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1. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

Author

Koko, Mahmoud, primary, Elseed, Maha A., additional, Mohammed, Inaam N., additional, Hamed, Ahlam A., additional, Abd Allah, Amal S. I., additional, Yahia, Ashraf, additional, Siddig, Rayan A., additional, Altmüller, Janine, additional, Toliat, Mohammad Reza, additional, Elmahdi, Esra O., additional, Amin, Mutaz, additional, Ahmed, Elhami A., additional, Eltazi, Isra Z. M., additional, Elmugadam, Fatima A., additional, Abdelgadir, Wasma A., additional, Eltaraifee, Esraa, additional, Ibrahim, Mohamed O. M., additional, Ali, Nabila M. H., additional, Malik, Hiba M., additional, Babai, Arwa M., additional, Bakhit, Yousuf H., additional, Nürnberg, Peter, additional, Ibrahim, Muntaser E., additional, Salih, Mustafa A., additional, Schubert, Julian, additional, Elsayed, Liena E. O., additional, and Lerche, Holger, additional

Published
2024
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4. Enabling the genomic revolution in Africa

Author

Rotimi, Charles, Abayomi, Akin, Abimiku, Alash'le, Adabayeri, Victoria May, Adebamowo, Clement, Adebiyi, Ezekiel, Ademola, Adebowale D, Adeyemo, Adebowale, Adu, Dwomoa, Affolabi, Dissou, Agongo, Godfred, Ajayi, Samuel, Akarolo-Anthony, Sally, Akinyemi, Rufus, Akpalu, Albert, Alberts, Marianne, Alonso Betancourt, Orlando, Alzohairy, Ahmed Mansour, Ameni, Gobena, Amodu, Olukemi, Anabwani, Gabriel, Andersen, Kristian, Arogundade, Fatiu, Arulogun, Oyedunni, Asogun, Danny, Bakare, Rasheed, Balde, Naby, Baniecki, Mary Lynn, Beiswanger, Christine, Benkahla, Alia, Bethke, Lara, Boehnke, Micheal, Boima, Vincent, Brandful, James, Brooks, Andrew I, Brosius, Frank C, Brown, Chester, Bucheton, Bruno, Burke, David T, Burnett, Barrington G, Carrington-Lawrence, Stacy, Carstens, Nadia, Chisi, John, Christoffels, Alan, Cooper, Richard, Cordell, Heather, Crowther, Nigel, Croxton, Talishiea, de Vries, Jantina, Derr, Leslie, Donkor, Peter, Doumbia, Seydou, Duncanson, Audrey, Ekem, Ivy, El Sayed, Ahmed, Engel, Mark E, Enyaru, John CK, Everett, Dean, Fadlelmola, Faisal M, Fakunle, Eyitayo, Fischbeck, Kenneth H, Fischer, Anne, Folarin, Onikepe, Gamieldien, Junaid, Garry, Robert F, Gaseitsiwe, Simani, Gbadegesin, Rasheed, Ghansah, Anita, Giovanni, Maria, Goesbeck, Parham, Gomez-Olive, F Xavier, Grant, Donald S, Grewal, Ravnit, Guyer, Mark, Hanchard, Neil A, Happi, Christian T, Hazelhurst, Scott, Hennig, Branwen J, Hertz-, Christiane, Fowler, Hide, Winston, Hilderbrandt, Friedhelm, Hugo-Hamman, Christopher, Ibrahim, Muntaser E, James, Regina, Jaufeerally-Fakim, Yasmina, Jenkins, Carolyn, Jentsch, Ute, Jiang, Pan-Pan, Joloba, Moses, Jongeneel, Victor, Joubert, Fourie, Kader, Mukthar, Kahn, Kathleen, Kaleebu, Pontiano, Kapiga, Saidi H, Kassim, Samar Kamal, Kasvosve, Ishmael, Kayondo, Jonathan, and Keavney, Bernard

