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Showing 1 to 20 of 23 for “"Fanconi Anemia"”.
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Modulated Functions of The Fanconi Anemia Core Complex
<p>Cells derived from Fanconi anemia (FA) patients are characterized by hypersensitivity to DNA interstrand crosslinks (ICLs), suggesting that FA genes play a role in ICL repair. Fanconi anemia core complex (including A, B, C, E, F, G, L, FAAP20, and FAAP100) activates the Fanconi pathway by …
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Molecular Characterization of Novel Mutations in Fanconi Anemia Patients
<p>Fanconi anemia (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 …
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Structural and Biochemical Investigation of Fanconi Anemia Pathway Activation
… repair them results in a severe genetic disease, Fanconi Anemia (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 …
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Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis
Fanconi anemia (FA) is a genetically and phenotypically heterogenous autoso- mal recessive disease associated with chromosomal instability, progressive bone marrow failure, typical birth defects and predisposition to neoplasia. The clinical phenotype is similar in all known complementation groups …
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PRE-CLINICAL MODELING OF CELL AND GENE THERAPY OF FANCONI ANEMIA
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 …
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Separate Roles of FAN1 and Fanconi Anemia Proteins in DNA Interstrand Crosslink Repair and Human Disease
… partner of FANCI/FANCD2 (ID2) complex of the Fanconi anemia pathway. Using cells isolated from human KIN patients and Fan1-deficient mice, we showed that ICL repair function of FAN1 is non-overlapping with Fanconi anemia proteins, yet redundant with SNM1A, an exonuclease that was previously …
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The Fanconi anemia pathway and HELQ work alongside dormant replication origins to suppress replication-associated genome instability
… cells also displayed intrinsic activation of the Fanconi anemia (FA) pathway, suggesting that it too plays a functional role in fork progression. Indeed, disruption of FA pathway activation in the <italic>Mcm4<super>chaos3/chaos3</super></italic> background led to an even higher number of …
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Investigating the Role of Reactive Aldehydes in the Development of Head and Neck Squamous Cell Carcinoma in Fanconi Anemia
Fanconi anemia (FA) is a rare genetic disorder. Patients with FA are cancer-prone and commonly develop acute myeloid leukemia and several solid tumors, including head and neck squamous cell carcinoma (HNSCC). Typically, the FA DNA repair pathway, which is responsible for the repair of DNA …
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Development of The Ark Assay For Quantitating Dna- Protein Crosslink Accumulation and Fanconi Anemia Pathway Involvement In The Repair Process
… DPC accumulation. Functionally, we observe that Fanconi anemia pathway-inactivated cells incur increased DPC accumulation and delayed repair, suggesting a role for the Fanconi anemia pathway in the processing of these deleterious lesions.</p>
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Chimerizmo analizė atskirose ląstelių populiacijose po alogeninės kraujodaros kamieninių ląstelių transplantacijos vaikams /
… from: acute lymphoblastic leukemia (ALL), Fanconi anemia (FA) and adrenoleukodystrophy (ALD) were included into the study. Thereafter the doctoral thesis was accomplished at the Vilnius University where evaluation of the own experience of chimerism analysis in pediatric patients was …
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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
… 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). On the other hand, failure to appropriately …
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Investigating the role of protein ubiquitylation in the maintenance of genome stability
… associated with the genome instability syndrome Fanconi anemia (FA) and, consistent with this, RFWD3 mutations were recently identified in a new FA subtype. I demonstrate that the FA-associated I639K mutation, located in the WD40 repeats of RFWD3, abolishes interaction with its substrate RPA and …
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Novel Microsatellite Detection, Microsatellite Based Biomarker Discovery In Lung Cancer And The Exome-Wide Effects Of A Dysfunctional DNA Repair Mechanism
… data for an autosomal recessive disorder, Fanconi anemia (FA). This first of its kind study quantified the heterogeneity of FA cells and demonstrated the possibility of utilizing the DNA crosslink repair dysfunctional FA cells as a suitable system to further study the causes of MST …
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Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
… was firstly to investigate the role of the two Fanconi Anemia (FA) genes <i>PALB2</i> and <i>SLX4</i> as breast cancer predisposing loci. In the <i>PALB2</i> screening, I observed a frequency of deleterious mutation of 2.1 % in familial cases recruited in cancer centers in Milan. Interestingly, …
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Fancm and Faap24 Maintain Genomic Stability Through Cooperative and Unique Functions
<p>Fanconi anemia (FA) is a rare recessive genetic disease with an array of clinical manifestations including multiple congenital abnormalities, progressive bone marrow failure and profound cancer susceptibility. A hallmark of cells derived from FA patients is hypersensitivity to DNA interstrand …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… hematopoietic system. The replication-dependent Fanconi anemia (FA) pathway defends against ICL toxicity in rapidly dividing cells. 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 …
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Selektive Amplifikation, Klonierung und Sequenzierung eines hypermutablen Bereiches des Fanconi-Anämie-A (FANCA)-Gens aus Fibroblasten-Kulturen unterschiedlicher Passagen und Genotypen
Fanconi-Anämie gehört zu den Chromosomenbruch-Syndromen und zeichnet sich durch eine genomische Instabilität aus. Die genomische Instabilität ist auch Ursache häufiger Rückmutationen. Solche kommen vermehrt in Genabschnitten hoher Sequenzvariabilität vor. Insbesondere gilt dies für das Exon 10 des …
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Funktionelle und molekulare Pränataldiagnostik der Fanconi-Anämie
… Fruchtwasserzellen zur pränatalen Diagnostik der Fanconi-Anämie ist nicht hinreichend zuverlässig und sollte aufgrund der teilweisen Verfälschung des Ergebnisses durch tetraploide Zellen und unzureichende Mitogenantwort sowie eventuell einen hohen Anteil nichtstimulierbarer Zellen (sog. noncycling …
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