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Showing 1 to 20 of 148 for “"Knock-in"”.

  1. Characterization Of The Skeletal Phenotype In Idua-W392X Knock-In Mice: Bone Metabolism Biomarkers

    Owensby, Christina J.

    … catalyzes the degradation of the two glycosaminoglycans (GAGs); heparin sulfate (HS) and demantan sulfate (DS). The accumulation of HS and DS makes MPS I progressive with inevitable degeneration of multiple organ systems. Accumulated excess of GAGs on the skeletal system causes dysostosis …

    mo-state Repository record

  2. Characterization of a Novel NPC1I1061T Knock-in Mouse Model of Niemann-Pick Type C1 Disease

    Praggastis, Maria A.2014

    … storage disease that is caused by mutations in either the <italic>npc1</italic> or <italic>npc2</italic> genes. Loss of function of either gene results in toxic storage of free cholesterol in the lysosomes due to a cholesterol trafficking defect. In humans the free cholesterol accumulation …

    wustl Repository record

  3. Generation of a CRISPR-Cas9 mediated knock-in reporter for the GRIA3 candidate gene for schizophrenia

    Breen, LisaUniversity College Cork2022

    … of Schizophrenia (SZ) and implicates genes in this pathway as potential candidates for the condition. A study on α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor genes found strong evidence of association between the Glutamate Ionotropic Receptor AMPA Type Subunit 3 …

    cork Repository record

  4. Exploring central and enteric nervous system vulnerability in Huntington’s Disease: hints from a knock-in animal model

    Bergonzoni, GuendalinaUniversità degli studi di Trento2025

    Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an aberrant expansion of CAG repeats within the HTT gene, for which there is currently no cure. The disease is driven by the mutant huntingtin protein, which predominantly leads to the degeneration of the striatum …

    trento Repository record

  5. Untersuchungen zur Expression und pharmakologischen Modulation des metabotropen Glutamatrezeptors 5 in Dystoniemodellen: dtsz Hamstermutante und DYT1 knock-in Maus

    Perl, StefanieUniversität Leipzig

    Dystonien sind neurologisch bedingte Bewegungsstörungen, bei denen es zu unwillkürlichen Muskelkontraktionen kommt, die zu abnormen Körperhaltungen und Bewegungsabläufen führen. Auf Grund unzureichender Kenntnisse zur Pathophysiologie sind die therapeutischen Möglichkeiten stark limitiert, was die …

    qucosa-diss

  6. A study of the physics and chemistry of knock in modern SI engines and their relationship to the octane tests

    Mittal, VikramMassachusetts Institute of Technology2009

    Avoiding knock is the major design constraint for spark ignition engines because of the unacceptable noise and engine damage associated with it. Hence, the Research and Motor Octane Number (RON and MON) tests were established in 1928 such that a fuel with a higher RON and MON is less likely to …

    mit Repository record

  7. Application of gene editing methods in the biopharmaceutical field: CRISPR/Cas system assessment for large Knock-Out and large Knock-In

    Bertero, Alessandro, Ammoni, AlessandraUniversità degli Studi di Torino2024

    unito Repository record

  8. FN-EDA domain knock-in and knock-out mice, as a model for the study of the hepatic fibronectin (FN) functions

    Moretti, Federico AndreaThe Open University2007

    Fibronectin (FN) is a multidomain glycoprotein found in plasma and tissue extracellular matrices (ECM). Plasma FN (pFN) is produced and secreted into the bloodstream by the liver. Liver ECM-FN and pFN are characte,rized by the absence of the EDA domain, one of the three FN exons undergoing …

    the-open-u Repository record

  9. Generation and Characterization of a Knock-In Allele of EKLF: Probing the in vivo Role of the Chromatin Remodeling Domain in Definitive Hematopoietic Cells

    Jansen, Valerie Malyvanh2016

    <p>The zinc finger-encoding transacting factor EKLF, or erythroid Krüppel-like factor, binds key regulatory elements of many erythroid-specific genes, and is essential for definitive erythropoiesis. Mice lacking this factor die of anemia by E15.5 of gestation, failing to activate β-globin gene …

    tenn-hsc Repository record

  10. Immortalisierung embryonaler Fibroblasten aus Wildtyp und Hupki (Human p53 knock-in) Mäusen durch Veränderungen des p19Arf/p53 Kontrollweges und Erst-Charakterisierung des neuen Prolin 72-kodierenden Hupki-Mausstamms

