Cutting GR - Search Results

1

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Among authors: cutting gr. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.

2

Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium.

Montrose-Rafizadeh C, Blackmon DL, Hamosh A, Oliva MM, Hawkins AL, Curristin SM, Griffin CA, Yang VW, Guggino WB, Cutting GR, et al. Montrose-Rafizadeh C, et al. Among authors: cutting gr. J Biol Chem. 1992 Sep 25;267(27):19299-305. J Biol Chem. 1992. PMID: 1382071 Free article.

3

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr. Cutting GR, et al. Nature. 1990 Jul 26;346(6282):366-9. doi: 10.1038/346366a0. Nature. 1990. PMID: 1695717

4

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: cutting gr. 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.

5

Melanocortin 3 receptor has a 5' exon that directs translation of apically localized protein from the second in-frame ATG.

Park J, Sharma N, Cutting GR. Park J, et al. Among authors: cutting gr. Mol Endocrinol. 2014 Sep;28(9):1547-57. doi: 10.1210/me.2014-1105. Epub 2014 Jul 22. Mol Endocrinol. 2014. PMID: 25051171 Free PMC article.

6

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Raraigh KS, Amaral MD, Karchin R, Cutting GR. Sharma N, et al. Among authors: cutting gr. Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25066652 Free PMC article.

7

Cystic fibrosis genetics: from molecular understanding to clinical application.

Cutting GR. Cutting GR. Nat Rev Genet. 2015 Jan;16(1):45-56. doi: 10.1038/nrg3849. Epub 2014 Nov 18. Nat Rev Genet. 2015. PMID: 25404111 Free PMC article. Review.

8

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.

Gottschalk LB, Vecchio-Pagan B, Sharma N, Han ST, Franca A, Wohler ES, Batista DA, Goff LA, Cutting GR. Gottschalk LB, et al. Among authors: cutting gr. J Cyst Fibros. 2016 May;15(3):285-94. doi: 10.1016/j.jcf.2015.11.010. Epub 2015 Dec 13. J Cyst Fibros. 2016. PMID: 26694805 Free PMC article.

9

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

Lee M, Roos P, Sharma N, Atalar M, Evans TA, Pellicore MJ, Davis E, Lam AN, Stanley SE, Khalil SE, Solomon GM, Walker D, Raraigh KS, Vecchio-Pagan B, Armanios M, Cutting GR. Lee M, et al. Among authors: cutting gr. Am J Hum Genet. 2017 May 4;100(5):751-765. doi: 10.1016/j.ajhg.2017.04.001. Am J Hum Genet. 2017. PMID: 28475858 Free PMC article.

10

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. Raraigh KS, et al. Among authors: cutting gr. Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805046 Free PMC article.

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