A5078148817- Cancer-related molecular mechanisms research
- Hearing, Cochlea, Tinnitus, Genetics
- Viral-associated cancers and disorders
- RNA modifications and cancer
- Connexins and lens biology
- RNA regulation and disease
- HIV Research and Treatment
- Biochemical and Molecular Research
- Lymphoma Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Immune Cell Function and Interaction
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Spine and Intervertebral Disc Pathology
- Developmental Biology and Gene Regulation
- MicroRNA in disease regulation
- Circular RNAs in diseases
- TGF-β signaling in diseases
- Cytomegalovirus and herpesvirus research
- Retinal Development and Disorders
- Clinical practice guidelines implementation
University of Cape Town
2020-2025
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes three affected siblings presenting non-syndromic (NS) HL five unaffected members a consanguineous Ghanaian family. Analysis exome sequence data was performed all one family members. In-depth genetic cellular characterization were to investigate biological significance implicated variant using bioinformatic tools cell-based experimentation....
HIV-1 infection often leads to the development of co-morbidities including cancer. Burkitt lymphoma (BL) is one most over-represented non-Hodgkin among HIV-infected individuals, and displays a highly aggressive phenotype in this population group, with comparatively poorer outcomes, despite these patients being on anti-retroviral therapy. Accumulating evidence indicates that molecular pathogenesis HIV-associated malignancies unique, components virus playing an active role driving oncogenesis,...
Viruses and viral components have been shown to manipulate the expression of host microRNAs (miRNAs) their advantage, in some cases play essential roles cancer pathogenesis. Burkitt lymphoma (BL), a highly aggressive B-cell derived cancer, is significantly over-represented among people infected with HIV. This study adds accumulating evidence demonstrating that virus plays direct role promoting oncogenesis. A custom miRNA PCR was used identify 32 miRNAs were differently expressed cells...
Hearing impairment (HI) is a sensory disorder with prevalence of 0.0055 live births in South Africa. DNA samples from African family presenting progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and novel monoallelic variant REST [c.1244GC; p.(C415S)], was identified as the putative causative variant. The co-segregation confirmed Sanger Sequencing. absent databases, 103 healthy controls, 52 probands isolated HI. In silico analysis indicates that...
Background/Aim: Activation-induced cytidine deaminase (AID) is a DNA modifying enzyme which has an essential function in promoting antibody diversification. Its overexpression strongly associated with B-cell derived malignancies including Burkitt lymphoma, where AID required for the characteristic c-MYC/IGH translocation. This study aimed at defining AID's oncopathogenic role still poorly understood. Materials and Methods: We created over-expressing knock-down cell culture models of AID,...
We have previously reported CLIC5A and SLC12A2 variants in two families from Cameroon Ghana, segregating non-syndromic hearing impairment (NSHI). In this study, biological assays were performed to further functionally investigate the pathogenicity of CLIC5 [c.224T>C; p.(L75P)] SCL12A2 [c.2935G>A: p.(E979K)] variants. Ectopic expression proteins a cell model shows that compared wild-type, both overexpressed. The mutant protein appears as aggregated perinuclear bodies while wild-type was...
Abstract Burkitt lymphoma (BL) is one of the most common HIV-associated lymphomas. This cancer represents frequent causes mortality among HIV+ people in Southern Africa, which has highest incidence HIV/AIDS worldwide. As case for Kaposi sarcoma, recent reports associate an oncogenic function with HIV development. study explores potential HIV-1 protein Transactivator transcription (Tat) BL via its ability to manipulate expression c-MYC and AID, two key drivers disease BL. The Tat influence...