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 28 for “"Chromosomal translocation"”.
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Effect of 1B/1R Chromosomal Translocation on Dough Rheology of Soft Red Winter Wheat Flour
… baking performance. The presence of the 1B/1R chromosomal translocation in wheat has been reported to provide disease resistance, but produce sticky doughs. The 1995-1996 and 1996-1997 SRWW flours were subjected to farinograph analysis and dough stickiness testing. Dough stickiness was …
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Investigating putative pathogenic mechanisms within a family in which a chromosomal translocation confers risk of major mental illness
… disorder co-segregates with a balanced autosomal translocation (t(1;11)(q42.1;q14.3). The translocation disrupts Disrupted-in-Schizophrenia-1 (DISC1) and DISC2 on chromosome 1, and DISC1FP1 (Disrupted-in-Schizophrenia-Fusion-Partner-1), also known as Boymaw, on chromosome 11. DISC1 is a leading …
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Role of Abberant Proteolysis in the Pathogenesis of APL
… by PML-RARN1, a fusion protein resulting from chromosomal translocation involving the promyelocytic leukemia (PML) and the retinoic acid receptor N1 (RARN1) genes. PML-RARN1 promotes misfolding of nuclear hormone receptor corepressor (N-CoR) and that accumulation of misfolded N-CoR in the ER …
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Mechanistic Study of Fragile Site Breakage by Investigating RET/PTC Rearrangements, a Common Cause of Papillary Thyroid Carcinoma
Chromosomal fragile sites are non-random regions of the genome with a predisposition to the formation of DNA breaks. Common fragile sites, which are found in all individuals, often coincide with regions mutated in cancer, and therefore are believed to play a role in carcinogenesis. However, there …
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TB-RBP protein : sitting at the crossroads of sex and disease
… DNA sequences at breakpoint junctions of chromosomal translocations of lymphoid malignancies. Trax, structural homologue of TB-RBP, has already been shown to interact with the single stranded DNA -/RNA - binding protein TB-RBP. Co-crystallization of TB-RBP/DNA complex may give us insight …
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The Genetic Basis of Susceptibility to Therapy-related Leukemia in Mice
… identified for its involvement in a chromosomal translocation with nucleophosmin (NPM) that is restricted to AML and myelodysplastic (MDS) patients. We show that MLF1 is pro-apoptotic and decreases the viability of hematopoietic cells.</p>
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The role of the leukemia-associated ETO homologue repressors in hematopoiesis
… is observed in acute myeloid patients with the chromosomal translocation t(8;21). Cells with this chimeric protein have impaired granulocytic and erythroid differentiation with accumulation of myeloblasts. The transcriptional co-repressor ETO (Eight Twenty One) was identified from the cloning of …
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A cytogenetic map for the genomic studies of the West Nile Virus vector Culex tarsalis
… unknown if this difference is associated with chromosomal rearrangements. The objectives of this study were to develop a high-resolution map for the precise physical genome mapping in Cx. tarsalis and to compare mitotic chromosomes between three species of Culicinae mosquitoes. Using mitotic …
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Functional Modeling of Genes Upregulated in Chronic Myeloid Leukemia
… BCR/ABL1 fusion gene that is formed through the chromosomal translocation t(9;22). CML is currently successfully treated with tyrosine kinase inhibitors targeting the ABL1 kinase domain. However, the CML stem cells are insensitive to this drug and a large fraction of patients will have relapse …
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NDE1 in the DISC1 pathway: interactions of schizophrenia-related proteins
… as being directly disrupted by a balanced chromosomal translocation that cosegregates with schizophrenia and other major mental illness a large Scottish family. The DISC1 protein is believed to act as a molecular scaffold within the cell, binding to a large number of other proteins. Three …
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Investigating the genome of Anaplastic Lymphoma Kinase-positive Anaplastic Large Cell Lymphoma
… Lymphoma Kinase (ALK) as the consequence of a chromosomal translocation. Patients diagnosed with ALCL are still treated with toxic multi-agent chemotherapy and as many as 25-50% of patients relapse. It is clear that continued adaption of current therapies will likely not improve these …
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Molecular analysis of transcriptional properties of Pbx1 and E2a-Pbx1
E2a-Pbx1 is an oncogene formed by the t(1;19) chromosomal translocation, which is found in 20% of pediatric pre-B acute lymphoblastic leukemias. E2a-Pbx1 joins exons encoding the amino-terminal transactivation domain of E2a with those encoding the carboxyterminal homeodomain of Pbx1, which binds …
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Searching for the missing T Cell Receptor (TCR) in Anaplastic Large Cell Lymphoma (ALCL): Surplus to requirements or a protagonist in lymphomagenesis?
