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    KMT2D lysine methyltransferase 2D [ Homo sapiens (human) ]

    Gene ID: 8085, updated on 6-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma.

    Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma.
    Liu W, Cao H, Wang J, Elmusrati A, Han B, Chen W, Zhou P, Li X, Keysar S, Jimeno A, Wang CY., Free PMC Article

    09/17/2024
    PI 3-Kinase and the Histone Methyl-Transferase KMT2D Collaborate to Induce Arp2/3-Dependent Migration of Mammary Epithelial Cells.

    PI 3-Kinase and the Histone Methyl-Transferase KMT2D Collaborate to Induce Arp2/3-Dependent Migration of Mammary Epithelial Cells.
    Rysenkova KD, Gaboriaud J, Fokin AI, Toubiana R, Bense A, Mirdass C, Jin M, Ho MCN, Glading E, Vacher S, Courtois L, Bièche I, Gautreau AM., Free PMC Article

    09/6/2024
    Lysine Methyltransferase 2D Regulates Immune Response and Metastasis in Head and Neck Cancer.

    Lysine Methyltransferase 2D Regulates Immune Response and Metastasis in Head and Neck Cancer.
    Wu J, Chun C, Lagunas AM, Crowe DL.

    07/31/2024
    DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

    DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
    Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M.,

    07/25/2024
    Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

    Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
    Vaclavik V, Navarro A, Jacot-Guillarmod A, Bottani A, Sun YJ, Franco JA, Mahajan VB, Smirnov V, Bouvet-Drumare I., Free PMC Article

    05/28/2024
    [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

    [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
    Fan H, Wang Y, Wu Y, Jia L, Wang L, Shen Y.

    05/1/2024
    KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

    KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
    Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT., Free PMC Article

    01/31/2024
    Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

    Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
    Zheng Z, Ding L, Wang M, Zhang Y, Yang Y, Tang M, Xu J, Wang L, Wu J, Li H., Free PMC Article

    01/31/2024
    EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.

    EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.
    Yao B, Xing M, Meng S, Li S, Zhou J, Zhang M, Yang C, Qu S, Jin Y, Yuan H, Zen K, Ma C., Free PMC Article

    01/27/2024
    SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder.

    SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder.
    Shpargel KB, Quickstad G., Free PMC Article

    12/20/2023
    Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.

    Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.
    Golden CS, Williams S, Serrano MA., Free PMC Article

    12/1/2023
    [Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].

    [Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].
    Wu ZY, Yue HT, Li J, Yang JG, Bian Z, He M.

    10/10/2023
    Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

    Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.
    Liu R, Niu Y, Liu C, Zhang X, Zhang J, Shi M, Zou W, Gu B, Zhu H, Wang D, Yuan H, Li W, Zhao D, Zheng Q, Liu R, Chen W, Ma T, Zhang Y., Free PMC Article

    08/11/2023
    KMT2D Deficiency Promotes Myeloid Leukemias which Is Vulnerable to Ribosome Biogenesis Inhibition.

    KMT2D Deficiency Promotes Myeloid Leukemias which Is Vulnerable to Ribosome Biogenesis Inhibition.
    Xu J, Zhong A, Zhang S, Chen M, Zhang L, Hang X, Zheng J, Wu B, Deng X, Pan X, Wang Z, Qi L, Shi K, Li S, Wang Y, Wang M, Chen X, Zhang Q, Liu P, Gale RP, Chen C, Liu Y, Niu T., Free PMC Article

    07/17/2023
    MLL4 Regulates the Progression of Non-Small-Cell Lung Cancer by Regulating the PI3K/AKT/SOX2 Axis.

    MLL4 Regulates the Progression of Non-Small-Cell Lung Cancer by Regulating the PI3K/AKT/SOX2 Axis.
    Yang Y, Qiu R, Weng Q, Xu Z, Song J, Zhao S, Meng M, Zhang D, Kong C, Wang H, Xu M, Zhao Z, Ji J., Free PMC Article

    07/17/2023
    The KDM6A-KMT2D-p300 axis regulates susceptibility to diverse coronaviruses by mediating viral receptor expression.