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Medical Microbiology, Human Genome, Cancer, Infectious Diseases, HIV/AIDS, Clinical Research, Biotechnology, Rare Diseases, 2.6 Resources and infrastructure (aetiology), Aetiology, Infection, Good Health and Well Being, Africa, Disease, England, Genetics, Medical, Genome-Wide Association Study, Genomics, Health, Humans, National Institutes of Health (U.S.), United States, H3Africa Consortium, General Science & Technology
Abstract

H3Africa is developing capacity for health-related genomics research in Africa

Published
2014

9. Dispatches from a world in turmoil

Author

Fawaz, Mona, Scharifker, Benjamin R., Moraes R., Mónica, Ibrahim, Muntaser E., Moradi, Sharif, Medina, Ernesto, Maziak, Wasim, Sham, Mai Har, Hidalgo, Cecilia, and Martínez Alier, Joan

Published
2019
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10. Bi-allelic PRRT2variants may predispose to Self-limited Familial Infantile Epilepsy

Author

Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., and Lerche, Holger

Abstract

Heterozygous PRRT2variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability. In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy. We evaluated both dominant and recessive inheritance using whole exome sequencing and genomic arrays. We identified a pathogenic homozygous splice-site variant in the first intron of PRRT2[NC_000016.10(NM_145239.3):c.-65-1G > A] that segregated with the phenotype in this family. This work taps into the genetics of epilepsy in an underrepresented African population and suggests that the phenotypes of homozygous PRRT2variants may include milder epilepsy presentations without movement disorders.

Published
2024
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11. Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Author

Yahia, Ashraf, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Salih, Mustafa A., El-sadig, Sarah M., Siddig, Hassab Elrasoul, Nasreldien, Ali Elsir Musa, Abdullah, Mohamed Ahmed, Elzubair, Maha, Omer, Farouk Yassen, Bakhiet, Aisha Motwakil, Abubaker, Rayan, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Malik, Hiba, Mohamed, Mayada O. E., Elhassan, Ali A., Mohamed, Eman O. E., Ahmed, Ahmed K. M. A., Ahmed, Elhami A. A., Eltaraifee, Esraa, Hussein, Bidour K., Abd Allah, Amal S. I., Salah, Lina, Nimir, Mohamed, Tag Elseed, Omnia M., Elhassan, Tasneem E. A., Elbashier, Abubakr, Alfadul, Esraa S. A., Fadul, Moneeb, Ali, Khalil F., Taha, Shaimaa Omer M. A., Bushara, Elfatih E., Amin, Mutaz, Koko, Mahmoud, Ibrahim, Muntaser E., Ahmed, Ammar E., Elsayed, Liena E. O., and Stevanin, Giovanni

Abstract

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinformatics analysis, and candidate gene approaches to study 90 affected patients from 38 unrelated Sudanese families segregating multiple forms of SCDs. The age-at-onset in our cohort ranged from birth to 35 years; however, most patients manifested childhood-onset diseases (the mean and median ages at onset were 7.5 and 3 years, respectively). We reached the genetic diagnosis in 63% and possibly up to 73% of the studied families when considering variants of unknown significance. Combining the present data with our previous analysis of 25 Sudanese HSP families, the success rate reached 52–59% (31–35/59 families). In this article we report candidate variants in genes previously known to be associated with SCDs or other phenotypically related monogenic disorders. We also highlight the genetic and clinical heterogeneity of SCDs in Sudan, as we did not identify a major causative gene in our cohort, and the potential for discovering novel SCD genes in this population.

Published
2024
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13. Follicular Helper and Regulatory T Cells Drive the Development of Spontaneous Epstein–Barr Virus Lymphoproliferative Disorder.

Author

Ahmed, Elshafa Hassan, Lustberg, Mark, Hale, Claire, Sloan, Shelby, Mao, Charlene, Zhang, Xiaoli, Ozer, Hatice Gulcin, Schlotter, Sarah, Smith, Porsha L., Jeney, Frankie, Chan, Wing Keung, Harrington, Bonnie K., Weigel, Christoph, Brooks, Eric, Klimaszewski, Haley L., Oakes, Christopher C., Abebe, Tamrat, Ibrahim, Muntaser E., Alinari, Lapo, and Behbehani, Gregory K.

