Search Results - pathogenic non-coding (variance OR (variable OR variables))

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  1. Investigating maize inbred line responses following infection by the Mycotoxigenic fungus Fusarium verticilliodes by Rose, Lindy Joy

    Published 2016
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    Thesis
  2. Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon by Wonkam, Tingang Edmond

    Published 2022
    “…This was addressed by 1) Establishing the current status of knowledge on HI in Africa (in terms of prevalence, aetiologies, and genetics aspects) with a particular focus on Cameroon, and assessing the contribution of connexin genes to HI in humans at a global level, through systematic literature reviews; 2) Revisiting the contribution of GJB2 and GJB6 genes to NSHI in 29 multiplex Cameroonian families with NSHI and with strong evidence of non-environmental causes, through targeted gene sequencing and specific multiplex polymerase chain reaction (PCR); 3) Using multiplex ligand-dependent probe amplification (MLPA) technique to investigate the most common variants associated with DMD in Cameroon and assess their possible implication in HI in humans; 4) Performing whole exome sequencing (WES) on 2 Cameroonian multiplex families with NSHI and who tested negative for pathogenic variants in GJB2 and GJB6, to identify the underlying causative genes; 5) Performing in-depth interviews to gain an understanding of the challenges faced by people with HI in Cameroon, their understanding of the causes of hearing impairment (HI), and how challenges could be remedied to improve the quality of life of persons with HI. …”
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    Thesis
  3. Functional Genome-wide Association Studies (fGWAS) and genomics landscape of signatures of polygenic adaptation in Botswana populations with HIV-1 C infection by Choga, Wonderful Tatenda

    Published 2023
    “…Based on functional predictions, it was assigned to a non-coding transcript exon of the MT-RNR2 gene's 16S ribosomal RNA (rRNA), and it was regarded as having potential pathogenicity. …”
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  4. Differential proteomic profiling towards elucidation of TB-IRIS pathogenesis by Peyper, Janique Michelle

    Published 2022
    “…Proteomic data were additionally analysed to detect Mtb proteins, preliminarily analyse variable post-translational modifications (PTMs) of interest, and identify candidate prognostic and diagnostic biomarkers. …”
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    Thesis