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Showing 1 to 20 of 213 for “"gain of function"”.
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Gain-of-Function Mouse Models to Investigate Biological Roles of Prmt6
<p><strong>Gain-of-function Mouse Models to Investigate Biological Roles of PRMT6</strong></p> <p>Alessandra Di Lorenzo, Ph.D. Candidate</p> <p>Mentor: Dr. Mark T. Bedford</p> <p>Protein Arginine Methyltransferase 6 (PRMT6) is the histone tail writer that methylates the H3R2 (arginine 2 of histone …
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A Gain-of-Function Role of Apolipoprotein E2 in Melanoma Progression
<p>Genetic polymorphism of the secreted lipid transporter apolipoprotein E (APOE) plays important roles in the development of atherosclerosis and Alzheimer's disease. More recently, three common APOE alleles have been implicated as modulators of melanoma progression and survival. Melanoma patients …
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Functional Characterization of the Mammalian TRPV4 Channel: Yeast Screen Reveals Gain-of-Function Mutations
… receptor potential (TRP) channels are a class of six-transmembrane (6-TM) cation-permeable channels that mediate flux of calcium and sodium into cells, leading to depolarization as well as activation of calcium-mediated second-messenger signaling pathways. The TRP channel family is large and …
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Gain-of-function and dominant-negative effects of distinct p53 mutations in lung tumours
Lung cancer is the most common cause of cancer-related mortality worldwide with current treatments providing limited therapeutic benefit in most cases. TP53 (Trp53, p53) mutations occur in approximately 50% of lung adenocarcinoma cases and are associated with poor prognosis and so novel therapies …
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Study of the Gain-of-Function Mutant p53 and PARP1 in Triple-Negative Breast Cancer
<p>Cancer cells often lose expression of the p53 protein or express mutant forms of p53. Some of these mutant p53 proteins, called gain-of-function mutant p53, have gained oncogenic functions. Previously, our group observed mutant p53 R273H interacts with replicating DNA and upregulates the …
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Gain-of-Function Effects of Mutant p53 Explored Using a Three-Dimensional Culture Model of Breast Cancer
… carcinogenesis. Breast tumors with mutated p53 often contain abundant levels of this mutant protein, which has been postulated to actively contribute to tumorigenesis by acquiring pro-oncogenic ("gain-of-function") properties. To elucidate how mutant p53 might contribute to mammary …
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Discovery of the First Endogenous Gain of Function Mutation in Drosophila RAS1 as a Dominant Suppressor of Apoptosis
<p>The development of multicellular organisms requires a tight coordination of cell proliferation, cell differentiation and cell death in order to correctly specify cell fate and number. According to the trophic theory of survival, this is achieved in part by a competition between cells in a tissue …
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The Effects of Gain of Function Mutant p53 and p63 on EPS8 and CXCL5 Expression in Head and Neck Squamous Cell Carcinoma
… and neck squamous cell carcinoma (HNSCC) is one of the ten most common cancers worldwide, with a survival rate of less than 50%. A class of mutant p53, known as gain of function (GOF) mutant p53, has been found to be expressed in tumors in these patients. GOF mutant p53 not only loses the wild …
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Mutational and Structural Investigation of SARM1, a Protein that Mediates Axon Loss
… including polyneuropathies. The ARM domain of SARM1 plays a crucial role in regulating its NADase activity. By attenuating this activity, axon degeneration is delayed, making SARM1 an important target for drug development. This thesis characterises activation at the ARM domain allosteric …
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Voltage gated calcium channels – molecular targets for trigeminal neuralgia
… voltage-gated calcium channels, a class of ion channel that are important players in pain pathways. Among them, mutations in the genes CACANA1A, CACNA1G, and CACNA1H, that encode CaV2.1, CaV3.1 and CaV3.2 channels, respectively, were investigated. First, we characterised the biophysical …
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P53 mediated cell motility in H1299 lung cancer cells
<p>Studies have shown that gain-of- function mutant p53, AKT, and NFκB promote invasion and metastasis in tumor cells. Signals transduced by AKT and p53 are integrated via negative feedback between the two pathways. Tumor derived p53 was also indicated to induce NFκB gene expression. Due to the …
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Functional analysis of KLF2 and its lymphoma-derived mutants
… essential for the development and maintenance of marginal zone B cells. Of these, KLF2 mutations are the most frequent (20-42%) and are thought to lead to the inactivation of KLF2. KLF2 is a zinc finger transcription factor involved in a variety of cellular processes, including negative …
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The PI5P 4-kinase ortholog PPK-2 of Caenorhabditis elegans acts in synaptic transmission and neuronal membrane trafficking
… Charakterisierung von zwei Mutantenstämmen mit gain-of-function-Allelen von ppk-2 eine gesteigerte Ausschüttung von Acetylcholin sowie von Neuropeptiden. Das Protein PPK-2 zeigte in C. elegans-Neuronen eine endosomale sowie Golgi-assoziierte Lokalisierung. Bei Co-Expression der PM-assoziierten …
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Transcriptional Regulation of Azole Antifungal Resistance in Candida albicans
… mucosa, gastrointestinal, and urogenital tracts of humans. Oropharyngeal candidiasis (OPC), an opportunistic mucosal infection caused by C. albicans, occurs most frequently in patients infected with human immunodeficiency virus (HIV). OPC is usually treated with azole antifungals, a class of …
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The role of pou2/spiel-ohne-grenzen (spg) in brain and endoderm development of the zebrafish, Danio rerio
The central theme of development, how cells are organized into functional structures and assembled into whole organisms, is addressed by developmental biology. One important feature of embryonic development is pattern formation, which is the generation of a particular arrangement of cells in …
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Zebrafish Models of KATP Channelopathies
… to understand the composition, structure, and function of ATP-sensitive potassium (KATP) channels in mammalian tissues, as well as the molecular basis of the channelopathies that result from loss-of-function or gain-of-function mutations in these channels. These studies have also highlighted …
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The germline- and tissue-specific effects of endogenous point-mutant p53
… missense mutations that result in accumulation of mutant p53 protein. These mutations may confer dominant-negative or gain-of- function properties to p53. To ascertain the physiological effects of tumor-associated point- mutations in p53, the structural mutant p53R172H and the contact mutant …
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Unique Transcriptional Profiles Underlie Osteosarcomagenesis Driven By Different P53 Mutants
<p>Missense mutations in the DNA binding domain of the <em>Trp53</em> gene are characterized as structural (<em>p53R172H</em>) or contact (<em>p53R245W</em>) mutations based on their effect on the conformation of the protein. These mutations show gain-of-function activities such as increased …
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