Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Kmt2d"”.
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Genetic analysis of Kmt2d loss in tumorigenesis using genetically engineered mouse models
… regulators in COMPASS and SWI/SNF complexes. <em>KMT2D</em>, a histone H3K4 methyltransferase in the COMPASS complex, is frequently mutated in human lymphoma, melanoma, and epithelial carcinoma. Biochemically, KMT2D shapes the cellular enhancer landscape as the major writer of the putative …
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Fbxw7 Triggers Degradation Of Kmt2d To Favor Growth Of Mature B-Type Malignant Cells
… is an E3 ligase for the lysine methyltransferase KMT2D. We show that FBXW7 utilizes its conserved WD40 domain to interact with KMT2D. KMT2D contains a stretch of N-terminal phosphodegron repeats that mediate interaction with FBXW7. These phosphodegrons are phosphorylated in cells and …
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An Investigation of Epigenetic Mechanisms Driving The Biology of Head and Neck Squamous Cell Carcinoma
… In the third project, I investigate the role of KMT2D, a histone methyltransferase that is the most highly mutated epigenetic gene in HNSCC, in regulating tumorigenesis and the tumor microenvironment. KMT2D is demonstrated to function as a tumor suppressor, the loss of which is associated with …
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Role of chromatin condensates in tuning nuclear mechano-sensing in Kabuki Syndrome
… disease caused by the haploinsufficiency in the KMT2D gene encoding for MLL4, a H3K4-specific methyltransferase important for the regulation of gene expression. By interrogating the effect of KMT2D haploinsufficiency in Mesenchymal Stem Cells (MSCs) we discovered that MLL4 loss of function (LoF) …
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The role of MLL4 in the chromatin framework: from the epigenome to 3D genome organization
… that mutations in the gene coding for MLL4 (KMT2D) are responsible for a rare multi-systemic disorder named Kabuki syndrome, which currently has inadequate therapeutic options. In this thesis, we present an integrated study of the epigenetic and topological changes in the chromatin state …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
… variants (<em>ACVR1</em>, <em>JARID2</em>, <em>KMT2D</em>, <em>NF1</em>, <em>NR2F2</em>, <em>PLRG1, SMURF1, TBX20</em>,<em> </em>and<em> ZEB2</em>).</p> <p>The analytical strategy presented here highlights the role of biologically-informed annotation on large-scale human genetic studies. The …
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Metilación de histonas y fisura labio-palatina: asociación e interacción de variantes genéticas
… de histonas (EZH2, KDM1A, KDM6A, KDM6B, KMT2D, MECOM, PHF8, PRDM16, PRMT1, SETDB1, WHSC1) y el riesgo de FL/PNS en población chilena. La hipótesis planteó que variantes de estos genes representan elementos de riesgo para la aparición de fisuras labio/palatinas no sindrómicas. La …
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Developing and Using Methyl-Specific Antibodies to Study The Biological Roles of Arginine Methylation
… 12 (MED12) and the lysine methyltransferase KMT2D/MLL2. Both of these proteins are implicated in enhancer function. We identified the primary CARM1-mediated MED12 methylation site as arginine 1899. Using methyl-specific antibodies to this site, we found that MED12 methylation positively …
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Analysis of driver gene mutations in oesophageal squamous cell carcinoma
… these, TP53, CDKN2A.p16INK4a, CDKN2A.p14ARF, and KMT2D were identified as OSCC driver genes. Based on the mutation spectrum analysis, samples clustered into two distinct groups, cluster 1 and cluster 2b, characterized by TP53 alterations and mutation rates per megabase (Mb). WES expanded findings …
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Molecular Insights of Primary Thyroid B-cell Lymphomas by Somatic Genetic and Immunogenetic Profiling
… positive FLs were enriched for *CREBBP*, *KMT2D*, *EZH2*, but lacked *TET2*, *CD274* and *IGLL5* mutations, while *BCL2* translocation negative FL including those with *BCL6* translocations displayed few differences from EMZL and DLBCL. There were also few differences in the mutation …