Publications

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Submitted
Heikkinen, AM, Nwhator SO, Rathnayake N, Mäntylä P, Vatanen P, Sorsa T.  Submitted.  Pilot study on oral health status as assessed by an active matrix metalloproteinase-8 chairside mouthrinse test in adolescents. Journal of Periodontology. 87:36–40., Number 1 Abstract
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Kroonen, JS, Kruisselbrink AB, Briaire-de Bruijn IH, Olaofe OO, VMG J.  Submitted.  Supplementary Material: SUMOylation is associated with ag-gressive behavior in chondrosarcoma of bone. Abstract
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2021
Sartorius, B, VanderHeide J, Yang M, Goosmann E, Hon J, Haeuser E, Chowdhury MAK, Perkins S, Jahagirdar D, Schaeffer L, Serfes A, LeGrand K, Abbastabar H, Hailemariam Z, Eshete A, Abu-Gharbieh E, Accrombessi M, Adebayo O, Adegbosin A.  2021.  Subnational mapping of HIV incidence and mortality among individuals aged 15–49 years in sub-Saharan Africa, 2000–18: a modelling study, 2021/06/05. Abstract
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Sartorius, B, VanderHeide J, Yang M, Goosmann E, Hon J, Haeuser E, Chowdhury MAK, Perkins S, Jahagirdar D, Schaeffer L, Serfes A, LeGrand K, Abbastabar H, Hailemariam Z, Eshete A, Abu-Gharbieh E, Accrombessi M, Adebayo O, Adegbosin A.  2021.  Subnational mapping of HIV incidence and mortality among individuals aged 15–49 years in sub-Saharan Africa, 2000–18: a modelling study, 2021/06/01. 8:e363-e375. Abstract
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Folayan, M, El Tantawi M, Virtanen J, Feldens C, Rashwan M, Kemoli A, Villena R, Al-Batayneh O, Amalia R, Gafar B, Mohebbi S, Arheiam A, Daryanavard H, Vukovic A, Schroth R.  2021.  Correction to: An ecological study on the association between universal health service coverage index, health expenditures, and early childhood caries, 2021/05/26. 21 Abstract
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Ammar, N, M. Aly N, Folayan M, Khader Y, Mohebbi S, Attia S, Howaldt H-P, Böttger S, Virtanen J, Madi M, Maharani D, Rahardjo A, Khan I, Al-Batayneh O, Rashwan M, Pavlić V, Cicmil S, Noritake K, Galluccio G, El Tantawi M.  2021.  Perceived Preparedness of Dental Academic Institutions to Cope with the COVID-19 Pandemic: A Multi-Country Survey, 2021/02/04. 18:1445. Abstract
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Kroonen, JS, Kruisselbrink AB, Briaire-de Bruijn IH, Olaofe OO, Bovée JVMG, Vertegaal ACO.  2021.  SUMOylation Is Associated with Aggressive Behavior in Chondrosarcoma of Bone, 2021. 13(15):3823.: Multidisciplinary Digital Publishing Institute Abstract
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Daniyan, M, Adeyipo T, Oyemitan I, Okwuese P, Victor O E, Akanmu M.  2021.  In vivo and in silico studies of Dennettia tripetala essential oil reveal the potential harmful effects of habitual consumption of the plant seed, 08. Toxicology Reports. 8 Abstract
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Lynch, K, Omisore A, Famurewa O, Olasehinde O, Odujoko O, Vera J, Kingham T, Alatise O, Egberongbe A, Morris E, Atkinson T, Sutton E.  2021.  Designing Participatory Needs Assessments to Support Global Health Interventions in Time-Limited Settings: A Case Study From Nigeria, 05. International Journal of Qualitative Methods. 20:160940692110024. Abstract
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S.A.Adewinbi, B.A.Taleatu, V.M.Maphiri, O.Fasakin, E.Omotoso, K.O.Oyedotun, N.Manyala.  2021.  Characterization of two-way fabricated hybrid metal-oxide nanostructured electrode materials for photovoltaic and miniaturized supercapacitor applications. Solid State Sciences. 119:106699.
Ogundapo, SS, Soniran OT, Vining-Ogu CI, Ngobidi KC, Obasi NA, Olugbue VU, Adegbola JA, Ogundapo AF.  2021.  Data on pilot assessment of efficacy of artemether lumefantrine when co-administered with ciprofloxacin in malaria-typhoid co-infected patients. Data in brief. 34:106732.: Elsevier Abstract
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2020
Jafarinia, M, Vos T, Lim S, Naghavi M, Murray C, Onwujekwe O, Oancea B, Aravkin A, Zheng P, Cristiana A, Abbas K, Abbasi-Kangevari M, Abd-Allah F, Abdelalim A, Abdollahi M, Abdollahpour I, Abegaz K, Abolhassani H, Aboyans V, Ghajar A.  2020.  Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019, 2020/10/16. 396:1204-1222. Abstract
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Ammar, N, M. Aly N, Folayan M, Khader Y, Virtanen J, Al-Batayneh O, Mohebbi S, Attia S, Howaldt H-P, Böttger S, Maharani D, Rahardjo A, Khan I, Madi M, Rashwan M, Pavlić V, Cicmil S, Choi Y-H, Joury E, El Tantawi M.  2020.  Behavior change due to COVID-19 among dental academics-The theory of planned behavior: Stresses, worries, training, and pandemic severity, 2020/09/29. 15::e0239961. Abstract
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Folayan, M, El Tantawi M, Vukovic A, Schroth R, Alade M, Mohebbi S, Al-Batayneh O, Arheiam A, Amalia R, Gaffar B, Onyejaka N, Daryanavard H, Kemoli A, Medina A, Díaz M, Grewal N.  2020.  Governance, maternal well-being and early childhood caries in 3-5-year-old children, 2020/06/05. 20:166. Abstract
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Alhajj, M, Omar R, Khader Y, Celebić A, El Tantawi M, Folayan M, Al-Maweri S, Halboub E, Alkheraif A, Sousa-Neto M, Vukovic A, Arheiam A, Ismail I, Abdullah A, Amran A, Kohli S, Ariffin Z, Kocaelli H, Khan DS, Muhammad F.  2020.  Happiness among dentists: a multi-scale, multi-national study from 21 countries, 2020/06/05. 70 Abstract
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Folayan, M, El Tantawi M, Schroth R, Vukovic A, Kemoli A, Gaffar B, Obiyan M, Group E.  2020.  Associations between early childhood caries, malnutrition and anemia: a global perspective, 2020/05/04. 6:16. Abstract
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Oluwole, OG, Kuivaniemi H, Abrahams S, Haylett WL, Vorster AA, Van Heerden CJ, Kenyon CP, Tabb DL, Fawale MB, Sunmonu TA, Ajose A, Olaogun MO, Rossouw AC, Van Hillegondsberg LS, Carr J, Ross OA, Komolafe MA, Tromp G, Bardien S.  2020.  Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients, 2020. BMC Medical Genetics. 21(1) Abstract

