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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 81 for “"gene mutations"”.

  1. Gene mutations and expression in breast cancer

    Donninger, HowardDivision of Medical Biochemistry2000

    … breast cancer is a multigenic disorder with mutations in oncogenes and tumour suppressor genes playing an important role in cellular transformation and ultimately in tumour formation. In this study, 40 breast cancer patients from the Western Cape province in South Africa and 4 breast cancer …

    cape-town Repository record

  2. Analysis of driver gene mutations in oesophageal squamous cell carcinoma

    Shipanga, Hendrina Nelao MwiiweteDepartment of Integrative Biomedical Sciences2025

    … on 67 samples. The mRNA levels of selected genes in OSCC were quantitated by RT-qPCR. KYSE30 cells were used for siRNA-mediated knockdown experiments targeting p14ARF and p16INK4a in OSCC. In silico structural analysis of missense mutations in p14ARF and p16INK4a was conducted using UCSF …

    cape-town Repository record

  3. Risk Reduction Decision Making in Women with BRCA1/2 Gene Mutations

    King, Heidi MDigital Commons @ University of South Florida2007

    With technological advances in testing for gene mutations, a new population of BRCA1/2 women is becoming aware of their increased risk for developing breast and/or ovarian cancer. A salient issue these women face is which risk-reducing option to choose. Little is known about the decision making …

    usf Repository record

  4. MODELING INFERTILITY: SINGLE GENE MUTATIONS AND CONSEQUENCES FOR GERM CELL DEVELOPMENT

    Chotiner, Jessica2022

    … is a growing global healthcare concern. Genetic causes account for a large percent of infertility cases, and in some instances, single-gene mutations are sufficient to cause infertility in humans. To further our understanding of certain single gene causes of infertility, we studied the …

    penn Repository record

  5. Screening for thiopurine s-methyltransferase (TPMT) gene mutations in South Africa

    Olufadi, RasaqDivision of Chemical Pathology2002

    … with conventional doses of thiopurine drugs. Genetic polymorphism in the TPMT gene is an important determinant of mercaptopurine toxicity. Patients with mutations in the TPMT gene have a less efficient methylation process, and are therefore, predisposed to severe myelosuppression.

    cape-town Repository record

  6. Analysis of TNFRSF5 gene mutations and splicing variants in CD40 receptor regulation

    Caraffi, Stefano Giuseppe <1977>Alma Mater Studiorum - Università di Bologna2007

    bologna Repository record

  7. Integrated Machine Learning and Bioinformatics Approaches for Prediction of Cancer-Driving Gene Mutations

    Odeyemi, Oluyemi

    <p>Cancer arises from the accumulation of somatic mutations and genetic alterations in cell division checkpoints and apoptosis, this often leads to abnormal tumor proliferation. Proper classification of cancer-linked driver mutations will considerably help our understanding of the molecular …

    chapman Repository record

  8. COMPARATIVE CELL BASED FUNCTIONAL ANALYSIS OF KEY WNT/BETA-CATENIN PATHWAY GENES AND GENE MUTATIONS

    Manring, Heather ReneeWake Forest University2012

    … activates transcription of its target genes by binding TCF/LEF transcription factors. Aberrant Wnt/Beta-catenin signaling activity leads to misregulation of proliferation and metabolic pathways and has been linked to a number of diseases.

    wfu Repository record

  9. The Impact of Selected Gene Mutations to the Activation and DNA Binding Activity of the Transcription Factor VraR

    Tajbakhsh, Ghazal2018

    … (vancomycin or -lactams) and regulates a set of genes. We have undertaken the study of the role of certain amino acids in the function of VraR, which undergo mutation in clinical S. aureus resistant strains and analyzed their effects on the VraSR signal transduction mechanism. In particular, we …

    york Repository record

  10. Molecular testing for predictive purposes of epidermal growth factor receptor (EGFR) gene mutations in advanced Non Small Cell Lung Cancer (NSCLC) patients

    Piva, Roberto, Di Bello, CristianaUniversità degli Studi di Torino2019

    unito Repository record

  11. RAS, KIT, FLT3 and JAK2 gene mutations in Acute Myeloid Leukemia (AML) with inv(16) and t(8;21): Incidence and relevance on clinical outcome

    Du, JuanUniversität Ulm

    ulm-diss Repository record

  12. Breast cancer, medical imaging, and cancer genetics. A new genetic concept regarding the causes and prevention strategies of cancer is presented

    Rasheed, Mohammed E.H.University of Bradford2021

    … 10% of all cancers are caused by inherited gene mutations which may cause cancer to run in families. Though, majority of cancer cases (up to 90%) are caused by acquired gene mutations which may also appear to run in families when family members share a particular environment or exposure. …

    bradford Repository record

  13. A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy

    이, 종빈2014

    … by intellectualdisability,epilepsy,and generalized muscle weakness of early childhood onset. I performed several conventional genetic tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I …

    ajou Repository record

  14. Lab-on-cell and cantilever-based sensors for gene analysis

    Odorizzi, LaraUniversità degli studi di Trento2010

    Nowadays, both gene mutations detection and function investigation are expected to assume a key role in diseases understanding and in many other biotechnological fields. In fact, gene mutations are often cause of genetic diseases and gene function analysis itself can help to have a broader vision …

    trento Repository record

  15. Krūties vėžio magnetinio rezonanso vaizdo tekstūros analizė /

    Kaniauskas, Tomas,Institutional Repository of Vilnius University2024

    … of breast cancer linked to BRCA1 and BRCA2 gene mutations and to identify precise radiomic features that could develop new non-invasive breast cancer diagnostic approaches, oriented at genetics. Methods: A prospective analysis of MRI radiomic features and genetic data from 42 patients …

    vilnius Repository record

  16. Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans

    Mbele, MzwandileDepartment of Medicine2014

    Introduction: Little is known about the molecular genetics of cardiomyopathy in Africans. Aims: to (I) determine the prevalence of desmosomal gene mutations in arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) in desmosomal protein genes (i.e., plakophilin 2, …

    cape-town Repository record

  17. Identification of Familial Wilms Tumor Predisposition Genes Using Whole Genome Sequencing

    Palculict, Timothy B2016

    … cancers. The etiology of Wilms tumor is heterogeneous with multiple genes known to have an effect on Wilms tumor development; however, these genes are rarely associated with familial Wilms tumor. Gene mutations in <em>WT1</em>, <em>WTX</em>, <em>CTNNB1</em> and <em>TP53</em> are observed in a …

    uthsc Repository record

  18. Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing

    Keenan, Lisa A.University of North Texas2002

    … to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological …

    unt Repository record

  19. TOWARDS AN UNDERSTANDING OF GENETIC SELECTION IN BREAST CANCER

    Park, Nicole I.2010

    … genomes accumulate chromosomal abnormalities and gene mutations but must maintain the ability to survive in vitro. We sought evidence in breast cancer that genetic selection acts to maintain tumour survival. Analysis of genomes from 243 breast tumours revealed 766 unstable and 812 stable …

    uwo Repository record

  20. Identifying modifier genes in SMA model mice

    Xu, Weiting

    … 1 in 5000-10000 newborns, one of the leading genetic causes of infant death in USA. Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. Mutations in SMN1 (Motor Neuron 1) mainly causes …

    njit Repository record

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