Subjects
BIOMARKERS, CYTOKINES, B cells, ANIMAL experimentation, IMMUNOCOMPROMISED patients, REGULATORY T cells, MYELOID-derived suppressor cells, EPSTEIN-Barr virus, RESEARCH funding, LYMPHOPROLIFERATIVE disorders, T cells, IMMUNOLOGIC memory, T helper cells, MICE
Abstract

Simple Summary: Over 90% of the adult population worldwide is infected with the Epstein–Barr virus (EBV). While EBV infection is associated with the development of lymphoproliferative disorders (EBV-LPD) in people with weakened immune systems, only ~20% of immunodeficient individuals develop EBV-LPD. Such clinical heterogeneity may reflect host variables that increase the risk of developing EBV-LPD. Immunodeficient mice engrafted with blood cells from EBV+ individuals develop spontaneous EBV-LPD of human B-cell origin with similar heterogeneity observed in humans. Our study aimed to investigate differences between the model's lymphoma producers (High-Incidence, HI donors) and non-lymphoma producers (No-Incidence, NI donors). HI donors showed high levels of T follicular helper (Tfh), regulatory T cells (Treg), and myeloid-derived suppressor cells compared to NI donors. Depletion of Tfh or Treg subsets delays or prevents EBV-LPD in this model. Our results reveal potential biomarkers that may help classify vulnerable patients at risk for developing EBV-LPD. Epstein–Barr virus (EBV) is a ubiquitous herpes virus associated with various cancers. EBV establishes latency with life-long persistence in memory B-cells and can reactivate lytic infection placing immunocompromised individuals at risk for EBV-driven lymphoproliferative disorders (EBV-LPD). Despite the ubiquity of EBV, only a small percentage of immunocompromised patients (~20%) develop EBV-LPD. Engraftment of immunodeficient mice with peripheral blood mononuclear cells (PBMCs) from healthy EBV-seropositive donors leads to spontaneous, malignant, human B-cell EBV-LPD. Only about 20% of EBV+ donors induce EBV-LPD in 100% of engrafted mice (High-Incidence, HI), while another 20% of donors never generate EBV-LPD (No-Incidence, NI). Here, we report HI donors to have significantly higher basal T follicular helper (Tfh) and regulatory T-cells (Treg), and depletion of these subsets prevents/delays EBV-LPD. Transcriptomic analysis of CD4+ T cells from ex vivo HI donor PBMC revealed amplified cytokine and inflammatory gene signatures. HI vs. NI donors showed a marked reduction in IFNγ production to EBV latent and lytic antigen stimulation. In addition, we observed abundant myeloid-derived suppressor cells in HI donor PBMC that decreased CTL proliferation in co-cultures with autologous EBV+ lymphoblasts. Our findings identify potential biomarkers that may identify individuals at risk for EBV-LPD and suggest possible strategies for prevention. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Role of pH in Regulating Cancer Pyrimidine Synthesis

Author

Alqahtani, Saad Saeed, primary, Koltai, Tomas, additional, Ibrahim, Muntaser E., additional, Bashir, Adil H. H., additional, Alhoufie, Sari T. S., additional, Ahmed, Samrein B. M., additional, Molfetta, Daria Di, additional, Carvalho, Tiago M. A., additional, Cardone, Rosa Angela, additional, Reshkin, Stephan Joel, additional, Hifny, Abdelhameed, additional, Ahmed, Mohamed E., additional, and Alfarouk, Khalid Omer, additional

Published
2022
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17. Establishment of regional genomic surveillance networks in lower and lower-middle income countries

Author

Aziz, Ramy Karam, primary, Giri, Basant, additional, GUZMÁN, Maria G., additional, Jiang, Huan, additional, Abbès, Samir, additional, Figueiredo, Cláudia Pinto, additional, IBRAHIM, Muntaser E., additional, Kayitesi, Eugénie, additional, Ojokoh, Bolanle, additional, Qadri, Firdausi, additional, Titanji, Vincent P.K., additional, Gao, George F., additional, Yang, Huanming, additional, and Majumder, Partha, additional

