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Mutational Landscape of Bone Marrow CD19 and CD138 Cells in Waldenström Macroglobulinemia (WM) and IgM Monoclonal Gammopathy of Undetermined Significance (IgM MGUS)
Published 2024-12-01“…ABSTRACT Background Despite recurrent and activating mutations, including MYD88, CXCR4, ARID1A, KMT2D, and CD79B were identified, the genetic basis for Waldenström's Macroglobulinemia (WM) and the risk of progression of IgM MGUS to WM remain to be fully elucidated. …”
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22
Case report: Kabuki syndrome and persistent hypoglycemia in neonates
Published 2024-12-01“…The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). …”
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Incidental Detection of a Rare Pediatric High-Grade Fibrosarcoma in a Post-traumatic Setting: The Conundrum of Intra-Abdominal Hematoma versus Neoplasia
Published 2023-01-01“…The mass was resected, and histopathological examination and molecular analysis of tumor cells were consistent with a high-grade fibrosarcoma with KMT2D : BCOR fusion.…”
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Lipopolymers as the Basis of Non-Viral Delivery of Therapeutic siRNA Nanoparticles in a Leukemia (MOLM-13) Model
Published 2025-01-01“…The siRNAs utilized in this study were targeting the oncogenes FLT3 and KMT2A::MLLT3. Both lipopolymers gave similar-size siRNA complexes (210–220 nm) with positive <i>ζ</i>-potentials (+17 to +25 mV). …”
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25
Molecular Detection and Characterization of Pasteurella multocida Infecting Camels in Marsabit and Turkana Counties, Kenya
Published 2022-01-01“…This study was conducted to detect, characterize, and determine the genetic diversity of P. multocida infecting camels in Marsabit and Turkana Counties. The KMT1 gene was targeted as the marker gene for P. multocida and hyaD-hyaC, bcbD, dcbF, ecbJ, and fcbD as marker genes for capsular serogroups A, B, D, E, and F, respectively. …”
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Prediction model establishment of prognosis factors for acute myeloid leukemia based on the SEER database
Published 2025-01-01“…The t (9;11) (p22; q23) translocation is the most common among 11q23/KMT2A rearrangements in AML. This research aimed to develop a nomogram for precise prediction of overall survival (OS) and cancer-specific survival (CSS) in AML with the t (9;11) (p22; q23) translocation. …”
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Identification of HOXA9 methylation as an epigenetic biomarker predicting prognosis and guiding treatment choice in acute myeloid leukemia
Published 2025-02-01“…HOXA overexpression caused by genetic alterations, such as KMT2A rearrangements, NUP98- fusions and FLT3-ITD mutations, is frequently identified in AML. …”
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28
Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies
Published 2025-02-01“…In this study, we have developed classification sequence-structure-property relationships (SSPR) models for predicting the pathogenicity of amino acid substitutions (AAS) in 25 proteins associated with the most important and genetically studied PIDs and encoded genes: IL2RG, JAK3, RAG1, RAG2, ADA, DCLRE1C, CD40LG, WAS, ATM, STAT3, KMT2D, BTK, FOXP3, AIRE, FAS, ELANE, ITGB2, CYBB, G6PD, GATA2, STAT1, IFIH1, NLRP3, MEFV, and SERPING1.MethodsThe data on 4825 pathogenic and benign AASs in the selected proteins were extracted from ClinVar and gnomAD. …”
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29
An exploratory study on the differential diagnostic indicators between adult systemic EBV-positive T-cell lymphoproliferative disorders and angioimmunoblastic T-cell lymphoma with...
Published 2025-01-01“…Results 7 cases of adult EBV+ T-LPD: all cases had no more than 1 T follicular helper (THF) marker was expressed, and there were significantly more EBER+/CD3 + cells than EBER+/CD20 + cells; 5 cases had mutation detection results, in which only 1 had the characteristic KMT2D mutation, 2 had TET2 mutations, and no common mutations such as DDX3X were detected.16 cases of AITL with multiple EBV infections: all cases were found to express at least 2 TFH markers, with 87% of them expressing at least 3 TFH markers., and had significantly more EBER+/CD20 + cells than EBER+/CD3 + cells; 4 cases had mutation test results, with mutated high-frequency genes being TET2 (100%, and all of them had 2 or more TET2 mutations) and RHOA G17V (100%), DNMT3A mutation occurred in 2 cases (50%), and IDH2 R172 mutation occurred in 1 case (25%). …”
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Identification of the clinical and genetic characteristics of gliomas with gene fusions by integrated genomic and transcriptomic analysis
Published 2025-01-01“…In LGG patient group, CDK5 gene was also found to exhibit a statistically significant higher amplification frequency in the LGG group without gene fusions. In addition, KMT2D exhibited a statistically significant higher mutation frequency in the LGG group with gene fusions compared to that in the LGG group without gene fusions. …”
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MLL4 regulates postnatal palate growth and midpalatal suture development
Published 2025-01-01“…MLL4, also known as KMT2D, is a histone methyltransferase that acts as an important epigenetic regulator in various organogenesis programs. …”
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Observations of Microlensed Images with Dual-field Interferometry: On-sky Demonstration and Prospects
Published 2025-01-01“…Here, we present the first successful observation of a microlensing event with GRAVITY Wide and the resolution of microlensed images in the event OGLE-2023-BLG-0061/KMT-2023-BLG-0496. We measure the angular Einstein radius of the lens with subpercent precision, θ _E = 1.280 ± 0.009 mas. …”
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