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Showing 1 to 20 of 134 for “"point mutation"”.

  1. The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene

    Wells, Carol DawnDivision of Medical Biochemistry and Structural Biology1993

    … apoAI levels. The functional significance of the point mutation was assessed by analysing the DNA-protein binding and promoter activities of the different alleles. This data would suggest that the point mutation alters the function of the apoAI promoter as gel retention assays revealed that the G …

    cape-town Repository record

  2. Functional Studies of Penicillin-binding Protein 1 in Bacillus subtilis

    Liu, LinVirginia Tech2007

    … the colony morphologies, and each of these two mutations had minor effects on growth rate, cell diameter, PG crosslinking and generation of long cells in the cell population. The single point mutation in the active site of the N or P domain presumably removed the enzymatic activity, and each …

    vt Repository record

  3. Exploiting muscarinic acetylcholine receptors as an insecticidal target to enhance the toxicity of gamma-amino butyric acid channel blockers and the continued challenges with resistance

    Xie, NaVirginia Tech2022

    … to control resistant pests. A point mutation (A301S) in the GABA-gated chloride channel confers resistance to dieldrin (Rdl), lindane, and fipronil, which I have confirmed using different routes of exposure. However, the same synergistic effect was not achieved in the resistant …

    vt Repository record

  4. Isothermal Nucleic Acid Assays for the Detection of HIV Drug Resistance and Sickle Cell Disease in Low-Resource Settings

    Natoli, Mary ElizabethRice University2020

    … disease of global importance that results from a point mutation in the β-globin gene which causes red blood cells to sickle. This in turn leads to painful vaso-occlusion and a host of other clinical consequences. The goal of this thesis work was to develop low-cost nucleic acid tests that can …

    rice Repository record

  5. Investigating the process of fibril formation of the Iowa mutant of the Alzheimer's peptide

    Udad, Xavier S.2011

    … the specific region of the peptide, and a single point mutation affect the behavior of Alzheimer’s beta-amyloid. The beta-amyloid peptide, which is a 40 residue peptide that has been implicated as a potential cause of Alzheimer’s disease, has been shown to undergo a fibrillization process that …

    depaul Repository record

  6. The Role of Gap Junctions in Congenital Diseases of the Heart

    Britz-Cunningham, Scott Henry

    … cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart.</p> <p><strong>Methods.</strong> <em>Connexin43</em> DNA from 25 normal subjects and 30 children with a variety of congenital …

    loma-linda Repository record

  7. Defining The Cooperation Between Mhc-I and Mhc-Ii Neoantigen-Driven T Cell Responses to Develop Effective Personalized Immunotherapies

    Williams, Charmelle, <p>0000-0001-8342-587X</p>2022

    <p>Immune checkpoint therapy (ICT) (e.g. anti-CTLA-4 (α-CTLA-4), anti-PD-1 (α-PD-1)) enables durable T cell-dependent anti-tumor immunity in certain cancer patients. Since a subset of patients respond to ICT, this work aims at developing a more in-depth understanding of T-cell responses to MHC …

    uthsc Repository record

  8. The extracellular matrix of the nematode Caenorhabditis elegans : a model to study the role of cell-matrix interaction in animal development.

    Qiu, Zhongqiang, 1984-Baylor University.2020

    … RGD (Arg-Gly-Asp) motifs in their domains. The mutations in two RGD motifs showed that the removal of a motif in RGD2023 position resulted in embryonic lethality, while a point mutation, RGD to RGE, produced viable offspring with movement and cell migration defects. Then, I moved to my attention …

    baylor Repository record

  9. Modifikation der enzymatischen Mutationsdetektionsmethode (EMD) zur Identifikation von Punktmutationen im PMP22-Gen nach DNA-Isolierung aus Nerv, Muskel oder Blut

    Nellessen, Cordula MargaretePublikationsserver der RWTH Aachen University2003

    … study, DNA form 59 patients was examined for point mutations in the PMP22-Gene, which codes for a transmembrane protein in the myelin sheath. After DNA-extraction, the four coding exons of the gene were amplified by PCR. Then, the templates were analysed by the Enzymatic Mutation Detection …

    aachen Repository record

  10. Essential Fatty Acid Biosynthetic Enzymes of Escherichia Coli and Lactococcus Lactis Subsp. Lactis

    Lai, Chiou-YanUniversity of Illinois at Urbana-Champaign2015

    … (fabGts) mutants. The E. coli mutant has two point mutations: A154T and E233K. In Salmonella enterica Serovar Typhimurium fabGts mutants one strain had a point mutation, S224F whereas the second strain contained two mutations (M125I and A223T). All of the altered residues of the FabG mutant …

    uiuc Repository record

  11. Creation and characterization of mice with a mutation disrupting binding of a transcriptional repressor of insulin-like growth factor 2

