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   Articles with "kmt2d" as a keyword



B-003 Assessing the role of KMT2D in muscle regeneration to understand hypotonia symptoms associated with Kabuki Syndrome

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recommendations! Published in 2025 at "Clinical Chemistry"

DOI: 10.1093/clinchem/hvaf086.403

Abstract: Kabuki syndrome (KS) is a rare multi-systemic genetic condition affecting 1 in 32,000 individuals globally. It is characterized by symptoms such as dysmorphic facial features, developmental delays, intellectual disabilities, and hypotonia. Muscle weakness as a… read more here.

Keywords: kmt2d muscle; muscle; muscle regeneration; kmt2d ... See more keywords

Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac121

Abstract: Kabuki syndrome (KS) is frequently caused by loss-of-function mutations in one allele of the H3K4 methyltransferase KMT2D and is associated with problems in neurological, immunological, and skeletal system development. We generated heterozygous KMT2D knock-out and… read more here.

Keywords: cell; stem cell; methyltransferase kmt2d; kmt2d ... See more keywords

EPCO-56. RARE COMBINATION OF PEDIATRIC POSTERIOR FOSSA EPENDYMOMA GROUP A, CONSTITUTIONAL KMT2D ALA2497VAL VARIANT AND CONGENITAL SOLITARY KIDNEY

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recommendations! Published in 2025 at "Neuro-Oncology"

DOI: 10.1093/neuonc/noaf201.0055

Abstract: Ependymoma in children is rarely associated with pathogenic germline variants. We describe co-occurrence of posterior fossa group A ependymoma, constitutional KMT2D (MLL2) variant of unknown clinical significance (VUS), and congenital solitary kidney in a child.… read more here.

Keywords: solitary kidney; congenital solitary; kmt2d; ependymoma ... See more keywords

Abstract 366: Association of MLL2/KMT2D and MLL3/KMT2C with chronic myeloid leukemia

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recommendations! Published in 2018 at "Cancer Research"

DOI: 10.1158/1538-7445.am2018-366

Abstract: Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm linked to the Philadelphia chromosome presence that generates the BCR-ABL1 fusion oncogene. Tyrosine kinase inhibitors (TKI) such as imatinib mesylate (IM) dramatically improved the treatment efficiency… read more here.

Keywords: mll2 kmt2d; kmt2d mll3; kmt2d; mll3 kmt2c ... See more keywords

Abstract A019: Epigenetic Tumor Suppressor KMT2D Shapes the Immune Landscape in Pancreatic Cancer

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recommendations! Published in 2025 at "Cancer Research"

DOI: 10.1158/1538-7445.pancreatic25-a019

Abstract: KMT2D (known as Mll4 in mice) is a histone methyltransferase and a critical epigenetic regulator frequently mutated across a range of cancers. Analysis of TCGA database indicates that alterations in the KMT2D gene – including… read more here.

Keywords: cancer; abstract a019; immune landscape; tumor ... See more keywords

Abstract A028: A living biobank of patient-derived organoids reveals a role for KMT2D in maintaining luminal identity in urothelial carcinoma

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recommendations! Published in 2024 at "Clinical Cancer Research"

DOI: 10.1158/1557-3265.bladder24-a028

Abstract: Patient-derived organoid models provide a highly amenable experimental platform to study human tumor biology. Over the past seven years, our group has generated a living biobank of 82 organoid lines established from urothelial carcinomas. These… read more here.

Keywords: living biobank; patient derived; basal; culture ... See more keywords

Histone Methyltransferase KMT2D Regulates H3K4 Methylation and is Involved in the Pathogenesis of Ovarian Cancer

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recommendations! Published in 2021 at "Cell Transplantation"

DOI: 10.1177/09636897211027521

Abstract: To investigate the function of histone-lysine N-methyltransferase 2D (KMT2D) on the methylation of H3 lysine 4 (H3K4) in the progression of Ovarian cancer (OV). KMT2D, ESR1 and H3K4me expressions in surgical resected tumors and tumor… read more here.

Keywords: kmt2d; h3k4me; methyltransferase kmt2d; ovarian cancer ... See more keywords

Lysine Methyltransferase 2D Regulates Immune Response and Metastasis in Head and Neck Cancer

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recommendations! Published in 2024 at "AntiCancer Research"

DOI: 10.21873/anticanres.17141

Abstract: Background/Aim: The most frequently altered epigenetic modifier in head and neck squamous carcinoma (HNSC) is the histone methyltransferase KMT2D. KMT2D catalyzes methylation of histone H3K4 resulting in open chromatin and the activation of target genes.… read more here.

Keywords: head neck; ccl2; hnsc; kmt2d ... See more keywords