pSpliceExpress Citations (12)

Originally described in: Rapid generation of splicing reporters with pSpliceExpress.
Kishore S, Khanna A, Stamm S Gene. 2008 Dec 31;427(1-2):104-10. Epub 2008 Oct 1. PubMed Journal

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Articles Citing pSpliceExpress

Articles
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. Varga L, Danis D, Skopkova M, Masindova I, Slobodova Z, Demesova L, Profant M, Gasperikova D. BMC Med Genet. 2019 May 17;20(1):84. doi: 10.1186/s12881-019-0806-y. PubMed
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. Beaman GM, Galata G, Teik KW, Urquhart JE, Aishah A, O'Sullivan J, Bhaskar SS, Wood KA, Thomas HB, O'Keefe RT, Woolf AS, Stuart HM, Newman WG. Clin Genet. 2019 Dec;96(6):515-520. doi: 10.1111/cge.13631. Epub 2019 Sep 11. PubMed
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS. J Med Genet. 2020 Mar;57(3):195-202. doi: 10.1136/jmedgenet-2019-106396. Epub 2019 Nov 29. PubMed
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Kubo M, Matsunaga T. PLoS Genet. 2020 Apr 15;16(4):e1008643. doi: 10.1371/journal.pgen.1008643. eCollection 2020 Apr. PubMed
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. Thomas HB, Wood KA, Buczek WA, Gordon CT, Pingault V, Attie-Bitach T, Hentges KE, Varghese VC, Amiel J, Newman WG, O'Keefe RT. Hum Mutat. 2020 Aug;41(8):1372-1382. doi: 10.1002/humu.24027. Epub 2020 May 3. PubMed
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. Knapp KM, Murray J, Temple IK, Bicknell LS. Am J Med Genet A. 2021 Mar;185(3):871-876. doi: 10.1002/ajmg.a.62016. Epub 2020 Dec 18. PubMed
Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress. Putscher E, Hecker M, Fitzner B, Lorenz P, Zettl UK. Int J Mol Sci. 2021 May 13;22(10). pii: ijms22105154. doi: 10.3390/ijms22105154. PubMed
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. Jayadev R, Morais MRPT, Ellingford JM, Srinivasan S, Naylor RW, Lawless C, Li AS, Ingham JF, Hastie E, Chi Q, Fresquet M, Koudis NM, Thomas HB, O'Keefe RT, Williams E, Adamson A, Stuart HM, Banka S, Smedley D, Sherwood DR, Lennon R. Sci Adv. 2022 May 20;8(20):eabn2265. doi: 10.1126/sciadv.abn2265. Epub 2022 May 18. PubMed
METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma. Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. J Clin Invest. 2022 Nov 1;132(21):e153589. doi: 10.1172/JCI153589. PubMed
A framework for individualized splice-switching oligonucleotide therapy. Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, Dash Z, Cornelissen L, Donado C, Faour KNW, Bush LW, Suslovitch V, Lentucci C, Park PJ, Lee EA, Patterson A, Philippakis AA, Margus B, Berde CB, Yu TW. Nature. 2023 Jul;619(7971):828-836. doi: 10.1038/s41586-023-06277-0. Epub 2023 Jul 12. PubMed
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease. Duenas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D, Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. PubMed
Alternative splicing of CARM1 regulated by LincGET-guided paraspeckles biases the first cell fate in mammalian early embryos. Wang J, Zhang Y, Gao J, Feng G, Liu C, Li X, Li P, Liu Z, Lu F, Wang L, Li W, Zhou Q, Liu Y. Nat Struct Mol Biol. 2024 Sep;31(9):1341-1354. doi: 10.1038/s41594-024-01292-9. Epub 2024 Apr 24. PubMed

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