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 20 of 21 for “"bone marrow failure"”.
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Loss of rad51 in zebrafish (Danio rerio): a novel Fanconi anaemia model
… by various congenital abnormalities, progressive bone marrow failure and cancer predisposition. The cellular and molecular pathology of FA is poorly understood, resulting in a severe lack of effective treatment options. In this thesis, I describe the first viable vertebrate model of RAD51 loss. …
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Aspects of bleeding complications and hemostasis at central line insertion and mild induced hypothermia
… but are more frequent in patients with bone marrow failure and severe thrombocytopenia. Although supportive evidence is scarce, prophylactic platelet transfusion is sometimes performed in these patients before catheter insertion. Furthermore, the ideal threshold platelet count and timing …
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Donor lymphocyte infusion after allogeneic stem cell transplantation in children
… or persistence of hematologic malignancy and bone marrow failure syndrome following allogeneic hematopoietic stem cell transplantation (allo HSCT). However, DLI is limited by the development of graft-versus-host disease (GVHD)and marrow aplasia, and the efficacy of DLIis not defined in …
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Molecular Characterization of Novel Mutations in Fanconi Anemia Patients
… (FA) is a rare disorder that is characterized by bone marrow failure in the first decade of life, developmental abnormalities, and predisposition to malignancies. The majority of patients have mutations in one of the 22 known FA genes, while a small number of patients have not been assigned to a …
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Understanding of Intrinsic Sources of DNA Damage that Drive Human Disease: A Foray into the Study of DNA Interstrand Crosslinks and Genome-Embedded Ribonucleotides
… genome-embedded ribonucleotides are diverse. A failure to remove ICLs in humans is the cause of Fanconi anemia (FA), a disease characterized by early bone marrow failure, congenital abnormalities, and an early onset of cancers such as leukemia and head and neck squamous cell carcinomas (HNSCC). …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… However, while it is critical for protecting the bone marrow, the FA pathway is ineffective in the less-proliferative tissues of the kidney and liver. FAN1 interacts with FA pathway proteins and has been shown to process ICLs in biochemical studies. Depletion of FAN1 sensitizes cells to …
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Targeting integrin alpha 5 and focal adhesion kinase to overcome azacitidine resistance in higher risk myelodysplastic syndromes
Myelodysplastic syndromes are typified by bone marrow failure due to profoundly impaired haematopoietic differentiation with higher risk disease commonly progressing to acute myeloid leukaemia. Azacitidine (AZA) and decitabine are the only available therapies for higher risk myelodysplastic …
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Separate Roles of FAN1 and Fanconi Anemia Proteins in DNA Interstrand Crosslink Repair and Human Disease
… been associated with congenital abnormalities, bone marrow and kidney failure, liver dysfunction, and cancer. DNA nucleases play a significant role during the repair of ICLs and they function at multiple repair steps. Here, we assessed the contributions of FANCD2/FANCI-Associated Nuclease 1 …
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The pre-clinical evolution of haematological malignancies
… usually presents abruptly with complications of bone marrow failure. Using deep targeted sequencing of stored blood DNA samples from individuals who went on to develop AML and controls, we identified features of CH that predict leukaemic progression. The number, type and burden of genetic …
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PRE-CLINICAL MODELING OF CELL AND GENE THERAPY OF FANCONI ANEMIA
… (FA) is a rare genetic disorder manifested as bone marrow failure, physical anomalies, and increased cancer risk. While it has long been recognized that FA patients exhibit compromised hematopoiesis and have reduced frequencies of immunophenotype-defined hematopoietic stem and progenitor cells …
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Modeling Diamond-Blackfan Anemia in the Mouse: Disease Pathogenesis and Evaluation of Novel Therapies
… of erythroid precursors in a normocellular bone marrow. In addition to the hematopoietic symptoms, DBA is characterized by the presence of physical abnormalities and cancer predisposition. Mutations in genes encoding ribosomal proteins have been identified in approximately 60-70% of DBA …
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Fancm and Faap24 Maintain Genomic Stability Through Cooperative and Unique Functions
… multiple congenital abnormalities, progressive bone marrow failure and profound cancer susceptibility. A hallmark of cells derived from FA patients is hypersensitivity to DNA interstrand crosslinking agents such as mitomycin C (MMC) and cisplatin, suggesting that FA- and FA-associated proteins …
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Detection of Aneuploidy for Chromosomes 7 and 8 Using Fluorescence <i>In Situ</i> Hybridization in Patients with Aplastic Anemia and Sequencing of the Mitotic Checkpoint Gene hBUB1
… anemia (AA) is characterized by complete bone marrow failure. Progression to myelodysplastic syndromes (MDS) and acute nonlymphocytic leukemia (ANLL) occurs frequently. At the time of transformation, cytogenetic abnormalities are common. Detection of cytogenetic abnormalities prior to …
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Defining the role of endonuclease VIII-like 1 and 3 in the repair of interstrand crosslinks in cancer cells
… disorder that can lead to abnormal development, bone-marrow failure, and an increased vulnerability to carcinogenesis. Cells derived from FA patients are unusually sensitive to DNA crosslinking agents and it is now known that FA cells lack one of twenty-two known different FA complementation …
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Computational studies of biomolecules to explore potential therapeutics for COVID-19 and SAMD9- associated diseases
… for several diseases like MIRAGE syndrome, bone marrow failure, and immunodeficiency. Molecular modeling, docking, and dynamics simulation studies were carried out for the SAMD9 effector domain to study its interaction with double-stranded nucleic acid and salvianolic acid B for possible …
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INTEGRATED TRANSCRIPTOMIC AND TRANSLATIONAL PROFILING OF EIF6-SBDS IN SHWACHMAN-DIAMOND SYNDROM REVEALS DIFFERENT CELLULAR STATES SHAPED BY RIBOSOME COMPOSITION AND FIDELITY
… pancreatic dysfunction, growth impairment, bone-marrow failure, and a markedly increased risk of myelodysplastic syndrome and acute myeloid leukaemia. SBDS is required for release of the anti-association factor eIF6 from nascent 60S subunits, a prerequisite for productive 80S assembly and …
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Targeting the hematopoietic stem cell to correct osteopetrosis
… of non-functional osteoclasts and the absence of bone resorption results in accumulation of sclerotic bone leading to abnormal bone marrow cavity formation insufficient to support hematopoiesis. The most common mutation is in the TCIRG1 gene seen in over 50% of the patients. The children suffer …
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Structural and Biochemical Investigation of Fanconi Anemia Pathway Activation
… (FA), manifested by developmental impairment, bone marrow failure, and predisposition to various types of cancers. In healthy cells, a specialized cascade of DNA repair proteins comes together to establish the FA pathway that specifically recognizes and repairs DNA ICLs. Ubiquitination of the …
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A microfluidic biosensor to electrically enumerate blood cells at point-of-care for infectious disease diagnosis and management
… Inflammation, leukemia, tissue injury, bone marrow failure and immunodeficiency can be identified by the irregular WBC counts and their differentials. Thus, a microfluidic, disposable, economical CBC would help in monitoring all these diseases with more efficiency and care. Cell counting …
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Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis
… with chromosomal instability, progressive bone marrow failure, typical birth defects and predisposition to neoplasia. The clinical phenotype is similar in all known complementation groups (FA-A, FA-B, FA-C,FA-D1, FA-D2, FA-E, FA-F and FA-G). The cellular phenotype is characterized by …
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