Published
2022
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21. Genetic and Functional Evidence Implicating "DLL1" as the Gene That Influences Susceptibility to Visceral Leishmaniasis at Chromosome 6q27

Author

Fakiola, Michaela, Miller, E. Nancy, Fadl, Manal, Mohamed, Hiba S., Jamieson, Sarra E., Francis, Richard W., Cordell, Heather J., Peacock, Christopher S., Raju, Madhuri, Khalil, Eltahir A., Elhassan, Ahmed, Musa, Ahmed M., Silveira, Fernando, Shaw, Jeffrey J., Sundar, Shyam, Jeronimo, Selma M. B., Ibrahim, Muntaser E., and Blackwell, Jenefer M.

Published
2011
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23. Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

Author

Yahia, Ashraf, primary, Elsayed, Liena E. O., additional, Valter, Remi, additional, Hamed, Ahlam A. A., additional, Mohammed, Inaam N., additional, Elseed, Maha A., additional, Salih, Mustafa A., additional, Esteves, Typhaine, additional, Auger, Nicolas, additional, Abubaker, Rayan, additional, Koko, Mahmoud, additional, Abozar, Fatima, additional, Malik, Hiba, additional, Adil, Rawaa, additional, Emad, Sara, additional, Musallam, Mhammed Alhassan, additional, Idris, Razaz, additional, Eltazi, Isra Z. M., additional, Babai, Arwa, additional, Ahmed, Elhami A. A., additional, Abd Allah, Amal S. I., additional, Mairey, Mathilde, additional, Ahmed, Ahmed K. M. A., additional, Elbashir, Mustafa I., additional, Brice, Alexis, additional, Ibrahim, Muntaser E., additional, Ahmed, Ammar E., additional, Lamari, Foudil, additional, and Stevanin, Giovanni, additional

Published
2021
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25. Pathogenesis and Management of COVID-19

Author

Alfarouk, Khalid O., primary, AlHoufie, Sari T. S., additional, Ahmed, Samrein B. M., additional, Shabana, Mona, additional, Ahmed, Ahmed, additional, Alqahtani, Saad S., additional, Alqahtani, Ali S., additional, Alqahtani, Ali M., additional, Ramadan, AbdelRahman M., additional, Ahmed, Mohamed E., additional, Ali, Heyam S., additional, Bashir, Adil, additional, Devesa, Jesus, additional, Cardone, Rosa A., additional, Ibrahim, Muntaser E., additional, Schwartz, Laurent, additional, and Reshkin, Stephan J., additional

Published
2021
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30. Of mitochondrion and COVID-19

Author

Alfarouk, Khalid Omer, primary, Alhoufie, Sari T. S., additional, Hifny, Abdelhameed, additional, Schwartz, Laurent, additional, Alqahtani, Ali S., additional, Ahmed, Samrein B. M., additional, Alqahtani, Ali M., additional, Alqahtani, Saad S., additional, Muddathir, Abdel Khalig, additional, Ali, Heyam, additional, Bashir, Adil H. H., additional, Ibrahim, Muntaser E., additional, Greco, Maria Raffaella, additional, Cardone, Rosa A., additional, Harguindey, Salvador, additional, and Reshkin, Stephan Joel, additional

Published
2021
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31. Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history

Author

Hassan, Hisham Y., Underhill, Peter A., Cavalli-Sforza, Luca L., and Ibrahim, Muntaser E.

Subjects
Genetic research -- Analysis, Geography -- Analysis, Anthropology/archeology/folklore
Abstract

