| 1 | CFTR, SMG6
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| CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.
|
| Sanderlin EJ, Keenan MM, Mense M, Revenko AS, Monia BP, Guo S, Huang L.
|
| Nat Commun Apr 29;13(1):2344. doi: 10.1038/s41467-022-29935-9 2022
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| 2 | CF, CFTR, SPNS2
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| Spns2 Transporter Contributes to the Accumulation of S1P in Cystic Fibrosis Human Bronchial Epithelial Cells.
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| Zulueta A, Dei Cas M, Luciano F, Mingione A, Pivari F, Righi I, Morlacchi L, Rosso L, Signorelli P, Ghidoni R, Paroni R, Caretti A
|
| Biomedicines. Aug 31;9(9):1121. doi: 10.3390/biomedicines9091121. 2021
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| 3 | CFTR, SHC1, SYK
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| A SYK/SHC1 pathway regulates the amount of CFTR in the plasma membrane.
|
| Loureiro CA, Pinto FR, Barros P, Matos P, Jordan P.
|
| Cell Mol Life Sci ell Mol Life Sci. 2020 Jan 23. doi: 10.1007/s00018-020-03448-4. [Epub ahead of print]
2020
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| 4 | CFTR, DNAJA1, DNAJA2, HSPA4, HSPA8, STUB1
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| 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
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| 5 | CFTR, FAU
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| High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.
|
| Tomati V, Pesce E, Caci E, Sondo E, Scudieri P, Marini M, Amato F, Castaldo G, Ravazzolo R, Galietta LJV, Pedemonte N.
|
| J Biol Chem 293(4):1203-1217. doi: 10.1074/jbc.M117.816595. Epub 2017 Nov 20.
2018
|
| 6 | CFTR, KRT8
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| 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
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| 7 | CFTR, SLC9A3
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| 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
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| 8 | CFTR, RPS27
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| CFTR modulates RPS27 gene expression using chloride anion as signaling effector
|
| Valdivieso ÁG, Mori C, Clauzure M, Massip-Copiz M, Santa-Coloma TA.
|
| Arch Biochem Biophys. Nov 1;633:103-109. doi: 10.1016/j.abb.2017.09.014. Epub 2017 Sep 21. 2017
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| 9 | CFTR, MARCHF2
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| 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
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| 10 | CFTR, TRADD
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| 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
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| 11 | CFTR, RAPGEF3, SLC9A3R1
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| EPAC1 activation by cAMP stabilizes CFTR at the membrane by promoting its interaction with NHERF1.
|
| Lobo MJ, Amaral MD, Zaccolo M, Farinha CM.
|
| J Cell Sci 129(13):2599-612. doi: 10.1242/jcs.185629. Epub 2016 May 20.
2016
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| 12 | CFTR, RNF5
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| Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.
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| 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
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| 13 | CFTR, SGK1, SHANK2
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| 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
|
| 14 | CFTR, LMTK2
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| 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
|
| 15 | CFTR, SLC26A8
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| Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia.
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| 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
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| 16 | CFTR, RNF185, RNF5
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| 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
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| 17 | CFTR, GOPC, MARCHF2, STX6
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| 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
|
| 18 | CFTR, 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.
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| 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
|
| 19 | CFTR, YWHAB
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| 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
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| 20 | CFTR, EZR, SLC9A3R1
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| 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
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| 21 | CFTR
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| 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
|
| 22 | CFTR, NME1
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| Role of binding and nucleoside diphosphate kinase A in the regulation of the cystic fibrosis transmembrane conductance regulator by AMP-activated protein kinase.
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| 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
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| 23 | CFTR, MIR138-1
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| A microRNA network regulates expression and biosynthesis of wild-type and DeltaF508 mutant cystic fibrosis transmembrane conductance regulator.
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| 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.
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| Proc Natl Acad Sci U S A 109(33):13362-7. doi: 10.1073/pnas.1210906109. Epub 2012 Aug 1.