    Kroscher, Kellie AnnUniversity of Illinois at Urbana-Champaign2017

    … their wild type counterparts. Pigs with this mutation have a 10 % increase in muscle mass and a 15% decrease in subcutaneous fat deposition despite similar body weights. Though IGF2 is a highly conserved gene across species, similar mutations in IGF2 have not been detected. Therefore, the …

    uiuc Repository record

  12. Identifizierung und Charakterisierung des krankheitsauslösenden Gens in einem Mausmodell für humane Motoneuronerkrankungen

    Drepper, CarstenUniversität Bielefeld

    … goal of this work was to identify the causative mutation in a mouse model for human spinal muscular atrophy and amyotrophic lateral sclerosis. The mouse model examined in this work was first described in 1956 as the recessive Wobbler mutation (gene symbol: wr) and was mapped to mouse chromosome …

    bielefeld Repository record

  13. Molekulargenetische Untersuchungen zur Rolle des humanen LHX3-Gens bei der menschlichen Hypophysenentwicklung

    Waldmann, JensPublikationsserver der RWTH Aachen University2006

    … a polymorphism in exon 2 and 3/80 displayed a point mutation in the untranslated region of exon 3.Germline mutations within the lhx3 gene seems to be a rare event in patients with combined pititary deficiency.

    aachen Repository record

  14. Genetic study of hematopoiesis development by two zebrafish mutants: Ugly duckling and tc-244

    DU LINSEN2008

    … that the tc-244 mutant phenotype was caused by a point mutation in another novel zebrafish gene. Thus, tc-244 is identified as an important regulator for definitive hematopoiesis.

    nus Repository record

  15. The Function and Regulation of Photobodies in Phytochrome Signaling

    Van Buskirk, Elise2014

    … light and behaves like a weak allele. However, a point mutation within the HKRD renders the entire molecule completely inactive. To resolve this discrepancy, I explored the hypothesis that this point mutation might impair the dimerization of the HKRD; dimerization has been shown to occur via the …

    duke Repository record

  16. Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations

    Rumaney, MaryamDivision of Human Genetics2015

    … (SCA) is genetically characterised by a single point mutation, patients can manifest varying degrees of clinical severity due to various genetic modulators that affect the phenotype of this disease. The co-inheritance of alpha-thalassemia (α-thalassemia) has been associated with a milder …

    cape-town Repository record

  17. Role of Protein Kinase C Zeta (PKCζ) in Regulation of Epithelial Tight Junctions

    Jain, Suneet Kumar2016

    … occludin on Ser and Thr residues. Site directed point mutation demonstrated that PKCζ predominantly phosphorylated T438, but also phosphorylated T403 and T404. This study demonstrates that PKCζ phosphorylated occludin on Ser/Thr residues and regulated the assembly of tight junctions.</p>

    tenn-hsc Repository record

  18. Defining the functions of a conserved hydrophobic domain in the ARF tumor suppressor

    Hariz, Aymen2018

    … or in a p53-independent manner. Introducing a point mutation (L46D) into the conserved hydrophobic domain (37-51) in p19Arf annulled ARF/CtBP2 interaction and mediated cell survival by rendering cells irresponsive to apoptosis. In vivo analysis on the percentage of lymphoma free survivals in …

    vcu Repository record

  19. Relevanz der Transmembran- und Intrazellulärregion von gp130, LIFR und OSMR für deren Liganden-induzierte Signaltransduktion

    Hermanns, Heike MargaretePublikationsserver der RWTH Aachen University2000

    … 861 specifically the adapter protein Shc. Point mutation of this tyrosine residue to phenylalanine resulted in a reduced activation of the MAP kinases Erk1/2 as well as in a reduced induction of an a2-macroglobulin-promoter driven reporter gene. The box1/2 region of gp130 does - in contrast …

    aachen Repository record

  20. Role signální dráhy HOG MAPK při osmotickém stresu u Saccharomyces cerevisiae

    Vrbová, MichaelaUniverzita Karlova, Přírodovědecká fakulta2007

    … deletion mutant hog1Δ and hog1-as mutant with point mutation which allows inhibition of Hog1 MAPK during presence of specific AS inhibitor. We tested AS inhibitor by plate test and have found optimal concentration of 5 μM for blocking Hog1 MAPK in hog1-as mutant. Translation profiling proves …

    charles-prague Repository record

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