We study the major levels of Y-chromosome haplogroup variation in 15 Sudanese populations by typing major Y-haplogroups in 445 unrelated males representing the three linguistic families in Sudan. Our analysis shows Sudanese populations fall into haplogroups A, B, E, F, I, J, K, and R in frequencies of 16.9, 7.9, 34.4, 3.1, 1.3, 22.5, 0.9, and 13% respectively. Haplogroups A, B, and E occur mainly in Nilo-Saharan speaking groups including Nilotics, Fur, Borgu, and Masalit; whereas haplogroups F, I, J, K, and R are more frequent among Afro-Asiatic speaking groups including Arabs, Beja, Copts, and Hausa, and Niger-Congo speakers from the Fulani ethnic group. Mantel tests reveal a strong correlation between genetic and linguistic structures (r = 0.31, P = 0.007), and a similar correlation between genetic and geographic distances (r = 0.29, P = 0.025) that appears after removing nomadic pastoralists of no known geographic locality from the analysis. The bulk of genetic diversity appears to be a consequence of recent migrations and demographic events mainly from Asia and Europe, evident in a higher migration rate for speakers of Afro-Asiatic as compared with the Nilo-Saharan family of languages, and a generally higher effective population size for the former. The data provide insights not only into the history of the Nile Valley, but also in part to the history of Africa and the area of the Sahel. KEY WORDS Sudan; Nile Valley; Y-chromosome; haplogroups

Published
2008

33. Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Author

Elsayed, Liena E. O., primary, Mohammed, Inaam N., additional, Hamed, Ahlam A. A., additional, Elseed, Maha A., additional, Salih, Mustafa A. M., additional, Yahia, Ashraf, additional, Abubaker, Rayan, additional, Koko, Mahmoud, additional, Abd Allah, Amal S. I., additional, Elbashir, Mustafa I., additional, Ibrahim, Muntaser E., additional, Brice, Alexis, additional, Ahmed, Ammar E., additional, and Stevanin, Giovanni, additional

Published
2020
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34. The Pentose Phosphate Pathway Dynamics in Cancer and Its Dependency on Intracellular pH

Author

Alfarouk, Khalid O., primary, Ahmed, Samrein B. M., additional, Elliott, Robert L., additional, Benoit, Amanda, additional, Alqahtani, Saad S., additional, Ibrahim, Muntaser E., additional, Bashir, Adil H. H., additional, Alhoufie, Sari T. S., additional, Elhassan, Gamal O., additional, Wales, Christian C., additional, Schwartz, Laurent H., additional, Ali, Heyam S., additional, Ahmed, Ahmed, additional, Forde, Patrick F., additional, Devesa, Jesus, additional, Cardone, Rosa A., additional, Fais, Stefano, additional, Harguindey, Salvador, additional, and Reshkin, Stephan J., additional

Published
2020
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37. The Interplay of Dysregulated pH and Electrolyte Imbalance in Cancer

Author

Alfarouk, Khalid O., primary, Ahmed, Samrein B. M., additional, Ahmed, Ahmed, additional, Elliott, Robert L., additional, Ibrahim, Muntaser E., additional, Ali, Heyam S., additional, Wales, Christian C., additional, Nourwali, Ibrahim, additional, Aljarbou, Ahmed N., additional, Bashir, Adil H. H., additional, Alhoufie, Sari T. S., additional, Alqahtani, Saad Saeed, additional, Cardone, Rosa A., additional, Fais, Stefano, additional, Harguindey, Salvador, additional, and Reshkin, Stephan J., additional

Published
2020
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41. The Possible Role of Helicobacter pylori in Gastric Cancer and Its Management

Author

Alfarouk, Khalid O., primary, Bashir, Adil H. H., additional, Aljarbou, Ahmed N., additional, Ramadan, AbdelRahman M., additional, Muddathir, Abdel Khalig, additional, AlHoufie, Sari T. S., additional, Hifny, Abdelhamid, additional, Elhassan, Gamal O., additional, Ibrahim, Muntaser E., additional, Alqahtani, Saad S., additional, AlSharari, Shakir D., additional, Supuran, Claudiu T., additional, Rauch, Cyril, additional, Cardone, Rosa Angela, additional, Reshkin, Stephan J., additional, Fais, Stefano, additional, and Harguindey, Salvador, additional

Published
2019
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42. EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways

Author

Abdallah, Mohammad O. E., primary, Algizouli, Ubai K., additional, Suliman, Maram A., additional, Abdulrahman, Rawya A., additional, Koko, Mahmoud, additional, Fessahaye, Ghimja, additional, Shakir, Jamal H., additional, Fahal, Ahmed H., additional, Elhassan, Ahmed M., additional, Ibrahim, Muntaser E., additional, and Mohamed, Hiba S., additional

