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    AFF1 ALF transcription elongation factor 1 [ Homo sapiens (human) ]

    Gene ID: 4299, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion.

    Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion.
    Tretti Parenzan C, Molin AD, Longo G, Gaffo E, Buratin A, Cani A, Boldrin E, Serafin V, Guglielmelli P, Vannucchi AM, Cazzaniga G, Biondi A, Locatelli F, Meyer LH, Buldini B, Te Kronnie G, Bresolin S, Bortoluzzi S., Free PMC Article

    03/5/2024
    [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis].

    [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis].
    Mu J, Xu Y, Zhu H., Free PMC Article

    06/21/2023
    The role of reciprocal fusions in MLL-r acute leukemia: studying the chromosomal translocation t(4;11).

    The role of reciprocal fusions in MLL-r acute leukemia: studying the chromosomal translocation t(4;11).
    Wilhelm A, Marschalek R., Free PMC Article

    01/1/2022
    miR-130b and miR-128a are essential lineage-specific codrivers of t(4;11) MLL-AF4 acute leukemia.

    miR-130b and miR-128a are essential lineage-specific codrivers of t(4;11) MLL-AF4 acute leukemia.
    Malouf C, Antunes ETB, O'Dwyer M, Jakobczyk H, Sahm F, Landua SL, Anderson RA, Soufi A, Halsey C, Ottersbach K.

    12/25/2021
    Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair.

    Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair.
    Russo A, Viberti C, Mareschi K, Casalone E, Guarrera S, Birolo G, Cazzaniga G, Corral L, Trentin L, Basso G, Fagioli F, Matullo G., Free PMC Article

    11/6/2021
    Prognostic impact of KMT2A-AFF1-positivity in 926 BCR-ABL1-negative B-lineage acute lymphoblastic leukemia patients treated in GIMEMA clinical trials since 1996.

    Prognostic impact of KMT2A-AFF1-positivity in 926 BCR-ABL1-negative B-lineage acute lymphoblastic leukemia patients treated in GIMEMA clinical trials since 1996.
    Piciocchi A, Messina M, Elia L, Vitale A, Soddu S, Testi AM, Chiaretti S, Mancini M, Albano F, Spadano A, Krampera M, Bonifacio M, Cairoli R, Vetro C, Colella F, Ferrara F, Cimino G, Bassan R, Fazi P, Vignetti M.

    10/2/2021
    Suppression of the NTS-CPS1 regulatory axis by AFF1 in lung adenocarcinoma cells.

    Suppression of the NTS-CPS1 regulatory axis by AFF1 in lung adenocarcinoma cells.
    Yue J, Dai Q, Hao S, Zhu S, Liu X, Tang Z, Li M, Fang H, Lin C, Luo Z., Free PMC Article

    08/28/2021
    Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells.

    Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells.
    Fioretti T, Cevenini A, Zanobio M, Raia M, Sarnataro D, Cattaneo F, Ammendola R, Esposito G., Free PMC Article

    05/29/2021
    HOXA9/IRX1 expression pattern defines two subgroups of infant MLL-AF4-driven acute lymphoblastic leukemia.

    HOXA9/IRX1 expression pattern defines two subgroups of infant MLL-AF4-driven acute lymphoblastic leukemia.
    Symeonidou V, Ottersbach K., Free PMC Article

    04/24/2021
    Osteopontin-c is overexpressed in KMT2A-AFF1 positive pediatric B-cell lymphoblastic leukemia when compared to those with ETV6-RUNX1"".

    Osteopontin-c is overexpressed in KMT2A-AFF1 positive pediatric B-cell lymphoblastic leukemia when compared to those with ETV6-RUNX1".
    da Fonseca Bastos ACS, da Silva Rezende AC, Ferreira LB, Blunck CB, Pombo-de-Oliveira MS, Emerenciano M, Gimba ERP.

    10/10/2020
    The data indicates that AFF1 inhibits adipogenic differentiation by regulating the transcription of TGM2.

    AFF1 inhibits adipogenic differentiation via targeting TGM2 transcription.
    Chen Y, Wang Y, Lin W, Sheng R, Wu Y, Xu R, Zhou C, Yuan Q., Free PMC Article

    07/11/2020
    we describe a functional and molecular cooperation between MA4 and A4M fusions during human hematopoietic development, and demonstrate how hESC-based hematopoietic differentiation represents a promising system to explore the developmental impact of the chimeric proteins resulting from chromosomal translocations, which remains obscure in human leukemia.

    Enhanced hemato-endothelial specification during human embryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions.
    Bueno C, Calero-Nieto FJ, Wang X, Valdés-Mas R, Gutiérrez-Agüera F, Roca-Ho H, Ayllon V, Real PJ, Arambilet D, Espinosa L, Torres-Ruiz R, Agraz-Doblas A, Varela I, de Boer J, Bigas A, Gottgens B, Marschalek R, Menendez P., Free PMC Article

    05/23/2020
    the scaffold protein 14-3-3theta; enhances the aberrant activity of the chimeric transcription factor MLL-AF4 and, therefore, represents a new player in the molecular pathogenesis of t(4;11)-positive leukemia

    Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.
    Fioretti T, Cevenini A, Zanobio M, Raia M, Sarnataro D, Salvatore F, Esposito G.