2012
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| 24 | CFTR
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| 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
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| 25 | CFTR
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| Transcriptional networks driving enhancer function in the CFTR gene.
|
| Kerschner JL, Harris A.
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| Biochem J 446(2):203-12. doi: 10.1042/BJ20120693.
2012
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| 26 | CFTR
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| 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
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| 27 | CF, CFTR
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| 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.
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| Am J Pathol 180(5):2068-75. doi: 10.1016/j.ajpath.2012.01.039. Epub 2012 Mar 23.
2012
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| 28 | CFTR
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| 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
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| 29 | CFTR
|
| 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
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| 30 | CFTR
|
| 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
|
| 31 | CFTR
|
| Transcriptional regulation of CFTR gene expression.
|
| Gillen AE, Harris A.
|
| Front Biosci (Elite Ed) 4:587-92. Review.
2012
|
| 32 | CBAVD, 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
|
| 33 | CFTR, MYO1A
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| 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
|
| 34 | CFTR, SERP1
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| 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
|
| 35 | ABCC4, CFTR
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| 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
|
| 36 | CFTR, DAB2
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| 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
|
| 37 | CFTR, 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
|
| 38 | CFTR, 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
|
| 39 | CFTR, 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
|
| 40 | ANO1, 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
|
| 41 | CFTR, 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
|
| 42 | CFTR, 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
|
| 43 | CF, 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
|
| 44 | CFTR, 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
|
| 45 | CFTR, 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
|
| 46 | ANO6, 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
|
| 47 | ANO1, 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
|
| 48 | CFTR
|
| 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
|
| 49 | CFTR, 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
|
| 50 | CFTR
|
| 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
|
| 51 | CFTR
|
| 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
|
| 52 | CFTR
|
| 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
|
| 53 | CFTR
|
| 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
|
| 54 | CFTR
|
| 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
|
| 55 | CFTR, 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
|
| 56 | CFTR
|
| 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
|
| 57 | CFTR, 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
|
| 58 | CFTR
|
| 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
|
| 59 | CFTR, PRSS1, PRSS2, SPINK1
|
| Genetic aspects of pancreatitis.
|
| Whitcomb DC.
|
| Annu Rev Med 61:413-24. Review.PMID: 20059346 2010
|
| 60 | CFTR
|
| 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
|
| 61 | CELF1, 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
|
| 62 | CF, 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
|
| 63 | CFTR, 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
|
| 64 | CFTR, 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
|
| 65 | CFTR, 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
|
| 66 | CFTR
|
| 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
|
| 67 | CFTR, 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
|
| 68 | CFTR, 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
|
| 69 | CFTR, 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
|
| 70 | ASZ1, 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
|
| 71 | CF, 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
|
| 72 | CF, 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
|
| 73 | CF, 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
|
| 74 | CFTR
|
| 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
|
| 75 | CFTR
|
| 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
|
| 76 | CF, 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
|
| 77 | CF, CFTR
|
| Emerging treatments in cystic fibrosis.
|
| Jones AM, Helm JM.
|
| Drugs 69(14):1903-10. doi: 10.2165/11318500-000000000-00000.
2009
|
| 78 | CFTR
|
| 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
|
| 79 | CFTR
|
| 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
|
| 80 | CFTR
|
| 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
|
| 81 | CFTR, 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
|
| 82 | CF, 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
|
| 83 | CF, 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
|
| 84 | CFTR, 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
|
| 85 | CFTR, 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
|
| 86 | CFTR, CTRC, PRSS, PRSS, TPCP
|
| Genetic aspects of tropical calcific pancreatitis.
|
| Witt H, Bhatia E.
|
| Rev Endocr Metab Disord 9(3):213-26. 2008
|
| 87 | CISD1, 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
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| 88 | CFTR
|
| 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
|
| 89 | CF, 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
|
| 90 | AMFR, 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
|
| 91 | CFTR, 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
|
| 92 | CFTR, HPG, PRSS1, PRSS2, SPINK1
|
| Hereditary chronic pancreatitis.
|
| Rosendahl J, Bödeker H, Mössner J, Teich N.
|
| Orphanet J Rare Dis 2:1. Review. 2007
|
| 93 | SPINK1, 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
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| 94 | CFTR
|
| 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
|
| 95 | CFTR, 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
|
| 96 | CFTR, 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.