Published
2018
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43. Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring

Author

Rockett Kirk A, Mohamed Hiba S, Elzein Abier M, Hussein Aymen A, Eid Nahid A, Kwiatkowski Dominic P, and Ibrahim Muntaser E

Subjects
Arctic medicine. Tropical medicine, RC955-962, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Populations of East Africa including Sudan, exhibit some of the highest indices of genetic diversity in the continent and worldwide. The current study aims to address the possible impact of population structure and population stratification on the outcome of case-control association-analysis of malaria candidate-genes in different Sudanese populations, where the pronounced genetic heterogeneity becomes a source of concern for the potential effect on the studies outcome. Methods A total of 72 SNPs were genotyped using the Sequenom® iPLEX Gold assay in 449 DNA samples that included; cases and controls from two village populations, malaria patients and out-patients from the area of Sinnar and additional controls consisting of healthy Nilo-Saharan speaking individuals. The population substructure was estimated using the Structure 2.2 programme. Results & Discussion The Hardy-Weinberg Equilibrium values were generally within expectation in Hausa and Massalit. However, in the Sinnar area there was a notable excess of homozygosity, which was attributed to the Whalund effect arising from population amalgamation within the sample. The programme STRUCTURE revealed a division of both Hausa and Massalit into two substructures with the partition in Hausa more pronounced than in Massalit; In Sinnar there was no defined substructure. More than 25 of the 72 SNPs assayed were informative in all areas. Some important SNPs were not differentially distributed between malaria cases and controls, including SNPs in CD36 and NOS2. A number of SNPs showed significant p-values for differences in distribution of genotypes between cases and controls including: rs1805015 (in IL4R1) (P = 0.001), rs17047661 (in CR1) (P = 0.02) and rs1800750 (TNF-376)(P = 0.01) in the hospital samples; rs1050828 (G6PD+202) (P = 0.02) and rs1800896 (IL10-1082) (P = 0.04) in Massalit and rs2243250 (IL4-589) (P = 0.04) in Hausa. Conclusions The difference in population structure partly accounts for some of these significant associations, and the strength of association proved to be sensitive to all levels of sub-structuring whether in the hospital or population-based study.

Published
2010
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44. Loss of balancing selection in the βS globin locus

Author

Ishag Hani B, Khalil Eltahir AG, Elhassan Ibrahim M, Elzein Abeir M, Almugtaba Ibrahim A, Hussain Ayman A, Salih Niven A, Mohammed Hiba S, Kwiatkowski Dominic, and Ibrahim Muntaser E

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Probably the best example of the rise and maintenance of balancing selection as an evolutionary trend is the role of S-haemoglobin (HbS - rs334) in protecting from malaria. Yet, the dynamics of such a process remains poorly understood, particularly in relation to different malaria transmission rates and the genetic background of the affected populations. Methods We investigated the association of haemoglobin HbS in protection from clinical episodes of malaria in two populations/villages where malaria is endemic, but mostly presenting in mild clinical forms. Five-hundred and forty-six individuals comprising 65 and 82 families from the Hausa and Massalit villages respectively were genotyped for HbS. Allele and genotype frequencies as well as departure from Hardy-Weinberg Equilibrium were estimated from four-hundred and seventy independent genotypes across different age groups. Age-group frequencies were used to calculate the coefficient-of-fitness and to simulate the expected frequencies in future generations. Results Genotype frequencies were within Hardy-Weinberg expectations in Hausa and Massalit in the total sample set but not within the different age groups. There was a trend for a decrease of the HbS allele frequency in Hausa and an increase of frequency in Massalit. Although the HbS allele was able to confer significant protection from the clinical episodes of malaria in the two populations, as suggested by the odds ratios, the overall relative fitness of the HbS allele seems to have declined in Hausa. Conclusions Such loss of balancing selection could be due to a combined effect of preponderance of non-clinical malaria in Hausa, and the deleterious effect of the homozygous HbS under circumstances of endogamy.