    04/11/2020
    Our study represents the first report assessing the association of AFF1 rs340630 polymorphism with rheumatoid arthritis risk. No significant evidence was found for the dominant or recessive models.

    Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population.
    Sun QQ, Hua DJ, Huang SC, Cen H, Zhou L, Shao S., Free PMC Article

    06/16/2018
    Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.

    Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation.
    Ajuba IC, Madu AJ, Okocha C, Ibegbulam OG, Okpala I, Nna OE.

    02/17/2018
    There was no association between AFF1 polymorphism (rs340630) and systemic lupus erythematosus. However, our findings indicated that AFF1 polymorphism (rs340630) was significantly (P=0.0045) correlated with renal disorder in Iranian population

    Association Study of an AFF1 Gene Polymorphism (rs340630) with Iranian Systemic Lupus Erythematosus Patients.
    Arabi E, Garshasbi M, Jamshidi AR, Khalesi R, Ahmadzadeh N, Akbarian M, Mahmoudi M.

    10/21/2017
    MLL-AF4 fusion is associated with acute myeloid leukemia.

    MLL-AF9 and MLL-AF4 oncofusion proteins bind a distinct enhancer repertoire and target the RUNX1 program in 11q23 acute myeloid leukemia.
    Prange KHM, Mandoli A, Kuznetsova T, Wang SY, Sotoca AM, Marneth AE, van der Reijden BA, Stunnenberg HG, Martens JHA., Free PMC Article

    10/14/2017
    These results reveal a cooperative transcriptional activation mechanism of AEP and DOT1L and suggest a molecular rationale for the simultaneous inhibition of the MLL fusion-AF4 complex and DOT1L for more effective treatment of MLL-rearranged leukemia.

    Cooperative gene activation by AF4 and DOT1L drives MLL-rearranged leukemia.
    Okuda H, Stanojevic B, Kanai A, Kawamura T, Takahashi S, Matsui H, Takaori-Kondo A, Yokoyama A., Free PMC Article

    09/16/2017
    Loss of MLL-AF4 activity results in a reduction of H3K79me3 levels in the gene body and H3K27Ac levels at the 3' BCL-2 enhancer, revealing a novel regulatory link between these two histone marks and MLL-AF4-mediated activation of BCL-2.

    MLL-AF4 binds directly to a BCL-2 specific enhancer and modulates H3K27 acetylation.
    Godfrey L, Kerry J, Thorne R, Repapi E, Davies JO, Tapia M, Ballabio E, Hughes JR, Geng H, Konopleva M, Milne TA., Free PMC Article

    06/10/2017
    AF4 and AF4-MLL mediate transcriptional elongation of 5-lipoxygenase mRNA by 1, 25-dihydroxyvitamin D3.

    AF4 and AF4-MLL mediate transcriptional elongation of 5-lipoxygenase mRNA by 1, 25-dihydroxyvitamin D3.
    Ahmad K, Scholz B, Capelo R, Schweighöfer I, Kahnt AS, Marschalek R, Steinhilber D., Free PMC Article

    07/30/2016
    AF4 bindsto SL1 to initiate MLL fusion- and AEP-dependent transcription.

    AF4 uses the SL1 components of RNAP1 machinery to initiate MLL fusion- and AEP-dependent transcription.
    Okuda H, Kanai A, Ito S, Matsui H, Yokoyama A., Free PMC Article

    07/2/2016
    Report generation of MLL/AF4 transgenic mice with the phenotype of lymphoblastic leukemia or lymphoma.

    Establishment of MLL/AF4 transgenic mice with the phenotype of lymphoblastic leukemia or lymphoma.
    Tamai H, Inokuchi K.

    04/5/2014
    AFF1 is a ubiquitous P-TEFb partner; full Tat transactivation requires the complete super elongation complexes

    AFF1 is a ubiquitous P-TEFb partner to enable Tat extraction of P-TEFb from 7SK snRNP and formation of SECs for HIV transactivation.
    Lu H, Li Z, Xue Y, Schulze-Gahmen U, Johnson JR, Krogan NJ, Alber T, Zhou Q., Free PMC Article

    03/15/2014
    The FLT3-mediated inhibition of hematopoiesis in MLL-AF4-expressing human embryonic stem cells is associated with large transcriptional changes and downregulation of genes involved in hematopoietic system development and function.

    FLT3 activation cooperates with MLL-AF4 fusion protein to abrogate the hematopoietic specification of human ESCs.
    Bueno C, Ayllón V, Montes R, Navarro-Montero O, Ramos-Mejia V, Real PJ, Romero-Moya D, Araúzo-Bravo MJ, Menendez P.

    07/27/2013
    The structure of AF9 in complex with elongation factor AF4 reveals that aliphatic residues form an integral part of the hydrophobic core of the complex.

    Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding.
    Leach BI, Kuntimaddi A, Schmidt CR, Cierpicki T, Johnson SA, Bushweller JH., Free PMC Article

    07/6/2013
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