Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey C, Dunlap S, Gehrs L, Lee H, Kim HG, Sah JP, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE, Lim SS, Ahn EE. A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis. (2024) JCI Insight, Mar 8;9(5):e175053. Doi: 10.1172/jci.insight.175053

Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A, Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim ST, Ahn EE. SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity. (2021) Nature Communications. 12, 5551. Doi: https://doi.org/10.1038/s41467-021-25892-x

Our Nature Communications paper was selected and featured in the UAB Heersink School of Medicine’s Featured Discovery! BIG Kudos for all our co-authors! Click here to read the article introducing our paper.

Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Fisher KM, Gerkes E, 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 E, Vulto-van Silfhout A, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. (2021) European Journal of Human Genetics, https://doi.org/10.1038/s41431-021-00960-4

Stone JK, Vukadin L, Ahn EE. eNEMAL, an enhancer RNA transcribed from a distal MALAT1 enhancer, promotes NEAT1 long isoform expression. PLoS One. 2021, May 21; 16(5):e-251515. doi: 10.1371/journal.pone.0251515.

Murphy JM, Rodriguez YAR, Jeong K, Ahn EE, Lim SS. Targeting focal adhesion kinase in cancer cells and the tumor microenvironment. Exp Mol Med. 2020 Jun;52(6):877-886. doi: 10.1038/s12276-020-0447-4. Epub 2020 Jun 9. Review. PubMed PMID: 32514188; PubMed Central PMCID: PMC7338452.

Jeong K, Murphy JM, Ahn EE, Lim ST, FAK in the nucleus prevents VSMC proliferation by promoting p27 and p21 expression via Skp2 degradation. Cardiovasc Res. 2021 doi: 10.1093/cvr/cvab132.

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. SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia. Cancer Gene Ther. 2020 Nov 27;. doi: 10.1038/s41417-020-00262-9. [Epub ahead of print] PubMed PMID: 33247227; NIHMSID:NIHMS1645598.

Jeong K, Murphy JM, Rodriguez YAR, Kim JS, Ahn EE, Lim SS. FAK inhibition reduces metastasis of α4 integrin-expressing melanoma to lymph nodes by targeting lymphatic VCAM-1 expression. Biochem Biophys Res Commun. 2019 Feb 19;509(4):1034-1040. doi: 10.1016/j.bbrc.2019.01.050. Epub 2019 Jan 17. PubMed PMID: 30660359; PubMed Central PMCID: PMC6350924.

Murphy JM, Jeong K, Rodriguez YAR, Kim JH, Ahn EE, Lim SS. FAK and Pyk2 activity promote TNF-α and IL-1β-mediated pro-inflammatory gene expression and vascular inflammation. Sci Rep. 2019 May 20;9(1):7617. doi: 10.1038/s41598-019-44098-2. PubMed PMID: 31110200; PubMed Central PMCID: PMC6527705.

Jeong K, Kim JH, Murphy JM, Park H, Kim SJ, Rodriguez YAR, Kong H, Choi C, Guan JL, Taylor JM, Lincoln TM, Gerthoffer WT, Kim JS, Ahn EE, Schlaepfer DD, Lim SS. Nuclear Focal Adhesion Kinase Controls Vascular Smooth Muscle Cell Proliferation and Neointimal Hyperplasia Through GATA4-Mediated Cyclin D1 Transcription. Circ Res. 2019 Jul 5;125(2):152-166. doi: 10.1161/CIRCRESAHA.118.314344. Epub 2019 May 17. PubMed PMID: 31096851; PubMed Central PMCID: PMC6702425.

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. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15. PubMed PMID: 31005274; PubMed Central PMCID: PMC6534475.

Stone JK, Kim JH, Vukadin L, Richard A, Giannini HK, Lim SS, Tan M, Ahn EE. Hypoxia induces cancer cell-specific chromatin interactions and increases MALAT1 expression in breast cancer cells. J Biol Chem. 2019 Jul 19;294(29):11213-11224. doi: 10.1074/jbc.RA118.006889. Epub 2019 Jun 5. PubMed PMID: 31167784; PubMed Central PMCID: PMC6643033.

Alhajala HS, Nguyen HS, Shabani S, Best B, Kaushal M, Al-Gizawiy MM, Erin Ahn EY, Knipstein JA, Mirza S, Schmainda KM, Chitambar CR, Doan NB. Irradiation of pediatric glioblastoma cells promotes radioresistance and enhances glioma malignancy via genome-wide transcriptome changes. Oncotarget2018 Sep 25;9(75):34122-34131. doi: 10.18632/oncotarget.26137. eCollection 2018 Sep 25. PubMed PMID: 30344926; PubMed Central PMCID: PMC6183347.

Doan NB, Nguyen HS, Alhajala HS, Jaber B, Al-Gizawiy MM, Ahn EE, Mueller WM, Chitambar CR, Mirza SP, Schmainda KM. Identification of radiation responsive genes and transcriptome profiling via complete RNA sequencing in a stable radioresistant U87 glioblastoma model. Oncotarget. 2018 May 4;9(34):23532-23542. doi: 10.18632/oncotarget.25247. eCollection 2018 May 4. PubMed PMID: 29805753; PubMed Central PMCID: PMC5955095.

