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    GFI1B growth factor independent 1B transcriptional repressor [ Homo sapiens (human) ]

    Gene ID: 8328, updated on 17-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.

    GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.
    Venhuizen J, van Bergen MGJM, Bergevoet SM, Gilissen D, Spruijt CG, Wingens L, van den Akker E, Vermeulen M, Jansen JH, Martens JHA, van der Reijden BA., Free PMC Article

    04/4/2024
    Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.

    Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
    Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinøe E, Böckelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A.

    03/26/2024
    Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.

    Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.
    Suurmeijer AJH, Cleven AHG, Antonescu CR, Duckworth LA, Fritchie KJ, Billings SD, Dermawan JK.,

    11/13/2023
    GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.

    GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia.
    Liu L, Patnana PK, Xie X, Frank D, Nimmagadda SC, Su M, Zhang D, Koenig T, Rosenbauer F, Liebmann M, Klotz L, Xu W, Vorwerk J, Neumann F, Hüve J, Unger A, Okun JG, Opalka B, Khandanpour C., Free PMC Article

    09/10/2022
    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
    Faleschini M, Papa N, Morel-Kopp MC, Marconi C, Giangregorio T, Melazzini F, Bozzi V, Seri M, Noris P, Pecci A, Savoia A, Bottega R., Free PMC Article

    04/2/2022
    Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.

    Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B.
    Chakraborty M, Das RK, Samal S, Das S, Alone DP.

    02/26/2022
    Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.

    Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.
    van Bergen MGJM, van Oorschot R, Bergevoet SM, de Graaf AO, Tönnissen ELRTM, Stevens-Linders E, Neveling K, Jansen PWTC, Baltissen MPA, Vermeulen M, Mandoli A, Martens JHA, Preijers F, Jansen JH, van der Reijden BA.

    01/1/2022
    The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.

    The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
    Fraszczak J, Möröy T.

    10/30/2021
    Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.

    Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
    Van Bergen MGJM, Marneth AE, Hoogendijk AJ, Van Alphen FPJ, Van den Akker E, Laros-Van Gorkom BAP, Hoeks M, Simons A, De Munnik SA, Janssen JJWM, Martens JHA, Jansen JH, Meijer AB, Van der Reijden BA.

    07/31/2021
    Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.

    Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
    Beauchemin H, Shooshtharizadeh P, Pinder J, Dellaire G, Möröy T., Free PMC Article

    05/1/2021
    Human yolk sac-like haematopoiesis generates RUNX1-, GFI1- and/or GFI 1B-dependent blood and SOX17-positive endothelium.

    Human yolk sac-like haematopoiesis generates RUNX1-, GFI1- and/or GFI1B-dependent blood and SOX17-positive endothelium.
    Bruveris FF, Ng ES, Leitoguinho AR, Motazedian A, Vlahos K, Sourris K, Mayberry R, McDonald P, Azzola L, Davidson NM, Oshlack A, Stanley EG, Elefanty AG., Free PMC Article

    01/2/2021
    Loss of myeloid-specific lamin A/C drives lung metastasis through Gfi-1 and C/EBPepsilon-mediated granulocytic differentiation.

    Loss of myeloid-specific lamin A/C drives lung metastasis through Gfi-1 and C/EBPε-mediated granulocytic differentiation.
    Ishii H, Park WY, So J, Kuhn S, Koparde VN, Pang Y, Greten TF, Hollander MC, Yang L., Free PMC Article

    09/12/2020
    We conclude that Q89fs, C168F, H181Y, and R184P affect GFI1B function, but are not necessarily sufficient to cause bleedings on their own.

    Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
    van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL, NIHR BioResource Collaborative Group, Downes K, Freson K, van der Reijden BA., Free PMC Article

    05/23/2020
    Findings demonstrate the central role of the GFI1B-LSD1 interaction as a determinant of BRAF-histone deacetylase complex recruitment to enable cell fate decisions driven by GFI1B.

