| Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. | Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.
Sharawat IK, Panda PK, Dawman L. | 11/13/2021 |
| MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. | MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
Pereira-Martins DA, Weinhäuser I, Coelho-Silva JL, França-Neto PL, Almeida LY, Bianco TM, Silva CL, França RF, Traina F, Rego EM, Schuringa JJ, Lucena-Araujo AR., Free PMC Article | 09/25/2021 |
| MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1. | MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.
Lee KH, Kim BC, Jeong CW, Ku JH, Kim HH, Kwak C., Free PMC Article | 08/28/2021 |
| ODLURO syndrome: personal experience and review of the literature. | ODLURO syndrome: personal experience and review of the literature.
Conforti R, Iovine S, Santangelo G, Capasso R, Cirillo M, Fratta M, Caranci F. | 03/6/2021 |
| Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH., Free PMC Article | 03/14/2020 |
| In the duloxetine-treated subsample (N=186), we observed suggestive associations with ZNF385D (rs4261893; beta=-0.46, P=1.55 x 10(-5)), NCAM1 (rs2303377; beta=0.45, P=1.76 x 10(-5)) and MLL5 (rs117986340; beta=0.91, P=3.04 x 10(-5)). | Genome-wide association studies of placebo and duloxetine response in major depressive disorder.
Maciukiewicz M, Marshe VS, Tiwari AK, Fonseka TM, Freeman N, Kennedy JL, Rotzinger S, Foster JA, Kennedy SH, Müller DJ. | 01/12/2019 |
| three dimensional structure of MLL5 SET domain unveils the structural basis for its lack of methyltransferase activity | The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity.
Mas-Y-Mas S, Barbon M, Teyssier C, Déméné H, Carvalho JE, Bird LE, Lebedev A, Fattori J, Schubert M, Dumas C, Bourguet W, le Maire A., Free PMC Article | 07/8/2017 |
| MLL5 preserves spindle bipolarity through maintaining cytosolic PLK1 in a nonaggregated form. | MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.
Zhao W, Liu J, Zhang X, Deng LW., Free PMC Article | 08/20/2016 |
| MLL5 interacts with OGT and USP7 to form a stable ternary complex. Upregulation of MLL5 expression was correlated with increased expression of OGT and USP7 in human primary cervical adenocarcinomas. | Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7).
Ding X, Jiang W, Zhou P, Liu L, Wan X, Yuan X, Wang X, Chen M, Chen J, Yang J, Kong C, Li B, Peng C, Wong CC, Hou F, Zhang Y., Free PMC Article | 07/16/2016 |
| Suggest a role for MLL5 and H3.3 in maintaining self-renewal hierarchies in adult glioblastomas. | MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin.
Gallo M, Coutinho FJ, Vanner RJ, Gayden T, Mack SC, Murison A, Remke M, Li R, Takayama N, Desai K, Lee L, Lan X, Park NI, Barsyte-Lovejoy D, Smil D, Sturm D, Kushida MM, Head R, Cusimano MD, Bernstein M, Clarke ID, Dick JE, Pfister SM, Rich JN, Arrowsmith CH, Taylor MD, Jabado N, Bazett-Jones DP, Lupien M, Dirks PB. | 04/23/2016 |
| O-GlcNAcylation of MLL5beta at T440 residue is critical for MLL5 recruitment to the HPV16/18-long control region through its interaction with AP-1. | O-GlcNAcylation of MLL5β is essential for MLL5β-AP-1 transcription complex assembly at the HPV16/18-long control region.
Nin DS, Huang W, Ali M, Yew CW, Kutateladze TG, Deng LW., Free PMC Article | 03/12/2016 |
| Improved outcome is observed in decitabine-treated patients who express MLL5 at high levels. | Impact of MLL5 expression on decitabine efficacy and DNA methylation in acute myeloid leukemia.
Yun H, Damm F, Yap D, Schwarzer A, Chaturvedi A, Jyotsana N, Lübbert M, Bullinger L, Döhner K, Geffers R, Aparicio S, Humphries RK, Ganser A, Heuser M., Free PMC Article | 04/11/2015 |
| KMT2E expression retained association with poor acute promyelocytic leukaemia remission rate and shorter survival while the association with disease-free survival was of marginal significance. | Prognostic impact of KMT2E transcript levels on outcome of patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and anthracycline-based chemotherapy: an International Consortium on Acute Promyelocytic Leukaemia study.
Lucena-Araujo AR, Kim HT, Jacomo RH, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Fagundes EM, de Lourdes Chauffaille M, Chiattone CS, Lima AS, Kwaan HC, Gallagher R, Niemeyer CM, Schrier SL, Tallman MS, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Löwenberg B, Sanz MA, Rego EM. | 09/20/2014 |
| NMR solution structure of the MLL5 PHD domain | Solution NMR structure and histone binding of the PHD domain of human MLL5.
