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A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE 3rd, Lim SS, Ahn EE. Vukadin L, et al. bioRxiv [Preprint]. 2023 Nov 19:2023.11.19.567732. doi: 10.1101/2023.11.19.567732. bioRxiv. 2023. PMID: 38014320 Free PMC article. Updated. Preprint.
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE. Kim JH, et al. Among authors: vukadin l. Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15. Kidney Int. 2019. PMID: 31005274 Free PMC article.
A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Sah JP, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE 3rd, Lim SS, Ahn EE. Vukadin L, et al. JCI Insight. 2024 Mar 8;9(5):e175053. doi: 10.1172/jci.insight.175053. JCI Insight. 2024. PMID: 38290089 Free PMC article.