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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: millen l. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.
Gating of CFTR by the STAS domain of SLC26 transporters.
Ko SB, Zeng W, Dorwart MR, Luo X, Kim KH, Millen L, Goto H, Naruse S, Soyombo A, Thomas PJ, Muallem S. Ko SB, et al. Among authors: millen l. Nat Cell Biol. 2004 Apr;6(4):343-50. doi: 10.1038/ncb1115. Epub 2004 Mar 28. Nat Cell Biol. 2004. PMID: 15048129 Free PMC article.
The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.
Thibodeau PH, Richardson JM 3rd, Wang W, Millen L, Watson J, Mendoza JL, Du K, Fischman S, Senderowitz H, Lukacs GL, Kirk K, Thomas PJ. Thibodeau PH, et al. Among authors: millen l. J Biol Chem. 2010 Nov 12;285(46):35825-35. doi: 10.1074/jbc.M110.131623. Epub 2010 Jul 28. J Biol Chem. 2010. PMID: 20667826 Free PMC article.
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.
Bihler H, Sivachenko A, Millen L, Bhatt P, Patel AT, Chin J, Bailey V, Musisi I, LaPan A, Allaire NE, Conte J, Simon NR, Magaret AS, Raraigh KS, Cutting GR, Skach WR, Bridges RJ, Thomas PJ, Mense M. Bihler H, et al. Among authors: millen l. J Cyst Fibros. 2024 Feb 21:S1569-1993(24)00021-3. doi: 10.1016/j.jcf.2024.02.006. Online ahead of print. J Cyst Fibros. 2024. PMID: 38388235 Free article.
24 results