    Belharazem, DjedaUniversität Heidelberg

    … besitzen im Unterschied zu normalen Zellen kein begrenztes Teilungsvermögen, welches abhängig von der Anzahl der Zellteilungen und der Länge der Telomere (Harley et al., 1990) ist. Genauso unterscheiden sich Zelllinien von primären embryonalen (normalen) Zellen. Diese teilen sich bereits nach …

    heid-diss Repository record

  11. Analyse Neurone-generierender Zellteilungen im Neuroepithel der Maus

    Haubensak, Wulf EckhardUniversität Heidelberg

    In Vertebraten wird Dauer der Proliferationsphase neuronaler Vorläuferzellen im Neuroepithel (Neuroepithelzellen) und damit die Neuronenzahl des Gehirns vermutlich durch den Übergang von im cell fate symmetrischen, proliferativen (Generierung zweier Neuroepithelzellen) zu asymmetrischen …

    heid-diss Repository record

  12. The direct injection of CRISPR/Cas9 system into porcine zygotes for genetically modified pig production

    Ryu, JunghyunVirginia Tech2019

    The pig has similar features to the human in aspects such as physiology, immunology, and organ size. Because of these similarities, genetically modified pigs have been generated for xenotransplantation. Also, when using the pig as a model for human diseases (e.g. cystic fibrosis transmembrane …

    vt Repository record

  13. Analyse der Funktion von A-Ephrinen in der Entwicklung des Nervensystems an einem neu etablierten transgenen Mausmodell

    Lindemann, LotharLudwig-Maximilians-Universität

    Die Eph-Familie von Rezeptortyrosinkinasen und ihre Liganden, die Ephrine, sind die größte Gruppe von axonalen Zielführungsmolekülen. Die membrangebundenen Ephrine und ihre Rezeptoren sind jedoch nicht ausschließlich für die Etablierung neuronaler Konnektivität, sondern auch für …

    lmu-germany Repository record

  14. Gene-Targeting zur Herstellung einer IgE überexprimierenden Maus

    Stöberl, ChristianLudwig-Maximilians-Universität

    Die hier vorliegende Arbeit stellt ein neues Mausmodell vor, mit dem der Einfluß von IgE in der Entstehung einer Allergie und die Folgen vermehrter IgE-Produktion in-vivo untersucht werden können. Erreicht wurde dies durch eine definierte Mutation im Erbgut von Mäusen. Mittels homologer …

    lmu-germany Repository record

  15. Identifikation und Charakterisierung von im Thymus exprimierten Chemokinrezeptoren

    Benz, Claudia

    Zielsetzung der Arbeit war es neue Chemokinrezeptoren mittels degenerierter PCR und bioinformatischer Analysen zu identifizieren. Expressionsanalyse der Chemokinrezeptoren CCR9 und CCR11 in unterschiedlichen Geweben der Maus wurden durchgeführt. Durch die genetische Inaktivierung des …

    freiburg-diss Repository record

  16. Die Expression von E-Cadherin in der Embryonalentwicklung der Maus : Analyse von cis-aktiven regulatorischen Elementen

    Stemmler, Marc

    Korrekte Regulation der Transkription des E-Cadheringens zur Etablierung von homophiler Zell-Adhäsion ist notwendig für einwandfreie frühe Embryonalentwicklung und Organogenese. Trotz der Bedeutung von E-Cadherin bei der Embryogenese, im intakten Organismus, sowie der veränderten Expression bei der …

    freiburg-diss Repository record

  17. A multi-zone model of the CFR engine : investigating cascading autoignition and octane rating

    Perumal, MarlanDepartment of Mechanical Engineering2011

    The CFR engine is the standardised research engine used for the measurement of knock resistance of fuels through the Research Octane Number (RON) and Motor Octane Number(MON) tests. In standard production engines, knock manifests as an almost instantaneous pressure rise followed by knock ringing" …

    cape-town Repository record

  18. Abnormal combustion - methanol versus gasoline

    Yates, Andrew David BennettDepartment of Mechanical Engineering1988

    The maximum efficiency of conventional gasoline engines is largely determined by the compression ratio, and this is limited by the onset of kno8k. The maximum cylinder size is similarly constrained. The relatively higher knock resistance of methanol opens up possibilities for increased efficiency …

    cape-town Repository record

  19. Transcriptional Regulation by DAX-1 in Pluripotent and Differentiated Cells

    Maramba, Alexandra C2015

    … an orphan nuclear hormone receptor, acts mainly as a repressor through transcriptional protein complexes. Its unique structure and specific expression raises questions as to what its precise interactions are and how it mediates its repressive function. While it is known to play a role in …

    usfca Repository record

  20. Development of embryonic stem cells expressing endogenous levels of a fluorescent protein fused to the telomere binding protein TRF1

    Miller, Shelley BonnieUniversity of British Columbia2008

    … the repetitive DNA sequence and associated proteins found at the ends of linear chromosomes. They have a role in biological processes including meiosis and aging as well as implications in a number of genomic instability disorders and cancers. Telomeres maintain genomic stability by protecting …

    ubc Repository record

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