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Browsing by Author "Chimusa, Emile"

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A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Generalizability of Polygenic Risk Score across African populations

Author: Majara, Lerato Charlotte Date: 2021 African populations are vastly underrepresented in genetic studies despite having the most genetic variation globally and facing wide-ranging environmental exposures. Most of these studies have been conducted in populations of European (EUR) ... Read more
Genetic diversity and population structure within Botswana: association with HIV-1 infection

Author: Thami, Prisca Kerapetse Date: 2021 Southern Africa is disproportionately affected by HIV-1, with Botswana being among the most affected countries. The interindividual heterogeneity in susceptibility or resistance to HIV-1 and progression upon infection is attributable to, among ... Read more
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania

Author: Nkya, Siana ; Mwita, Liberata ; Mgaya, Josephine ; Kumburu, Happiness ; van Zwetselaar, Marco ; Menzel, Stephan ; Mazandu, Gaston K ; Sangeda, Raphael ; Chimusa, Emile ; Makani, Julie Date: 05 Jun 2020 Background Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one ... 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
Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry

Author: Manyisa, Noluthando Date: 2018 Introduction: Hearing impairment occurs when a child has hearing loss greater than 30dB in their better hearing ear and an adult cannot detect sound lower than 40dB in the better hearing ear. It is a common sensory disorder that affecting ... Read more
Whole genome sequencing approach to identifying genetic risk factors underlying anterior cruciate ligament injuries in a twin family study

Author: Feldmann, Daneil Date: 2022 Background: Predisposition to ACL rupture is multifactorial, resulting from a complex interplay of intrinsic and extrinsic risk factors. Variation in the genome is now considered a key intrinsic risk factor, but the majority of currently ... Read more

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Browsing by Author "Chimusa, Emile"

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