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| Eur J Hum Genet 14(5):567-76. 2006
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| 97 | CFTR
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| Congenital bilateral absence of the vas deferens and recombination at CFTR.
|
| Haig D.
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| Eur J Hum Genet 14(7):801; author reply 801. Epub 2006 Apr 26. No abstract available. 2006
|
| 98 | SLC26A3, 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.
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| Mol Hum Reprod 12(2):107-11. Epub 2006 Jan 18. 2006
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| 99 | CFTR, DERL1
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| 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.
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| J Biol Chem 281(48):36856-63. Epub 2006 Sep 5.
2006
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| 100 | CFTR
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| CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.
|
| Vergani P, Lockless SW, Nairn AC, Gadsby DC.
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| Nature 433(7028):876-80. 2005
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| 101 | CFTR, CF, CBAVD
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| Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
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| 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.
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| Am J Hum Genet 74(1):176-9. Epub 2003 Dec 18. 2004
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| 102 | CFTR, CF, CBAVD
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| Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
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| 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.
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| 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
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| 103 | CFTR, STX8
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| 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.
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| J Cell Sci 117(Pt 10):1923-35. Epub 2004 Mar 23.
2004
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| 104 | CFTR, CTTNBP2
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| Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei.
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| Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F, Luther K, Braz C, Sadoni N, Rosenecker J, Schindelhauer D.
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| J Cell Biol 166(6):815-25.
2004
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| 105 | CFTR
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| An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.
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| Randak C, Welsh MJ.
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| Cell 115(7):837-50. 2003
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| 106 | ABCC1, ABCC2, ABCC3, ABCC6, CFTR
|
| Identification of the structural and functional boundaries of the multidrug resistance protein 1 cytoplasmic loop 3.
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| Westlake CJ, Qian YM, Gao M, Vasa M, Cole SP, Deeley RG.
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| Biochemistry 42(48):14099-113. 2003
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| 107 | CFTR, CF
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| Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
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| McKone EF, Emerson SS, Edwards KL, Aitken ML.
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| Lancet 361(9370):1671-6. 2003
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| 108 | CFTR, CF, DNAJB6
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| 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.
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| Biochem J 366(Pt 3):797-806. 2002
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| 109 | CFTR, SLC4A7
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| 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.
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| J Biol Chem 277(52):50503-9. Epub 2002 Oct 25.
2002
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| 110 | CFTR, CF, CBAVD
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| Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
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| Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG.
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| Genet Med 3(2):149-54. No abstract available. 2001
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| 111 | CFTR
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| Multiple potential intragenic regulatory elements in the CFTR gene.
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| Smith DJ, Nuthall HN, Majetti ME, Harris A.
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| Genomics 64(1):90-6. 2000
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| 112 | CFTR, CF, CBAVD
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| 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.
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| Mickle JE, Milewski MI, Macek M Jr, Cutting GR.
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| Am J Hum Genet 66(5):1485-95. 2000
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| 113 | CFTR
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| Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
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| Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF.
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| Eur J Hum Genet 8(9):717-20. 2000
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| 114 | CFTR
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| Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
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| Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B.
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| Hum Mol Genet 9(12):1771-8. 2000
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| 115 | CFTR, PCIS1
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| Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
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| Sharer N, et al.
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| N Engl J Med 339 : 645-652. 1998
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| 116 | CFTR, PCIS1
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| Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
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| Cohn JA, et al.
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| N Engl J Med 339 : 653-658. 1998
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| 117 | CBAVD, CFTR, CF
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| Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
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| Larriba S, et al.
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| Hum Mol Genet 7 : 1739-1744. 1998
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| 118 | CF, CFTR
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| The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10kb C-T mutation.
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| Chiba-Falek O, et al.