Li J, Svilar D, McClellan S, Kim JH, Ahn EE, Vens C, Wilson DM 3rd, Sobol RW. DNA Repair Molecular Beacon assay: a platform for real-time functional analysis of cellular DNA repair capacity. Oncotarget. 2018 Aug 3;9(60):31719-31743. doi: 10.18632/oncotarget.25859. eCollection 2018 Aug 3. PubMed PMID: 30167090; PubMed Central PMCID: PMC6114979

Dementiev A, Joachimiak A, Nguyen H, Gorelik A, Illes K, Shabani S, Gelsomino M, Ahn EE, Nagar B, Doan N. Molecular Mechanism of Inhibition of Acid Ceramidase by Carmofur. J Med Chem. 2019 Jan 24;62(2):987-992. doi: 10.1021/acs.jmedchem.8b01723. Epub 2018 Dec 19. PubMed PMID: 30525581; PubMed Central PMCID: PMC6863082.

Kim JH, Baddoo MC, Park EY, Stone JK, Park H, Butler TW, Huang G, Yan X, Pauli-Behn F, Myers RM, Tan M, Flemington EK, Lim ST, Ahn EY.   SON and its alternatively spliced isoforms control MLL complex-mediated H3K4me3 and transcription of leukemia-associated genes. Mol Cell (2016) 61:859-873. DOI: 10.1016/j.molcel.2016.02.024 

Liu Z, Smith KR, Khong HT, Huang J, Ahn EE, Zhou M, Tan M. miR-125b regulates differentiation and metabolic reprogramming of T cell acute lymphoblastic leukemia by directly targeting A20. Oncotarget. 2016 Nov 29;7(48):78667-78679. doi: 10.18632/oncotarget.12018. PubMed PMID: 27637078; PubMed Central PMCID: PMC5346668.

Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. PubMed PMID: 27545680; PubMed Central PMCID: PMC5011044.

UAB News highlighted our research and the ZTTK SON-Shine Foundation: UAB researcher shines light on a rare disease that causes developmental and intellectual delays

Schmitt DC, Madeira da Silva L, Zhang W, Liu Z, Arora R, Lim S, Schuler AM, McClellan S, Andrews JF, Kahn AG, Zhou M, Ahn EY, Tan M. ErbB2-intronic microRNA-4728: a novel tumor suppressor and antagonist of oncogenic MAPK signaling. Cell Death Dis. 2015 May 7;6:e1742. doi: 10.1038/cddis.2015.116. PubMed PMID: 25950472; PubMed Central PMCID: PMC4669696.

Hickey CJ, Kim JH, Ahn EY. New discoveries of old SON: a link between RNA splicing and cancer. J Cell Biochem. 2014 Feb;115(2):224-31. doi: 10.1002/jcb.24672. PubMed PMID: 24030980.

Kim JH, Ahn EY. Transcript variants of RUNX1T1: new insight into t(8;21)-positive leukemia. Leuk Res. 2014 Sep;38(9):1018-9. doi: 10.1016/j.leukres.2014.06.023. Epub 2014 Jul 8. PubMed PMID: 25052308.

Other Selected Publications

Ahn EE, Higashi T, Yan M, Matsuura S, Hickey CJ, Lo MC, Shia WJ, DeKelver RC, Zhang DE. SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.J Biol Chem. 2013 Feb 22;288(8):5381-8. doi: 10.1074/jbc.M112.447227. Epub 2013 Jan 14. PubMed PMID: 23322776; PubMed Central PMCID: PMC3581430.

Ahn EY, DeKelver RC, Lo MC, Nguyen TA, Matsuura S, Boyapati A, Pandit S, Fu XD, Zhang DESON controls cell-cycle progression by coordinated regulation of RNA splicing. Mol Cell. 2011 Apr 22;42(2):185-98. doi: 10.1016/j.molcel.2011.03.014. PubMed PMID: 21504830; PubMed Central PMCID: PMC3137374.

Ahn EY, Yan M, Malakhova OA, Lo MC, Boyapati A, Ommen HB, Hines R, Hokland P, Zhang DE. Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis. Proc Natl Acad Sci U S A. 2008 Nov 4;105(44):17103-8. 

Ahn EY, Lim ST, Cook WJ, McDonald JMCalmodulin binding to the Fas death domain. Regulation by Fas activation. J Biol Chem. 2004 Feb 13;279(7):5661-6. doi: 10.1074/jbc.M311040200. Epub 2003 Oct 31. PubMed PMID: 14594800.

Ahn EY, Pan G, Oh JH, Tytler EM, McDonald JM. The combination of calmodulin antagonists and interferon-gamma induces apoptosis through caspase-dependent and -independent pathways in cholangiocarcinoma cells. Am J Pathol2003 Nov;163(5):2053-63. doi: 10.1016/s0002-9440(10)63563-8. PubMed PMID: 14578204; PubMed Central PMCID: PMC1892439.

Ahn EY, Pan G, Vickers SM, McDonald JM. IFN-gammaupregulates apoptosis-related molecules and enhances Fas-mediated apoptosis in human cholangiocarcinoma. Int J Cancer2002 Aug 1;100(4):445-51. doi: 10.1002/ijc.10516. PubMed PMID: 12115528.