Sharma N - Search Results

1

Decreased mRNA and protein stability of W1282X limits response to modulator therapy.

Aksit MA, Bowling AD, Evans TA, Joynt AT, Osorio D, Patel S, West N, Merlo C, Sosnay PR, Cutting GR, Sharma N. Aksit MA, et al. Among authors: sharma n. J Cyst Fibros. 2019 Sep;18(5):606-613. doi: 10.1016/j.jcf.2019.02.009. Epub 2019 Feb 23. J Cyst Fibros. 2019. PMID: 30803905 Free PMC article.

2

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: sharma n. 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.

3

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: sharma n. 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.

4

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. 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.

5

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: sharma n. 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.

6

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. Lee M, et al. Among authors: sharma n. Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23. Hum Mol Genet. 2016. PMID: 26911677 Free PMC article.

7

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.

Sharma N, LaRusch J, Sosnay PR, Gottschalk LB, Lopez AP, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR. Sharma N, et al. Am J Physiol Lung Cell Mol Physiol. 2016 Dec 1;311(6):L1170-L1182. doi: 10.1152/ajplung.00363.2016. Epub 2016 Oct 28. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27793802 Free PMC article.

8

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Vecchio-Pagán B, Blackman SM, Lee M, Atalar M, Pellicore MJ, Pace RG, Franca AL, Raraigh KS, Sharma N, Knowles MR, Cutting GR. Vecchio-Pagán B, et al. Among authors: sharma n. Hum Genome Var. 2016 Nov 24;3:16038. doi: 10.1038/hgv.2016.38. eCollection 2016. Hum Genome Var. 2016. PMID: 27917292 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: sharma n. 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: sharma n. 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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