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| Genomics 53 : 276-283. 1998
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| 119 | CBAVD, CFTR,CF
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| Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
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| Zielenski J, et al.
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| Hum Mutat 9 : 183-184. 1997
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| 120 | CBAVD, CFTR, CF
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| Molecular diagnosis of congenital bilateral absence of the vas deferens : analyses of the CFTR gene in 64 French patients.
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| Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan JC, Beldjord C.
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| Ann Genet 40(1):5-9. 1997
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| 121 | CFTR
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| A CA repeat in the first intron of the CFTR gene.
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| Moulin DS, Smith AN, Harris A.
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| Hum Hered 47(5):295-7. 1997
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| 122 | CFTR
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| Amplification of CFTR exon 9 sequences to multiple locations in the human genome.
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| Rozmahel R, Heng HH, Duncan AM, Shi XM, Rommens JM, Tsui LC.
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| Genomics 45(3):554-61. 1997
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| 123 | CBAVD, CFTR, CF
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| Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR) : correlation between genotype and phenotype.
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| Dumur V, et al.
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| Hum Genet 97 : 7-10. 1996
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| 124 | SBPQ, CFTR
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| A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
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| Hum Mutat 8 : 392-396. 1996
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| 125 | CBAVD, CFTR, CF
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| Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
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| N Engl J Med 332 : 1475-1480. 1995
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| 126 | CFTR
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| Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
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| Varon R, et al.
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| Hum Mol Genet 4 : 1463-1464. 1995
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| 127 | CFTR
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| CFTR as a cAMP-dependent regulator of sodium channels.
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| Science 269 : 847-850. 1995
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| 128 | CFTR, CBAVD, CF
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| Is congenital bilateral absence of vas deferens a primary form of cysticfibrosis? Analyses of the CFTR gene in 67 patients.
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| 129 | CFTR
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| Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.
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| Hum Genet 93 : 364-368. 1994
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| 130 | CF, CFTR
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| A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
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| Hum Mutat 4 : 65-70. 1994
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| Les mutations de la mucoviscidose : du gŽnotype au phŽnotype.
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| N Engl J Med 329 : 1308-1313. 1993
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| 133 | CFTR
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| Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.
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| Hum Mol Genet 2 : 689-692. 1993
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| 134 | CFTR
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| Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR) : identification of a 50 kilobase deletion.
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| Hum Mol Genet 2 : 677-681. 1993
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| 135 | CFTR
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| A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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| Hum Mol Genet 2 : 1067-1068. 1993
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| 136 | CFTR
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| Identification of the three rare frameshift mutations in exon 13 of the cystic fibrosis gene : 1918delGC, 2118del4 and 2372del8.
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| Hum Mol Genet 2 : 1071-1072. 1993
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| 137 | CFTR
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| Microsatellite haplotypes for cystic fibrosis : mutation frameworks and evolutionary tracers.
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| Hum Mol Genet 2 : 1015-1022. 1993
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| Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kb C-T mutation.
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| Lancet 342 : 25-26. 1993
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| Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.
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| Nat Genet 4 : 426-431. 1993
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| 140 | CFTR, CF
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| 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.
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| Hum Mol Genet 2 : 1209-1213. 1993
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| 141 | CFTR
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| Severe splice site mutation preceding exon 9 of the CFTR gene.
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| Hum Mol Genet 2 : 1313-1314. 1993
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| 142 | CFTR
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| Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
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| Hum Mol Genet 2 : 1317-1318. 1993
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| 143 | CFTR
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| 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.
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| A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.
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| Direct sequencing of the complete CFTR gene : the molecular characterisation of 99.5% of CF chromosomes in Wales.
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| Hum Mol Genet 2 : 1551-1556. 1993
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| Cytogenet Cell Genet 62 : 108-109. 1993
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| A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
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| Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.
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| Delta-F508 mutation of cystic fibrosis gene is not found in chronic bronchitis with severe obstruction in Japan.
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| Expression of cystic fibrosis transmembrane regulator CI- channels in heart.
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| Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current.
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| 160 | CFTR
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| 161 | CFTR
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| Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.