    The KDM6A-KMT2D-p300 axis regulates susceptibility to diverse coronaviruses by mediating viral receptor expression.
    Wei J, Alfajaro MM, Cai WL, Graziano VR, Strine MS, Filler RB, Biering SB, Sarnik SA, Patel S, Menasche BL, Compton SR, Konermann S, Hsu PD, Orchard RC, Yan Q, Wilen CB., Free PMC Article

    07/12/2023
    Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.

    Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
    Jung YL, Hung C, Choi J, Lee EA, Bodamer O.

    06/23/2023
    KMT2D links TGF-beta signaling to noncanonical activin pathway and regulates pancreatic cancer cell plasticity.

    KMT2D links TGF-β signaling to noncanonical activin pathway and regulates pancreatic cancer cell plasticity.
    Lu S, Kim HS, Cao Y, Bedi K, Zhao L, Narayanan IV, Magnuson B, Gu Y, Yang J, Yi Z, Babaniamansour S, Shameon S, Xu C, Paulsen MT, Qiu P, Jeyarajan S, Ljungman M, Thomas D, Dou Y, Crawford H, di Magliano MP, Ge K, Yang B, Shi J., Free PMC Article

    06/21/2023
    Histone methyltransferase KMT2D promotes prostate cancer progression through paracrine IL-6 signaling.

    Histone methyltransferase KMT2D promotes prostate cancer progression through paracrine IL-6 signaling.
    Zhang J, Ye Y, Xu Z, Luo M, Wu C, Zhang Y, Lv S, Wei Q.

    04/4/2023
    KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells.

    KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells.
    Vlasevska S, Garcia-Ibanez L, Duval R, Holmes AB, Jahan R, Cai B, Kim A, Mo T, Basso K, Soni RK, Bhagat G, Dalla-Favera R, Pasqualucci L., Free PMC Article

    03/16/2023
    Pan-Cancer Analysis of Histone Methyltransferase KMT2D with Potential Implications for Prognosis and Immunotherapy in Human Cancer.

    Pan-Cancer Analysis of Histone Methyltransferase KMT2D with Potential Implications for Prognosis and Immunotherapy in Human Cancer.
    Chen G, Chen P, Zhou J, Luo G.

    03/9/2023
    Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.

    Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.
    Zhang L, Li YL, Zhen L, Li R, Li DZ.

    02/14/2023
    KMT2D Regulates the NCOA6/THRB Signal Axis through Epigenetic Modification to Promote the Migration and Invasion of Papillary Thyroid Cancer.

    KMT2D Regulates the NCOA6/THRB Signal Axis through Epigenetic Modification to Promote the Migration and Invasion of Papillary Thyroid Cancer.
    Wang R, He Y, Wang Y, Xie S.

    02/4/2023
    Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion.

    Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion.
    Pérez-Montiel MD, Cerrato-Izaguirre D, Sánchez-Pérez Y, Diaz-Chavez J, Cortés-González CC, Rubio JA, Jiménez-Ríos MA, Herrera LA, Scavuzzo A, Meneses-García A, Hernández-Martínez R, Vaca-Paniagua F, Ramírez A, Orozco A, Cantú-de-León D, Prada D., Free PMC Article

    01/28/2023
    KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition.

    KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition.
    Pan Y, Han H, Hu H, Wang H, Song Y, Hao Y, Tong X, Patel AS, Misirlioglu S, Tang S, Huang HY, Geng K, Chen T, Karatza A, Sherman F, Labbe KE, Yang F, Chafitz A, Peng C, Guo C, Moreira AL, Velcheti V, Lau SCM, Sui P, Chen H, Diehl JA, Rustgi AK, Bass AJ, Poirier JT, Zhang X, Ji H, Zhang H, Wong KK., Free PMC Article

    01/21/2023
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