Published
2010
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45. Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

Author

Suleiman, Suleiman H, Koko, Mahmoud E, Nasir, Wafaa H, Elfateh, Ommnyiah, Elgizouli, Ubai K, Abdallah, Mohammed O. E, Alfarouk, Khalid O, Hussain, Ayman, Faisal, Shima, Ibrahim, Fathelrahamn M. A, Sultan, Ali, Banks, Lawrence, Newport, Melanie, Baralle, Francesco, Elhassan, Ahmed M, Mohamed, Hiba S, Ibrahim, Muntaser E., ROMANO, MAURIZIO, Suleiman, Suleiman H, Koko, Mahmoud E, Nasir, Wafaa H, Elfateh, Ommnyiah, Elgizouli, Ubai K, Abdallah, Mohammed O. E, Alfarouk, Khalid O, Hussain, Ayman, Faisal, Shima, Ibrahim, Fathelrahamn M. A, Romano, Maurizio, Sultan, Ali, Banks, Lawrence, Newport, Melanie, Baralle, Francesco, Elhassan, Ahmed M, Mohamed, Hiba S, and Ibrahim, Muntaser E.

Subjects
lcsh:QH426-470, colorectal cancer, NFkB, pathway analysis, lcsh:Genetics, ELAVL1/HuR, exome sequencing, network analysis, Genetics, network analysi, Molecular Medicine, Genetics (clinical), Original Research
Abstract

The molecular basis of cancer and cancer multiple phenotypes are not yet fully understood. Next Generation Sequencing promises new insight into the role of genetic interactions in shaping the complexity of cancer. Aiming to outline the differences in mutation patterns between familial colorectal cancer cases and controls we analyzed whole exomes of cancer tissues and control samples from an extended colorectal cancer pedigree, providing one of the first data sets of exome sequencing of cancer in an African population against a background of large effective size typically with excess of variants. Tumors showed hMSH2 loss of function SNV consistent with Lynch syndrome. Sets of genes harboring insertions-deletions in tumor tissues revealed, however, significant GO enrichment, a feature that was not seen in control samples, suggesting that ordered insertions-deletions are central to tumorigenesis in this type of cancer. Network analysis identified multiple hub genes of centrality. ELAVL1/HuR showed remarkable centrality, interacting specially with genes harboring non-synonymous SNVs thus reinforcing the proposition of targeted mutagenesis in cancer pathways. A likely explanation to such mutation pattern is DNA/RNA editing, suggested here by nucleotide transition-to-transversion ratio that significantly departed from expected values (p-value 5e-6). NFKB1 also showed significant centrality along with ELAVL1, raising the suspicion of viral etiology given the known interaction between oncogenic viruses and these proteins.

Published
2015

50. Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Author

Elsayed, Liena E O, primary, Mohammed, Inaam N, additional, Hamed, Ahlam A A, additional, Elseed, Maha A, additional, Johnson, Adam, additional, Mairey, Mathilde, additional, Mohamed, Hassab Elrasoul S A, additional, Idris, Mohamed N, additional, Salih, Mustafa A M, additional, El-sadig, Sarah M, additional, Koko, Mahmoud E, additional, Mohamed, Ashraf Y O, additional, Raymond, Laure, additional, Coutelier, Marie, additional, Darios, Frédéric, additional, Siddig, Rayan A, additional, Ahmed, Ahmed K M A, additional, Babai, Arwa M A, additional, Malik, Hiba M O, additional, Omer, Zulfa M B M, additional, Mohamed, Eman O E, additional, Eltahir, Hanan B, additional, Magboul, Nasr Aldin A, additional, Bushara, Elfatih E, additional, Elnour, Abdelrahman, additional, Rahim, Salah M Abdel, additional, Alattaya, Abdelmoneim, additional, Elbashir, Mustafa I, additional, Ibrahim, Muntaser E, additional, Durr, Alexandra, additional, Audhya, Anjon, additional, Brice, Alexis, additional, Ahmed, Ammar E, additional, and Stevanin, Giovanni, additional

Published
2016
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