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Showing 1 to 17 of 17 for “"Fanconi anemia (FA)"”.
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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
… 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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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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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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Investigating the role of protein ubiquitylation in the maintenance of genome stability
… that loss-of-function mutations in HR factors are commonly seen in human cancers. In this thesis, I report the use of a key hallmark of HR-deficient cells, namely synthetic lethality with the poly-ADP ribose polymerase (PARP) inhibitor olaparib, as a means of screening for new HR …
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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
… for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the risk conferred by <i>BRCA1</i> and <i>BRCA2</i> mutations suggests the presence of genetic modifiers of this risk. Therefore, the identification and …
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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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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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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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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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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… evolved to protect against genotoxic threats. FANCD2 and FANCI associated nuclease 1 (FAN1) has roles in protection against two major threats to genomic stability: DNA interstrand crosslinks (ICLs), and the expansion of trinucleotide repeats. ICLs are highly deleterious lesions that disrupt …
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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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Separate Roles of FAN1 and Fanconi Anemia Proteins in DNA Interstrand Crosslink Repair and Human Disease
… 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 (FAN1) to the repair of ICL …
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Caretaker-Gen-Syndrome
… +3, +5 und -6 identifiziert werden, die ebenfalls in völlig aberrantem Spleißen resultieren. Daten weiterer Arbeitsgruppen lassen vermuten, daß tatsächlich ~ 50 Prozent aller Spleißaberrationen im ATM-Gen auf Mutationen außerhalb der konservierten Dinukleotidbereiche (gt und ag) zurückführen …
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Studio del meccanismo di riparazione del DNA nelle leucemie in età pediatrica: alterazioni dei geni NBS1, Fancd2, Palb2 ed espressione dei geni BRCA1 e BRCA2.
… di studiare i geni coinvolti nel pathway dell'Anemia di Fanconi (FA) (BRCA1, BRCA2, FANCD2 e PALB2), che coopera con il gene della sindrome da rottura di Nijmegen (NBS1). Abbiamo voluto la correlazione tra alterazioni del meccanismo di riparazione del DNA e l’insorgenza di recidive e/o con …