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| Hum Genet 89 : 615-619. 1992
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| 162 | CFTR
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| Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR).
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| Cell 68 : 809-818. 1992
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| 163 | CFTR
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| A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
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| Hum Genet 86 : 625. 1991
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| 164 | CFTR
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| Variable deletion of the exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
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| 165 | CFTR
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| A Hinfl polymorphism in the cystic fibrosis gene CFTR.
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| Nucleic Acids Res 19 : 2517. 1991
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| 166 | CFTR
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| Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444de1A), and Italian (CF2522insC), and a Soviet (CF3821de1T).
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| White MB, et al.
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| Genomics 10 : 266-269. 1991
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| 167 | CFTR
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| Two new mutations in the CFTR gene: 557 delT in exon 4 and R297Q in exon 7.
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| (HGM11) Cytogenet Cell Genet 58 : 1921. 1991
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| 168 | CFTR
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| A de novo cystic fibrosis mutation : CGA (Arg) to TGA (Stop) at codon 851 of the CFTR gene.
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| White MB, et al.
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| Genomics 11 : 778-779. 1991
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| 169 | CFTR
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| A polymorphism in intron 20 of the CFTR gene.
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| Nucleic Acids Res 19 : 5453. 1991
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| 170 | CFTR
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| SSCP-polymorphism in intron 12 of the CFTR gene recognized by BclI.
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| Nucleic Acids Res 19 : 6343. 1991
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| 171 | CFTR, D7S23
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| Dinucleotide repeat polymorphism closely linked to the cystic fibrosis (CFTR) gene.
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| 172 | CFTR
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| 173 | CF, CFTR
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| J Pediatr 118 : 239-241. 1991
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| 174 | CFTR, CF
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| J Med Genet 28 : 34-37. 1991
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| 175 | CF, CFTR
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| 176 | CFTR
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| 177 | CFTR
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| Lancet 337 : 1115-1118. 1991
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| 178 | CFTR
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| Cystic fibrosis gene expression is not correlated with rectifying C1- channels.
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| Proc Natl Acad Sci U S A 88 : 5277-5281. 1991
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| 179 | CFTR
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| A yeast artificial chromosome contig encompassing the cystic fibrosis locus.
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| Genomics 9 : 124-130. 1991
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| 180 | CFTR
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| 181 | CFTR
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| Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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| Genomics 10 : 214-228. 1991
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| 182 | CFTR
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| MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.
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| 183 | CFTR
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| Worldwide survey of the delta-F508 mutation.
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| 184 | CFTR
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| PCR test for cystic fibrosis deletion.
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| Nature 343 : 220. 1990
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| 185 | CFTR
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| A frame-shift mutation in the cystic fibrosis gene.
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| Nature 344 : 665-667. 1990
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| 186 | CFTR
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| Three point mutations in the CFTR gene in French cystic fibrosis patients : identification by denaturing gradient gel electrophoresis.
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| Hum Genet 85 : 446-449. 1990
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| 187 | CFTR
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| Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
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| Cell 63 : 827-834. 1990
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| 188 | CFTR
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| A 12 megabase restriction map at the cystic fibrosis locus.
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| Nucleic Acids Res 17 : 271-284. 1989
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| 189 | CFTR, D7S424, D7S426
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| Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.
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| Iannuzzi MC, Dean M, Drumm ML, Hidaka N, Cole JL, Perry A, Stewart C, Gerrard B, Collins FS.
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| Am J Hum Genet 44 : 695-703. 1989
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| 190 | CFTR, D7S399
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| Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.
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| Estivill X, McLean C, Nunes V, Casals T, Gallano P, Scambler P, Williamson R.
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| Am J Hum Genet 44 : 704-710. 1989
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| 191 | CFTR
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| Identification of the cystic fibrosis gene: genetic analysis.
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| Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC.
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| Science 245 : 1073-1080. 1989
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| 192 | CFTR
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| Identification of the cystic fibrosis gene : cloning and characterization of complementary DNA.
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| Riordan JR, et al.
