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Items: 1 to 20 of 253

1.

Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism.

Tanner JA, Zhu AZ, Claw KG, Prasad B, Korchina V, Hu J, Doddapaneni H, Muzny DM, Schuetz EG, Lerman C, Thummel KE, Scherer SE, Tyndale RF.

Pharmacogenet Genomics. 2018 Jan;28(1):7-16. doi: 10.1097/FPC.0000000000000317.

PMID:
29232328
2.

A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements.

Ottesen EW, Seo J, Singh NN, Singh RN.

Front Microbiol. 2017 Nov 15;8:2252. doi: 10.3389/fmicb.2017.02252. eCollection 2017. Review.

3.

Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.

Singh NN, Del Rio-Malewski JB, Luo D, Ottesen EW, Howell MD, Singh RN.

Nucleic Acids Res. 2017 Dec 1;45(21):12214-12240. doi: 10.1093/nar/gkx824.

4.

Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of β-Thalassemic Patients.

Shekari Khaniani M, Tagizadeh M, Hosseinpour Feizi A, Mansoori Derakhshan S.

Iran J Biotechnol. 2016 Mar;14(1):9-15. doi: 10.15171/ijb.1169.

5.

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Grodecká L, Buratti E, Freiberger T.

Int J Mol Sci. 2017 Jul 31;18(8). pii: E1668. doi: 10.3390/ijms18081668. Review.

6.

Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.

Gamazon ER, Konkashbaev A, Derks EM, Cox NJ, Lee Y.

Sci Rep. 2017 Jul 20;7(1):5980. doi: 10.1038/s41598-017-05744-9.

7.

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion.

Mou H, Smith JL, Peng L, Yin H, Moore J, Zhang XO, Song CQ, Sheel A, Wu Q, Ozata DM, Li Y, Anderson DG, Emerson CP, Sontheimer EJ, Moore MJ, Weng Z, Xue W.

Genome Biol. 2017 Jun 14;18(1):108. doi: 10.1186/s13059-017-1237-8.

8.

A birth of bipartite exon by intragenic deletion.

Nozu K, Iijima K, Igarashi T, Yamada S, Kralovicova J, Nozu Y, Yamamura T, Minamikawa S, Morioka I, Ninchoji T, Kaito H, Nakanishi K, Vorechovsky I.

Mol Genet Genomic Med. 2017 Mar 1;5(3):287-294. doi: 10.1002/mgg3.277. eCollection 2017 May.

9.

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.

PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691. eCollection 2017 Mar.

10.

AMPA GluA1-flip targeted oligonucleotide therapy reduces neonatal seizures and hyperexcitability.

Lykens NM, Coughlin DJ, Reddi JM, Lutz GJ, Tallent MK.

PLoS One. 2017 Feb 8;12(2):e0171538. doi: 10.1371/journal.pone.0171538. eCollection 2017.

11.

SR Proteins: Binders, Regulators, and Connectors of RNA.

Jeong S.

Mol Cells. 2017 Jan;40(1):1-9. doi: 10.14348/molcells.2017.2319. Epub 2017 Jan 26. Review.

12.

Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing.

Zhang Y, O'Leary MN, Peri S, Wang M, Zha J, Melov S, Kappes DJ, Feng Q, Rhodes J, Amieux PS, Morris DR, Kennedy BK, Wiest DL.

Cell Rep. 2017 Jan 10;18(2):545-556. doi: 10.1016/j.celrep.2016.12.034.

13.

Succession of splicing regulatory elements determines cryptic 5΄ss functionality.

Brillen AL, Schöneweis K, Walotka L, Hartmann L, Müller L, Ptok J, Kaisers W, Poschmann G, Stühler K, Buratti E, Theiss S, Schaal H.

Nucleic Acids Res. 2017 Apr 20;45(7):4202-4216. doi: 10.1093/nar/gkw1317.

14.

Computational Identification of Tissue-Specific Splicing Regulatory Elements in Human Genes from RNA-Seq Data.

Badr E, ElHefnawi M, Heath LS.

PLoS One. 2016 Nov 18;11(11):e0166978. doi: 10.1371/journal.pone.0166978. eCollection 2016.

16.

RNA Sequence Context Effects Measured In Vitro Predict In Vivo Protein Binding and Regulation.

Taliaferro JM, Lambert NJ, Sudmant PH, Dominguez D, Merkin JJ, Alexis MS, Bazile C, Burge CB.

Mol Cell. 2016 Oct 20;64(2):294-306. doi: 10.1016/j.molcel.2016.08.035. Epub 2016 Oct 6.

17.

The Mouse-Specific Splice Variant mRAGE_v4 Encodes a Membrane-Bound RAGE That Is Resistant to Shedding and Does Not Contribute to the Production of Soluble RAGE.

Di Maggio S, Gatti E, Liu J, Bertolotti M, Fritz G, Bianchi ME, Raucci A.

PLoS One. 2016 Sep 21;11(9):e0153832. doi: 10.1371/journal.pone.0153832. eCollection 2016.

18.

Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons.

Kralovicova J, Vorechovsky I.

Nucleic Acids Res. 2017 Jan 9;45(1):417-434. doi: 10.1093/nar/gkw733. Epub 2016 Aug 26.

19.

Intron gain by tandem genomic duplication: a novel case in a potato gene encoding RNA-dependent RNA polymerase.

Ma MY, Lan XR, Niu DK.

PeerJ. 2016 Jul 26;4:e2272. doi: 10.7717/peerj.2272. eCollection 2016.

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