watkins PC, Schwartz R, Hoffman N, Stanislovitis P, Doherty R, Klinger K.
Am J Hum Genet 39 : 735-743. 1986
229CFTR
Further linkage data on cystic fibosis : The Utah study.
White R, et al.
Am J Hum Genet 39 : 694-698. 1986
230CFTR
Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.
Farall M, et al.
Am J Hum Genet 39 : 713-719. 1986
231CFTR, PON1
Linkage between the loci for cystic fibrosis and paraoxonase.
Schmiegelow K, et al.
Clin Genet 29 : 374-377. 1986
232CFTR, MET, D7S8
Linkage of cystic fibrosis to two tightly linked DNA markers : Joint report from a collaborative study.
Beaudet A, et al.
Am J Hum Genet 39 : 681-693. 1986
233CFTR
Genetic analysis of cystic fibrosis : Linkage of DNA and classical markers in multiplex families.
Bowcock AM, et al.
Am J Hum Genet 39 : 699-706. 1986
234CFTR
Linkage of cystic fibrosis to the proalpha2(I) collagen gene, COL1A2, on chromosome 7.
Buchwald M, et al.
Cytogenet Cell Genet 41 : 234-239. 1986
235CFTR
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.
Knowlton RG, et al.
Nature 318 : 380-382. 1985
236CFTR
Localization of cystic fibrosis locus to human chromosome 7cen-q22.
Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R.
Nature 318 : 384-385. 1985
237CFTR
A closely linked genetic marker for cystic fibrosis.
White R, et al.
Nature 318 : 382-384. 1985
238CFTR, D7S15
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.
Tsui LC, et al.
Science 230 : 1054-1057. 1985