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| Science 245 : 1066-1073. 1989
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| 193 | CFTR
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| Identification of the cystic fibrosis gene : chromosome walking and jumping.
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| Science 245 : 1059-1065. 1989
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| 194 | CFTR
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| Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation.
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| Nucleic Acids Res 17 : 7118. 1989
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| 195 | CFTR
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| DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
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| Rosembloom CL, et al.
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| Nucleic Acids Res 17 : 7117. 1989
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| 196 | CFTR
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| 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.
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| Ramsay M, et al.
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| Am J Hum Genet 45 : A213. 1989
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| 197 | CFTR
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| Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis.
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| Rommens JM, et al.
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| Am J Hum Genet 45 : 932-941. 1989
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| 198 | CFTR
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| Prenatal detection of major cystic fibrosis mutation.
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| Lancet II : 972. 1989
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| 199 | CF, CFTR
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| Genetic analysis of DNA from single human oocytes : a model for preimplantation diagnosis of cystic fibrosis.
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| Br Med J 299 : 22-24. 1989
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| 200 | CFTR
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| First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing.
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| Lancet II : 972-973. 1989
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| 201 | CFTR, WNT2
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| Recombinations between IRP and cystic fibrosis.
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| Am J Hum Genet 43 : 471-475. 1988
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| 202 | CFTR, D7S340
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| In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus.
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| Duncan AM, Buchwald M, Tsui LC.
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| Cytogenet Cell Genet 49 : 309-310. 1988
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| 203 | CFTR, D7S13
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| Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus.
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| Hum Genet 78 : 186-187. 1988
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| 204 | CFTR, D7S8, D7S13
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| Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene.
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| Am J Hum Genet 42 : 38-44. 1988
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| 205 | CFTR, D7S24
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| A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markers.
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| Genomics 2 : 337-345. 1988
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| 206 | CFTR
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| Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis.
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| Drumm ML, et al.
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| Genomics 2 : 346-354. 1988
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| 207 | CFTR
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| Analysis of new HTF island clones in the region of cystic fibrosis.
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| Estivill X, et al.
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| Am J Hum Genet 43 : A182. 1988
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| 208 | CFTR, D7S23
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| Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus.
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| Stanier P, et al.
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| Hum Genet 80 : 309-310. 1988
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| 209 | CFTR
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| Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion.
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| van der Hout AH, et al.
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| Hum Genet 80 : 161-164. 1988
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| 210 | CFTR
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| Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci.
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| Schmidtke J, Krawczak M, Schwartz M, Alkan M, Bonduelle M, Buhler E, Chemke M, Darnedde T, Domagk J, Engel W, et al.
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| Hum Genet 76 : 337-343. 1987
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| 211 | CFTR
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| Additional DNA polymorphisms in the met gene and their use in prenatal diagnosis of cystic fibrosis.
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| Dean M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 605. 1987
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| 212 | CFTR
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| Localisation and order of sequences D7S13 and D7S16, which show close linkage to the cystic fibrosis locus.
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| Buckle VJ, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 588. 1987
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| 213 | CFTR
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| Further linkage disequilibrium data for cystic fibrosis.
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| Estivill X, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 610. 1987
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| 214 | CFTR
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| Distribution of closely linked RFLP alleles in Finnish cystic fibrosis patients and parents.
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| Kere J, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 638. 1987
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| 215 | CFTR, D7S8
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| The CF locus is distal to and upstream from the met proto-oncogene transcription unit which is located at 7q31-q32.
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| Park M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 674. 1987
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| 216 | CFTR
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| Physical mapping of the cystic fibrosis locus using pulsed field gel electrophoresis.
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| Fulton TR, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 617. 1987
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| 217 | CFTR
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| A physical map of a region surrounding the CF gene.
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| (HGM9) Cytogenet Cell Genet 46 : 677. 1987
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| 218 | CFTR
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| Absence of polymorphism disequilibrium between the CF gene and probe sites Met D, Met H and pJ3.11.