    Growth Factor Independence 1B-Mediated Transcriptional Repression and Lineage Allocation Require Lysine-Specific Demethylase 1-Dependent Recruitment of the BHC Complex.
    McClellan D, Casey MJ, Bareyan D, Lucente H, Ours C, Velinder M, Singer J, Lone MD, Sun W, Coria Y, Mason CC, Engel ME., Free PMC Article

    02/8/2020
    Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.

    Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.
    Cheng AN, Bao EL, Fiorini C, Sankaran VG., Free PMC Article

    01/25/2020
    Gfi1b functions as an oncosuppressor in MDS and AML development.

    Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome.
    Thivakaran A, Botezatu L, Hönes JM, Schütte J, Vassen L, Al-Matary YS, Patnana P, Zeller A, Heuser M, Thol F, Gabdoulline R, Olberding N, Frank D, Suslo M, Köster R, Lennartz K, Görgens A, Giebel B, Opalka B, Dührsen U, Khandanpour C., Free PMC Article

    07/20/2019
    A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.

    A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
    Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N.

    03/30/2019
    Disruption of GFI1B non-DNA-binding zinc-finger 1 is associated with mild to moderate thrombocytopenia without alpha-granule deficiency or bleeding symptomatology, indicating that the site of GFI1B mutation has important phenotypic implications. Platelet CD34 expression appears to be a common feature of perturbed GFI1B function.

    Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.
    Rabbolini DJ, Morel-Kopp MC, Chen Q, Gabrielli S, Dunlop LC, Chew LP, Blair N, Brighton TA, Singh N, Ng AP, Ward CM, Stevenson WS.

    07/7/2018
    Platelet CD34 expression and alpha/delta-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders.

    Platelet CD34 expression and α/δ-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders.
    Marneth AE, van Heerde WL, Hebeda KM, Laros-van Gorkom BA, Barteling W, Willemsen B, de Graaf AO, Simons A, Jansen JH, Preijers F, Jongmans MC, van der Reijden BA.

    01/20/2018
    GFI1B is an essential protein for the normal development of the megakaryocyte lineage

    Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.
    Kitamura K, Okuno Y, Yoshida K, Sanada M, Shiraishi Y, Muramatsu H, Kobayashi R, Furukawa K, Miyano S, Kojima S, Ogawa S, Kunishima S.

    01/13/2018
    High GFI1B expression is associated with small-cell lung cancer.

    LSD1 Inhibitor T-3775440 Inhibits SCLC Cell Proliferation by Disrupting LSD1 Interactions with SNAG Domain Proteins INSM1 and GFI1B.
    Takagi S, Ishikawa Y, Mizutani A, Iwasaki S, Matsumoto S, Kamada Y, Nomura T, Nakamura K.

    11/4/2017
    Results demonstrate that alpha-delta platelet storage pool deficiency is associated with either a heterozygous mutation in GFI1B (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations leading to autosomal recessive inheritance.

    Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
    Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA., Free PMC Article

    09/2/2017
    study demonstrates the significance of Gfi1b regulated Kindlin3-Talin1 expression in driving megakaryocytic differentiation and highlights the contribution of cytoskeletal agents in the developmental progression of these platelet progenitors

    Cooperative Stimulation of Megakaryocytic Differentiation by Gfi1b Gene Targets Kindlin3 and Talin1.
    Singh D, Upadhyay G, Sengupta A, Biplob MA, Chakyayil S, George T, Saleque S., Free PMC Article

    06/24/2017
    Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

    Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
    Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG., Free PMC Article

    05/13/2017
    SPI1-GFI1B transcriptional network is an important regulatory axis in acute myeloid leukemia as well as in the development of erythroid versus myelomonocytic cell fate

    A somatic mutation of GFI1B identified in leukemia alters cell fate via a SPI1 (PU.1) centered genetic regulatory network.
    Anguita E, Gupta R, Olariu V, Valk PJ, Peterson C, Delwel R, Enver T.

    08/6/2016
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