Lemak A, Yee A, Wu H, Yap D, Zeng H, Dombrovski L, Houliston S, Aparicio S, Arrowsmith CH., Free PMC Article | 06/28/2014 |
| these results indicate that the suppression of MLL genes, especially MLL2 and MLL5, take part in modulating breast carcinogenesis. | Altered expression of MLL methyltransferase family genes in breast cancer.
Rabello Ddo A, de Moura CA, de Andrade RV, Motoyama AB, Silva FP. | 03/22/2014 |
| MLL5 is a cellular ligand for the natural cytotoxicity receptor NKp44. | Identification of a cellular ligand for the natural cytotoxicity receptor NKp44.
Baychelier F, Sennepin A, Ermonval M, Dorgham K, Debré P, Vieillard V. | 12/28/2013 |
| findings provide first insights into the molecular basis for the recruitment, exclusion, and regulation of MLL5 at chromatin | Molecular basis for chromatin binding and regulation of MLL5.
Ali M, Rincón-Arano H, Zhao W, Rothbart SB, Tong Q, Parkhurst SM, Strahl BD, Deng LW, Groudine M, Kutateladze TG., Free PMC Article | 10/19/2013 |
| MLL5 can associate with HCF-1 and then be recruited to E2F1-responsive promoters to stimulate H3K4 trimethylation and transcriptional activation. | Mixed lineage leukemia 5 (MLL5) protein regulates cell cycle progression and E2F1-responsive gene expression via association with host cell factor-1 (HCF-1).
Zhou P, Wang Z, Yuan X, Zhou C, Liu L, Wan X, Zhang F, Ding X, Wang C, Xiong S, Wang Z, Yuan J, Li Q, Zhang Y., Free PMC Article | 08/31/2013 |
| MLL5 functionally interacts with Borealin, facilitates the expression of chromosomal passenger complex, and hence contributes to mitotic fidelity and genomic integrity. | MLL5 maintains genomic integrity by regulating the stability of the chromosomal passenger complex through a functional interaction with Borealin.
Liu J, Cheng F, Deng LW., Free PMC Article | 04/27/2013 |
| A new isoform, MLL5beta, truncated in exon 14, regulates E6 & E7 transcription in cervical carcinoma cells. Interaction of MLL5beta with the AP-1-binding site at the distal region of the HPV18 long control region activated E6/E7 transcription. | A novel MLL5 isoform that is essential to activate E6 and E7 transcription in HPV16/18-associated cervical cancers.
Yew CW, Lee P, Chan WK, Lim VK, Tay SK, Tan TM, Deng LW. | 01/14/2012 |
| High MLL5 expression levels are associated with a favorable outcome and may improve risk and treatment stratification in acute myeloid leukemia | Prognostic importance of histone methyltransferase MLL5 expression in acute myeloid leukemia.
Damm F, Oberacker T, Thol F, Surdziel E, Wagner K, Chaturvedi A, Morgan M, Bomm K, Göhring G, Lübbert M, Kanz L, Fiedler W, Schlegelberger B, Heil G, Schlenk RF, Döhner K, Döhner H, Krauter J, Ganser A, Heuser M. | 04/2/2011 |
| Phosphorylation of MLL5 may have an indispensable role in the mitotic progression in mixed lineage leukemia cells. | Phosphorylation of mixed lineage leukemia 5 by CDC2 affects its cellular distribution and is required for mitotic entry.
Liu J, Wang XN, Cheng F, Liou YC, Deng LW., Free PMC Article | 08/16/2010 |
| These findings provide evidence that MLL5 might be an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. | RNA interference against mixed lineage leukemia 5 resulted in cell cycle arrest.
Cheng F, Liu J, Zhou SH, Wang XN, Chew JF, Deng LW. | 01/21/2010 |
| MLL5 protein has been classified into a distinct subfamily with SETD5, because its SET domain and domain architecture show high homology with SETD5 rather than the members in MLL subfamily (i.e. MLL, MLL2, MLL3 and MLL4) | Genome-wide survey and developmental expression mapping of zebrafish SET domain-containing genes.
Sun XJ, Xu PF, Zhou T, Hu M, Fu CT, Zhang Y, Jin Y, Chen Y, Chen SJ, Huang QH, Liu TX, Chen Z., Free PMC Article | 05/12/2008 |
| MLL5 forms intranuclear protein complexes that may play an important role in chromatin remodeling and cellular growth suppression. | MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression.
Deng LW, Chiu I, Strominger JL., Free PMC Article | 01/21/2010 |