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| Warren P, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 711. 1987
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| 219 | CFTR
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| Cystic fibrosis : typing 48 German families with linked DNA probes.
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| Hum Genet 75 : 359-361. 1987
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| 220 | CFTR, MET, ABCB1, ABCB4
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| Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.
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| Zengerling S, et al.
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| Am J Hum Genet 40 : 228-236. 1987
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| 221 | CFTR
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| Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7.
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| Meisler MH, et al.
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| Cytogenet Cell Genet 44 : 175-176. 1987
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| 222 | CFTR
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| Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis.
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| Wainwright BJ, et al.
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| Cytogenet Cell Genet 44 : 101-102. 1987
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| 223 | D7S20, CFTR
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| Construction of a general human chromosome jumping library, with application to cystic fibrosis.
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| Collins FS, et al.
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| Science 235 : 1046-1049. 1987
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| 224 | CFTR
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| Localisation of a sequence, 7C22, showing close linkage to the cystic fibrosis locus.
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| Buckle VJ, et al.
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| Cytogenet Cell Genet 44 : 41-42. 1987
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| 225 | CFTR, D7S25, D7S26
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| Physical and genetic analysis of cosmids from vicinity of the cystic fibrosis.
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| Nucleic Acids Res 15 : 3639-3652. 1987
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| 226 | D7S23, CFTR, WNT2
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| A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.
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| Estivill X, et al.
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| Nature 326 : 840-845. 1987
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| 227 | CFTR, D7S23
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| Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.
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| Genomics 1 : 257-263. 1987
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| 228 | CFTR
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| Linkage of DNA probe B79a (D7S13) to cystic fibrosis.
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| Am J Hum Genet 41 : 944-947. 1987
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| 229 | CFTR
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| Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7.
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| Hum Genet 77 : 197-199. 1987
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| 230 | CFTR
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| Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families.
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| Am J Hum Genet 39 : 707-712. 1986
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| 231 | CFTR, D7S18
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| Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.
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| 232 | CFTR
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| Linkage of DNA markers to cystic fibrosis in 26 families.
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| Am J Hum Genet 39 : 729-734. 1986
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| 233 | CFTR, D7S8
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| Am J Hum Genet 39 : 720-728. 1986
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| 234 | CFTR
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| A linkage study of cystic fibrosis in extended multigenerational pedigrees.
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| Am J Hum Genet 39 : 735-743. 1986
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| 235 | CFTR
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| Further linkage data on cystic fibosis : The Utah study.
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| Am J Hum Genet 39 : 694-698. 1986
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| 236 | CFTR
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| Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.
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| Farall M, et al.
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| Am J Hum Genet 39 : 713-719. 1986
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| 237 | CFTR, PON1
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| Linkage between the loci for cystic fibrosis and paraoxonase.
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| Clin Genet 29 : 374-377. 1986
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| 238 | CFTR, MET, D7S8
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| Linkage of cystic fibrosis to two tightly linked DNA markers : Joint report from a collaborative study.
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| Am J Hum Genet 39 : 681-693. 1986
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| 239 | CFTR
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| Genetic analysis of cystic fibrosis : Linkage of DNA and classical markers in multiplex families.
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| Bowcock AM, et al.
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| Am J Hum Genet 39 : 699-706. 1986
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| 240 | CFTR
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| Linkage of cystic fibrosis to the proalpha2(I) collagen gene, COL1A2, on chromosome 7.
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| Buchwald M, et al.
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| Cytogenet Cell Genet 41 : 234-239. 1986
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| 241 | CFTR
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| A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.
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| Knowlton RG, et al.
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| Nature 318 : 380-382. 1985
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| 242 | CFTR
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| Localization of cystic fibrosis locus to human chromosome 7cen-q22.
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| Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R.
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| Nature 318 : 384-385. 1985
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| 243 | CFTR
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| A closely linked genetic marker for cystic fibrosis.
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| White R, et al.
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| Nature 318 : 382-384. 1985
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| 244 | CFTR, D7S15
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| Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.
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| Tsui LC, et al.
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| Science 230 : 1054-1057. 1985
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