| SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer. | SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer.
Phillips JB, Park SS, Lin CH, Cho J, Lim S, Aurora R, Kim JH, Angajala A, Park B, Stone JK, Wang B, Kahn AG, Lim SS, Kim JH, Ahn EE, Tan M., | 11/7/2024 |
| SON is an essential m[6]A target for hematopoietic stem cell fate. | SON is an essential m(6)A target for hematopoietic stem cell fate.
Luo H, Cortés-López M, Tam CL, Xiao M, Wakiro I, Chu KL, Pierson A, Chan M, Chang K, Yang X, Fecko D, Han G, Ahn EE, Morris QD, Landau DA, Kharas MG., Free PMC Article | 01/11/2024 |
| Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient. | Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
Tang S, You J, Liu L, Ouyang H, Jiang N, Duan J, Li C, Luo Y, Zhang W, Zhan M, Liu C, Lyu GZ, Zhang VW, Zhao H., Free PMC Article | 09/6/2023 |
| Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON. | 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., Free PMC Article | 07/30/2022 |
| ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. | ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG, DDD Study, TUDP Consortium, Anyane Yeboa K., Free PMC Article | 03/5/2022 |
| SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia. | 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., Free PMC Article | 02/26/2022 |
| The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis. | The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis.
Stemm-Wolf AJ, O'Toole ET, Sheridan RM, Morgan JT, Pearson CG., Free PMC Article | 02/12/2022 |
| SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity. | SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity.
Kim JH, Jeong K, Li J, Murphy JM, Vukadin L, Stone JK, Richard A, Tran J, Gillespie GY, Flemington EK, Sobol RW, Lim SS, Ahn EE., Free PMC Article | 10/16/2021 |
| Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. | Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R., Free PMC Article | 06/5/2021 |
| SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection. | SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.
Gregory DJ, DeLoid GM, Salmon SL, Metzger DW, Kramnik I, Kobzik L., Free PMC Article | 05/15/2021 |
| SON and SRRM2 are essential for nuclear speckle formation. | SON and SRRM2 are essential for nuclear speckle formation.
Ilik İA, Malszycki M, Lübke AK, Schade C, Meierhofer D, Aktaş T., Free PMC Article | 03/28/2021 |
| SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. | 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., Free PMC Article | 09/26/2020 |
| We found that SON and SC35 (also known as SRSF2) localize to the central region of the speckle, whereas MALAT1 and small nuclear (sn)RNAs are enriched at the speckle periphery. | Quantitative analysis of multilayer organization of proteins and RNA in nuclear speckles at super resolution.
Fei J, Jadaliha M, Harmon TS, Li ITS, Hua B, Hao Q, Holehouse AS, Reyer M, Sun Q, Freier SM, Pappu RV, Prasanth KV, Ha T., Free PMC Article | 07/21/2018 |
| we have established that haploinsufficiency of SON causes a new recognizable syndrome of intellectual disability. SON is located within 21q22.11, a critical region for Braddock-Carey syndrome, therefore, we suggest that the intellectual disability observed in Braddock-Carey syndrome could be accounted for by haploinsufficiency of SON. | Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. | 10/21/2017 |
| data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development. | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
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, University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Deciphering Developmental Disorders Study, 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., Free PMC Article | 05/6/2017 |
| description of seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA., Free PMC Article | 05/6/2017 |
| progenitors. Our findings define SON as a fine-tuner of the MLL-menin interaction and reveal short SON overexpression as a marker indicating aberrant transcriptional initiation in leukemia. | SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated Genes.
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., Free PMC Article | 08/6/2016 |
| Here, we summarize available information from several early studies on SON, and highlight recent discoveries describing molecular mechanisms of SON-mediated gene regulation. | New discoveries of old SON: a link between RNA splicing and cancer.
Hickey CJ, Kim JH, Ahn EY. | 07/26/2014 |
| identify the spliceosome-associated factor SON as a factor essential for the maintenance of hESCs | SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.
Lu X, Göke J, Sachs F, Jacques PÉ, Liang H, Feng B, Bourque G, Bubulya PA, Ng HH., Free PMC Article | 12/21/2013 |
| Studied knockdown screening of 78 MAPK-associated molecules associated with proliferation of pancreatic cancer cells in vitro. Knockdown of SON substantially suppressed pancreatic cancer cell proliferation and survival in vitro and tumorigenicity in vivo. | Targeting of MAPK-associated molecules identifies SON as a prime target to attenuate the proliferation and tumorigenicity of pancreatic cancer cells.
Furukawa T, Tanji E, Kuboki Y, Hatori T, Yamamoto M, Shimizu K, Shibata N, Shiratori K., Free PMC Article | 09/28/2013 |
| SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster | SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.
Ahn EE, Higashi T, Yan M, Matsuura S, Hickey CJ, Lo MC, Shia WJ, DeKelver RC, Zhang DE., Free PMC Article | 04/27/2013 |
| The data show that Son-regulated splicing encompasses all known types of alternative splicing, the most common being alternative splicing of cassette exons. | Son maintains accurate splicing for a subset of human pre-mRNAs.
Sharma A, Markey M, Torres-Muñoz K, Varia S, Kadakia M, Bubulya A, Bubulya PA., Free PMC Article | 07/7/2012 |
| The identification of the RNA/DNA-binding protein SON as a component of spliceosome that plays pleiotropic roles during mitotic progression, is reported. | SON is a spliceosome-associated factor required for mitotic progression.
Huen MS, Sy SM, Leung KM, Ching YP, Tipoe GL, Man C, Dong S, Chen J., Free PMC Article | 06/18/2011 |
| Results reveal a mechanism for controlling cell-cycle progression through SON-dependent constitutive splicing at suboptimal splice sites, with strong implications for its role in cancer and other human diseases. | SON controls cell-cycle progression by coordinated regulation of RNA splicing.
Ahn EY, DeKelver RC, Lo MC, Nguyen TA, Matsuura S, Boyapati A, Pandit S, Fu XD, Zhang DE., Free PMC Article | 06/18/2011 |
| Data suggest that Son is essential for appropriate subnuclear organization of pre-mRNA splicing factors and for promoting normal cell cycle progression. | Son is essential for nuclear speckle organization and cell cycle progression.
Sharma A, Takata H, Shibahara K, Bubulya A, Bubulya PA., Free PMC Article | 07/26/2010 |