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Browsing by Author "Mowla, Shaheen"

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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Author: Wonkam-Tingang, Edmond ; Schrauwen, Isabelle ; Esoh, Kevin K ; Bharadwaj, Thashi ; Nouel-Saied, Liz M ; Acharya, Anushree ; Nasir, Abdul ; Adadey, Samuel M ; Mowla, Shaheen ; Leal, Suzanne M ; Wonkam, Ambroise Date: 23 Oct 2020 DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified ... Read more c b
Chemotherapeutic drugs, 5-fluorouracil and cisplatin, differentially affect exprssion of drug metabolising enzyme genes in an oesophageal cancer cell line

Author: Hassen, Naseeha Date: 2014 Cancer is a leading cause of death worldwide. Oesophageal cancer in particular is the sixth most common cause of cancer deaths globally and its incidence and mortality rates in Southern Africa are among the highest in the world. One of the ... Read more
Development of a rapid diagnostic screen for telomerase mutations associated with immunosuppressive therapy failure in patients with aplastic anaemia

Author: Xulu, Khethelo Richman Date: 2013 Includes abstract. Includes bibliographical references. Read more
Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing

Author: Lebeko, Kamogelo Date: 2019 Hearing Loss (HL) is one of the highest contributors to disability worldwide. The highest incidence of the disease is seen in developing countries, such as those in subSaharan Africa (SSA). Patients affected with disabling HL are reported to ... Read more
HIV alters the expression of miRNA hsa-miR-200c-3p in B-cells, leading to enhanced migration of lymphoma cells

Author: Ramorola, Beatrice Relebogile Date: 2018 Background: The sub-Saharan African region is one that is affected most by the HIV/AIDS pandemic, with South Africa being the country with the highest number of infected individuals at 7.06 million. Infection with HIV is often associated with ... Read more
HIV Nef enhances the expression of oncogenic c-MYC and activation-induced cytidine deaminase in Burkitt lymphoma cells, promoting genomic instability

Author: Mdletshe, Nontlantla ; Nel, Andrew ; Shires, Karen ; Mowla, Shaheen Date: 04 Sep 2020 Background: Non-Hodgkin lymphoma is of high prevalence among HIV-infected people. In particular, the incidence of HIV-associated Burkitt lymphoma (BL) remains high despite the advent of Highly Active Anti-Retroviral Therapy. Recent evidence ... Read more
Investigation of the role of the DNA-modifying enzyme, activation-induced cytidine deaminase (AID), in cancer

Author: Godsmark, Grant Kenneth Date: 2016 The DNA-editing enzyme, Activation-Induced cytidine Deaminase (AID) is essential for antibody diversification and plays an important role in immunity. AID is specifically expressed in activated B-cells and mutates targeted DNA sites, diversifying ... Read more
Modulation of Cellular MicroRNA by HIV-1 in Burkitt Lymphoma Cells—A Pathway to Promoting Oncogenesis

Author: Ramorola, Beatrice Relebogile ; Goolam-Hoosen, Taahira ; Alves de Souza Rios, Leonardo ; Mowla, Shaheen Date: 24 Aug 2021 Viruses and viral components have been shown to manipulate the expression of host microRNAs (miRNAs) to their advantage, and in some cases to play essential roles in cancer pathogenesis. Burkitt lymphoma (BL), a highly aggressive B-cell derived ... Read more c b
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Author: Manyisa, Noluthando ; Schrauwen, Isabelle ; de Souza Rios, Leonardo Alves ; Mowla, Shaheen ; Tekendo-Ngongang, Cedrik ; Popel, Kalinka ; Esoh, Kevin ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Wonkam-Tingang, Edmond ; Kock, Carmen de ; Dandara, Collet ; Leal, Suzanne M. ; Wonkam, Ambroise Date: 06 Nov 2021 Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome ... Read more c b
Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs

Author: Mnika,Khuthala Date: 2020 Sickle cell disease (SCD) is a common blood disease caused by a single nucleotide substitution (c.20T>A, p.Glu6Val) in the beta globin gene on chromosome 11. The prevalence of the disease is high throughout large areas in sub-Saharan Africa, ... Read more
Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease

Author: Pule, Gift Dineo Date: 2016 Sickle Cell Disease (SCD) is a growing global problem with firm roots in sub-Saharan Africa (SSA) representing over 3/4 of the global burden of the disease. The prevalence of the sickle mutation (HbS) in SSA has been amplified by the partial ... Read more
The biological effects of HIV-1 Nef on the development of B-cell Lymphoma

Author: Ahmed, Riyaadh Date: 2022 The incidence of HIV-associated cancers is significantly higher within the South African population compared to elsewhere in the world due to South Africa having one of the highest HIV burdens compared to the rest of the world. Burkitt lymphoma ... Read more
Understanding the molecular pathogenesis of HIV-associated Burkitt Lymphoma – the impact of HIV-1 protein Tat on lymphoma driver genes

Author: Alves, de Souza Rios Leonardo Date: 2021 Burkitt Lymphoma (BL) is a B cell non-Hodgkin lymphoma that occurs as three distinct subtypes, namely: endemic, sporadic, and immunodeficiency/HIV-associated. This cancer represents a frequent cause of mortality among HIV+ people in Southern ... Read more

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Browsing by Author "Mowla, Shaheen"

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