… ALCL, ALK+, ALK is expressed as the result of a chromosomal translocation generating Nucleophosmin 1(NPM)-ALK, which is considered the main driver. ALCL have an unusual immunophenotype; they rarely express a T cell receptor (TCR), but are often positive for CD4 and produce cytotoxic proteins such …
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Examining the effect of CBP on the E2A-PBX1 and HOXB4 interaction
The E2A-PBX1 fusion gene results from the t(1;19) chromosomal translocation that is found in 25% of pre-B-cell cases of acute lymphoblastic leukemia (ALL). The resulting encoded product contains the transactivation domains of E2A, a Class I basic helix-loop-helix transcription factor, and most of …
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Development of New Photocrosslinking Approaches to Discover Binding Partners of O-GlcNAc-Modified Proteins
… and NUP98 leukemogenic fusions, produced under chromosomal translocation, to gain insight into the mechanism of NUP98 fusion-mediated cell transformation in leukemia. The wild-type nucleoporins are associated with nuclear trafficking. In chapter 2, I demonstrated both NUP98 and NUP98 fusions are …
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The Role of AF9 and AF9-Mediated Protein Interactions in Hematopoiesis and Leukemogenesis
<p>The AF9 protein is one of the most common chromosomal translocation partners of the MLL gene in MLL leukemia. Wild-type AF9 is a member of the pTEFb transcription elongation complex, and interacts with gene regulatory proteins such as AF4/AF5q31, DOT1L, Pc3/CBX8 and BCoR. These interactions are …
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Towards a B-Lymphoid Model of E2A-PBX1-Mediated Leukemogenesis: Evaluating the Impact of Hematopoietic Cell of Origin on the Transformation Properties of a Leukemogenic Transcription Factor
The t(1;19) chromosomal translocation is present in 5% of acute lymphoblastic leukemia (ALL) cases and leads to expression of the oncogenic transcription factor, E2A-PBX1. Although t(1;19) is exclusively associated with pre-B ALL in clinical cases, murine models produce myeloid or T-lymphoid …
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Characterization of Transcription Factor-Coactivator Complexes in Acute Lymphoblastic Leukemia
… factor E2A-PBX1 is expressed as a result of the chromosomal translocation 1;19. E2A-PBX1 contains the activation domains of E2A and most of the PBX1 protein, including the DNA-binding homeodomain. These structural features suggest a hypothetical oncogenic model in which E2A-PBX1 binds DNA, …
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The role of the BARD1 BRCT domains in the DNA damage response
… (HR) as loss of BRCA1 results in aberrant HR, chromosomal translocation and cancer. BRCA1 is almost always found in the nucleus bound to BARD1. BARD1 retains BRCA1 in the nucleus and enhances the E3 ubiquitin ligase function of BRCA1. The importance of BRCA1 in the repair of DNA DSBs has been …
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Uniparental disomy as a cause for congenital malformations and or developmental delay in inherited apparently balanced chromosomal rearrangements
Chromosomal translocations are said to be balanced if there is no apparent gain or loss of genetic material. Apparently balanced chromosomal rearrangements are usually associated with a normal phenotype [Therman 1986, Daniel 1988]. However the frequency of mental retardation and congenital …
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