Spelling suggestions: "subject:"hunchung neurodevelopmental syndrome""
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Generation and analysis of a Xenopus model of CK2 inhibitionHathorn, Mary-Louise 18 November 2021 (has links)
CK2α is a serine-threonine kinase that is involved in a large number of biological processes, including embryonic development, cancer, and cell proliferation. Recently, it has been found that mutations in CK2α results in a developmental condition known as Okur-Chung neurodevelopmental syndrome (OCNDS). This disorder commonly results in intellectual disability, congenital heart defects (CHDs), gross motor delay, and facial abnormalities. CK2α inhibition has so far primarily been studied in mice, through methods such as knockout, gene floxing, and CRISPR/Cas9 mutations. In this thesis, we provide a proof of principle that chemical inhibition of CK2 in Xenopus laevis embryos can induce a phenocopy similar to the heart phenotype of the CK2α knockout mouse model, and demonstrate the potential of Xenopus laevis as an animal model to study molecular mechanisms that may underlie OCNDS. Here we carefully examined whole embryos, sections stained with multiple antibodies, sections stained with hematoxylin and eosin, and assessment of proliferation and apoptosis rates. The phenotypes observed in the Xenopus laevis model were analyzed and compared to both the CK2α knockout mouse model and OCNDS patients. Results found commonalities among facial features, heart deformities, and muscle patterning between the animal models, which overlapped heavily with patient symptoms. Thus, this work has established Xenopus laevis treated with chemical inhibitors as an appropriate animal model for further characterization of the mechanisms that may underlie OCNDS. / 2023-11-18T00:00:00Z
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Generation and analysis of a Xenopus model of CK2 inhibitionHathorn, Mary-Louise 14 February 2022 (has links)
CK2α is a serine-threonine kinase that is involved in a large number of biological processes, including embryonic development, cancer, and cell proliferation. Recently, it has been found that mutations in CK2α results in a developmental condition known as Okur-Chung neurodevelopmental syndrome (OCNDS). This disorder commonly results in intellectual disability, congenital heart defects (CHDs), gross motor delay, and facial abnormalities. CK2α inhibition has so far primarily been studied in mice, through methods such as knockout, gene floxing, and CRISPR/Cas9 mutations. In this thesis, we provide a proof of principle that chemical inhibition of CK2 in Xenopus laevis embryos can induce a phenocopy similar to the heart phenotype of the CK2α knockout mouse model, and demonstrate the potential of Xenopus laevis as an animal model to study molecular mechanisms that may underlie OCNDS. Here we carefully examined whole embryos, sections stained with multiple antibodies, sections stained with hematoxylin and eosin, and assessment of proliferation and apoptosis rates. The phenotypes observed in the Xenopus laevis model were analyzed and compared to both the CK2α knockout mouse model and OCNDS patients. Results found commonalities among facial features, heart deformities, and muscle patterning between the animal models, which overlapped heavily with patient symptoms. Thus, this work has established Xenopus laevis treated with chemical inhibitors as an appropriate animal model for further characterization of the mechanisms that may underlie OCNDS. / 2023-11-18T00:00:00Z
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