Background: The prevalence of Parkinson's disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan African populations have the potential to reveal novel insights into the pathobiology of PD. In this study, we aimed to characterise the genetic variation in known and novel PD genes in a group of Black South African and Nigerian patients. Methods: We recruited 33 Black South African and 14 Nigerian PD patients, and screened them for sequence variants in 751 genes using an Ion AmpliSeq™ Neurological Research panel. We used bcftools to filter variants and annovar software for the annotation. Rare variants were prioritised using MetaLR and MetaSVM prediction scores. The effect of a variant on ATP13A2's protein structure was investigated by molecular modelling. Results: We identified 14,655 rare variants with a minor allele frequency ≤ 0.01, which included 2448 missense variants. Notably, no common pathogenic mutations were identified in these patients. Also, none of the known PD-associated mutations were found highlighting the need for more studies in African populations. Altogether, 54 rare variants in 42 genes were considered deleterious and were prioritized, based on MetaLR and MetaSVM scores, for follow-up studies. Protein modelling showed that the S1004R variant in ATP13A2 possibly alters the conformation of the protein. Conclusions: We identified several rare variants predicted to be deleterious in sub-Saharan Africa PD patients; however, further studies are required to determine the biological effects of these variants and their possible role in PD. Studies such as these are important to elucidate the genetic aetiology of this disorder in patients of African ancestry.

Lynch, K, Omisore A, Atkinson T, Famurewa O, Vera J, Kingham T, Alatise O, Hricak H, Morris E, Sutton E.  2020.  Multistakeholder Needs Assessment to Inform the Development of an mHealth-Based Ultrasound-Guided Breast Biopsy Training Program in Nigeria, 11. JCO Global Oncology. 6:1813-1823. Abstract
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Muzamil, H, Dix-Peek T, Duarte R, Dickens C, Naidoo S, Vachiat A, Grinter S, Manga P, Naicker S.  2020.  Association of chronic inflammation and accelerated atherosclerosis among an indigenous black population with chronic kidney disease, 07. PLOS ONE. 15:e0232741. Abstract
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Muzamil, H, Duarte R, Dickens C, Dix-Peek T, Naidoo S, Vachiat A, Grinter S, Manga P, Naicker S.  2020.  APOL1 Genetic Variants Are Associated with Serum-Oxidized Low-Density Lipoprotein Levels and Subclinical Atherosclerosis in South African CKD Patients, 06. Nephron. 144:1-10. Abstract
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2019
Salpietro, V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S et al..  2019.  AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders, 2019. Nature Communications. 10(1) Abstract

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.

Chelban, V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G et al..  2019.  PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation, 2019. Annals of Neurology. 86(2) Abstract

Objective: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. Methods: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. Results: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5′-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. Interpretation: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225–240.

Muzamil, H, Duarte R, Dickens C, Dix-Peek T, Naidoo S, Vachiat A, Grinter S, Manga P, Naicker S.  2019.  Interleukin-6 gene polymorhisms and interleukin-6 levels are associated with atherosclerosis in CKD patients, 08. Clinical Nephrology. 93 Abstract
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Olasehinde, O, Alatise O, VL A, Olajide O, Omisore A, Boutin‐Foster C.  2019.  Barriers to mammography screening in Nigeria: A survey of two communities with different access to screening facilities, 01. European Journal of Cancer Care. 28 Abstract
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2018
Oguntola, S, Muzamil H, Duarte R, Dix-Peek T, Dickens C, Olorunfemi G, Vachiat A, Paget G, Manga P, Naicker S.  2018.  Atherosclerotic vascular disease and its correlates in stable black South African kidney transplant recipients, 07. International Journal of Nephrology and Renovascular Disease. Volume 11:187-193. Abstract
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