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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: salton m. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460 Free PMC article.
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E).
Poulikakos PI, Persaud Y, Janakiraman M, Kong X, Ng C, Moriceau G, Shi H, Atefi M, Titz B, Gabay MT, Salton M, Dahlman KB, Tadi M, Wargo JA, Flaherty KT, Kelley MC, Misteli T, Chapman PB, Sosman JA, Graeber TG, Ribas A, Lo RS, Rosen N, Solit DB. Poulikakos PI, et al. Among authors: salton m. Nature. 2011 Nov 23;480(7377):387-90. doi: 10.1038/nature10662. Nature. 2011. PMID: 22113612 Free PMC article.
VEGFA's distal enhancer regulates its alternative splicing in CML.
Dahan S, Sharma A, Cohen K, Baker M, Taqatqa N, Bentata M, Engal E, Siam A, Kay G, Drier Y, Elias S, Salton M. Dahan S, et al. Among authors: salton m. NAR Cancer. 2021 Jul 13;3(3):zcab029. doi: 10.1093/narcan/zcab029. eCollection 2021 Sep. NAR Cancer. 2021. PMID: 34316716 Free PMC article.
The chromatin roots of abnormal splicing in autism.
Engal E, Baker M, Salton M. Engal E, et al. Among authors: salton m. Trends Genet. 2022 Sep;38(9):892-894. doi: 10.1016/j.tig.2022.06.001. Epub 2022 Jun 21. Trends Genet. 2022. PMID: 35750536
Isoforms of the TAL1 transcription factor have different roles in hematopoiesis and cell growth.
Sharma A, Mistriel-Zerbib S, Najar RA, Engal E, Bentata M, Taqatqa N, Dahan S, Cohen K, Jaffe-Herman S, Geminder O, Baker M, Nevo Y, Plaschkes I, Kay G, Drier Y, Berger M, Salton M. Sharma A, et al. Among authors: salton m. PLoS Biol. 2023 Jun 28;21(6):e3002175. doi: 10.1371/journal.pbio.3002175. eCollection 2023 Jun. PLoS Biol. 2023. PMID: 37379322 Free PMC article.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: salton m. medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. PMID: 37425688 Free PMC article. Updated. Preprint.
The spectrum of pre-mRNA splicing in autism.
Engal E, Zhang Z, Geminder O, Jaffe-Herman S, Kay G, Ben-Hur A, Salton M. Engal E, et al. Among authors: salton m. Wiley Interdiscip Rev RNA. 2024 Mar-Apr;15(2):e1838. doi: 10.1002/wrna.1838. Wiley Interdiscip Rev RNA. 2024. PMID: 38509732 Review.
DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.
Engal E, Sharma A, Aviel U, Taqatqa N, Juster S, Jaffe-Herman S, Bentata M, Geminder O, Gershon A, Lewis R, Kay G, Hecht M, Epsztejn-Litman S, Gotkine M, Mouly V, Eiges R, Salton M, Drier Y. Engal E, et al. Among authors: salton m. Sci Adv. 2024 May 31;10(22):eadn7732. doi: 10.1126/sciadv.adn7732. Epub 2024 May 29. Sci Adv. 2024. PMID: 38809976 Free PMC article.
143 results