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Staff Profile - Jamal Nasir

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Jamal Nasir is an Associate Professor in Human Genetics & Genomics

Journal Reviewer
  • Nature genetics
  • New Eng J Med
  • Scientific Reports
  • Genomics
  • Frontiers in Genetics
Grant Reviewer
  • MRC
  • NIHR
  • Ataxia (UK Charity)
  • Action Research (UK)
  • Muscular Dystrophy Group (UK)
  • The Wellcome Trust (UK)
  • Sir Henry Wellcome Postdoctoral Fellowships;
  • National Institute for Social Care and Health Research (NISCHR)
  • Welsh Assembly Government
  • Genetics and Molecular Biology – SLS1020
  • Genes and Genomics – SLS2001
  • Integrated Medical Genetics – SLS3002
  • Genetics of host resistance to COVID-19 and infectious diseases.
  • Disease gene identification for Mendelian disorders in consanguineous families.
  • Computational approaches for investigating complex genetic diseases.
  • 5.  Y.P. Goldberg, J.M. Rommens, S.E. Andrew, G.B. Hutchinson, B. Lin, J. Theilmann, R. Graham, M. L. Graves, E. Starr, H. McDonald, J. Nasir, K. Schappert, M Kaltchman, L. Clarke and M.R. Hayden (1993).  Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington’s disease. Nature 362, 370-373.
  • 13.  J. Nasir, S.B. Floresco, J.R. O’Kusky, V.M. Diewert, J.M. Richman, J. Zeisler, A. Borowski, J.D. Marth, A.G. Phillips and M.R. Hayden (1995). Targeted disruption of the Huntington’s disease gene results in embryonic lethality and behavioural and morphological changes in heterozygotes. Cell 81, 811-823.
  • 24. Hodgson, J. G., Agopyan, N., Gutekunst, C-A., Leavitt, B.R., LePiane, F., Singaraja, R., Smith, D.J., Bissada, N., McCutcheon, K., Nasir, J., Jamot, L., Li, X-J., Stevens, M.E., Rosemond, E., Roder, J.C., Phillips, A.G., Rubin, E.M., Hersch, S.M. and Hayden, M.R. (1999) A YAC Mouse Model for Huntington’s Disease with Full-Length Mutant Huntingtin, Cytoplasmic Toxicity, and Selective Striatal Neurodegeneration. Neuron 23, 181-192.
  • 28. Hadano, S., Hand, C.K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R.S.,  Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, S., Figlewicz, D.A., Kwiatkowski, T., Hosler, B.A., Sagie, T., Skaug, J., Nasir, J., Brown, R.H., Scherer, S.W., Rouleau, G.A., Hayden, M.R. and Ikeda, Joh-E. (2001) A gene encoding a novel GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.  Nature genetics 29, 166-173.
  • 33. Xinsheng Nan, Jianghui Hou, Alan Maclean, Jamal Nasir, Maria
  • Jose Lafuente, Xinhua Shu, Skirmantas Kriaucionis and Adrian Bird (2007)
  • Interaction between chromatin proteins MeCP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc. Natl. Acad. Sci. USA 104(8) 2709-14.
  • 41. Nicholl Pakes, Douwe M Veltman, Francisco Rivero, Jamal Nasir, Robert Insall, and Robin SB Williams (2012). ZizB, a novel RacGEF regulates development, cell motility and cytokinesis in Dictyostelium. Journal of Cell Science.  125, 2457-2465.
  • 58. A mutation in the major autophagy gene, associated with global developmental abnormalities. Musharraf Jelani, Hannah C. Dooley, Andrea Gubas, Hussein Sheikh Ali Mohamoud, Muhammad Tariq Masood Khan, Zahir Ali, Changsoo Kang, Fazal Rahim, Amin Jan, Nirmal Vadgama, Muhammad Ismail Khan, Jumana Yousuf Al-Aama, Asifullah Khan, Sharon A. Tooze, Jamal Nasir. (2019) Brain 142; 5: 1242 -1254. (https://academic.oup.com/brain/article/142/5/1242/5433409).
  • 60. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease related genes. Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, De Rijk P, Rees E, Kirov G, Hughes D, Fitzgerald T, Kristiansen M, Pearce K, Cerveira E, Zhu Q, Zhang C, Lee C, Hardy J, Nasir J. (2019) European Journal of Human Genetics. https://rdcu.be/brFdM
  • 61. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a
  • neurodevelopmental syndrome and dysmorphic features. Mohamoud HS, Ahmed S, Jelani M, Alrayes N, Childs K, Vadgama N, Almramhi MM, Al-Aama JY, Goodbourn S, Nasir J. Scientific Reports 2018 Feb 1;8(1):2053. doi: 10.1038/s41598-018-20658-w https://www.ncbi.nlm.nih.gov/pubmed/29391579