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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Dingemans AJM, et al. Among authors: ahn ee. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15. Eur J Hum Genet. 2022. PMID: 34521999 Free PMC article.
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: ahn ee. 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.
SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia.
Vukadin L, Kim JH, Park EY, Stone JK, Ungerleider N, Baddoo MC, Kong HK, Richard A, Tran J, Giannini H, Flemington EK, Lim SS, Ahn EE. Vukadin L, et al. Among authors: ahn ee. Cancer Gene Ther. 2021 Sep;28(9):1000-1015. doi: 10.1038/s41417-020-00262-9. Epub 2020 Nov 27. Cancer Gene Ther. 2021. PMID: 33247227 Free PMC article.
son is necessary for proper vertebrate blood development.
Belmonte RL, Engbretson IL, Kim JH, Cajias I, Ahn EE, Stachura DL. Belmonte RL, et al. Among authors: ahn ee. PLoS One. 2021 Feb 25;16(2):e0247489. doi: 10.1371/journal.pone.0247489. eCollection 2021. PLoS One. 2021. PMID: 33630943 Free PMC article.
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. Among authors: ahn ee. 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.
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. Among authors: ahn ee. JCI Insight. 2024 Mar 8;9(5):e175053. doi: 10.1172/jci.insight.175053. JCI Insight. 2024. PMID: 38290089 Free PMC article.
29 results