Bashir, R - Durham University - School of Biological and Biomedical Science

研究领域

Cell biology of the ``ferlin'' protein family Genes involved in spastic paraplegia Molecular genetics Neuromuscular disorders

近期论文

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Defour, A., van der Meulen, J.H., Bhat, R., Bigot, A., Bashir, R., Nagaraju, K. & Jaiswal, J.K. (2014). Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. Cell Death and Disease 5(6): e1306. Sarkozy, A., Hicks, D., Hudson, J., Laval, S.H., Barresi, R., Hilton-Jones, D., Deschauer, M., Harris, E., Rufibach, L., Hwang, E., Bashir, R., Walter, M.C., Krause, S., van den Bergh, P., Illa, I., Pénisson-Besnier, I., De Waele, L., Turnbull, D., Guglieri, M., Schrank, B., Schoser, B., Seeger, J., Schreiber, H., Gl?ser, D., Eagle, M., Bailey, G., Walters, R., Longman, C., Norwood, F., Winer, J., Muntoni, F., Hanna, M., Roberts, M., Bindoff, L.A., Brierley, C., Cooper, R.G., Cottrell, D.A., Davies, N.P., Gibson, A., Gorman, G.S., Hammans, S., Jackson, A.P., Khan, A., Lane, R., McConville, J., McEntagart, M., Al-Memar, A., Nixon, J., Panicker, J., Parton, M., Petty, R., Price, C.J., Rakowicz, W., Ray, P., Schapira, A.H., Swingler, R., Turner, C., Wagner, K.R., Maddison, P., Shaw, P.J., Straub, V., Bushby, K. & Lochmüller, H. (2013). ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human Mutation 34(8): 1111-1118. Lostal, W., Bartoli, M., Roudaut, C., Bourg, N., Krahn, M., Pryadkina, M., Borel, P., Suel, L., Roche, J.A., Stockholm, D., Bloch, R.J., Levy, N., Bashir, R. & Richard, I. (2012). Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE 7(5): e38036. Mahjneh, I., Bashir, R., Kiuru-Enari, S., Linssen, W., Lamminen, A. & de Visser, M. (2012). Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. Neuromuscular Disorders 22(S2): 130-136. Mahjneh, I., Jaiswal, J., Lamminen, A., Somer, M., Marlow, G. , Kiuru-Enari, S. & Bashir, R. (2010). A new distal myopathy with mutation in anoctamin 5. Neuromuscular Disorders 20(12): 791-795. Howes MT, Kirkham M, Riches J, Cortese K, Walser PJ, Simpson F, Hill MM, Jones A, Lundmark R, Lindsay MR, Hernandez-Deviez DJ, Hadzic G, McCluskey A, Bashir R, , Liu L, Pilch P, McMahon H, Robinson PJ, Hancock JF, Mayor S, & Parton RG. (2010). Clathrin-independent carriers form a high capacity endocytic sorting system at the leading edge of migrating cells. Journal of Cell Biology 190(4): 675-691. Bolduc, V., Marlow, G., Boycott, K.M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F., Mizuta, K., Kamata, N., Richard, I., Linssen, W.H., Mahjneh, I., de Visser, M., Bashir, R. & Brais, B. (2010). Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal Human Genetics 86(2): 213-221. Jaiswal, J., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L.V.B., Richard, I., Kiuru-Enari, S., McNeil, P.L., Simon, S.S. & Bashir, R. (2007). Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect. Traffic 8(1): 77-88. Jaiswal, J., Miyake, K., Summerill, G., Mueller, S., Mahjneh, I., Baas, F., de Visser, M., McNeil, P. & Bashir, R. (2005). Defective membrane repair in non-dysferlin Miyoshi myopathy. Neuromuscular Disorders 15(9-10): 692-692. Haes, E, Richardson, C, Marlow, G, Bakir, H, Anderson, L, McNally, E & Bashir, R (2003). Altered expression of the ferlins following cell membrane injury inmuscle cells. Neuromuscular Disorders 13(7-8): 623-623. Harrison, R, Laval, S, Bashir, R & Bushby, K (2001). Characterisation of the dysferlin muscle promoter. Neuromuscular Disorders 11(6-7): 627-627. Vafiadaki, E, Reis, A, Keers, S, Harrison, R, Anderson, LVB, Raffelsberger, T, Ivanova, S, Hoger, H, Bittner, RE, Bushby, K & Bashir, R (2001). Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport 12(3): 625-629. Aoki, M, Liu, J, Richard, I, Bashir, R, Britton, S, Keers, SM, Oeltjen, J, Brown, HEV, Marchand, S, Bourg, N, Beley, C, McKenna-Yasek, D, Arahata, K, Bohlega, S, Cupler, E, Illa, I, Majneh, I, Barohn, RJ, Urtizberea, JA, Fardeau, M, Amato, A, Angelini, C, Bushby, K, Beckmann, JS & Brown, RH (2001). Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57(2): 271-278. Vafiadaki, E, Laval, S, Brown, J, Bashir, R & Bushby, K (2001). Identification of a novel muscle gene interacting with dysferlin. Neuromuscular Disorders 11(6-7): 652-652. Brockington, M., Yuva, Y., Prandini, P., Brown, S.C., Torelli, S., Benson, M.A., Herrmann, R., Anderson, L.V.B., Bashir, R., Burgunder, J.M., Fallet, S., Romero, N., Fardeau, M., Straub, V., Storey, G., Pollitt, C., Richard, I., Sewry, C.A., Bushby, K., Voit, T., Blake, D.J. & Muntoni, F. (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics 10(25): 2851-2859. White, KD, Ince, PG, Lusher, M, Lindsey, J, Cookson, M, Bashir, R, Shaw, PJ & Bushby, KMD (2000). Clinical and pathologic findings in hereditary spastic paraparesis withspastin mutation. Neurology 55(1): 89-94. Argov, Z, Sadeh, M, Mazor, K, Soffer, D, Kahana, E, Eisenberg, I, Mitrani-Rosenbaum, S, Richard, I, Beckmann, J, Keers, S, Bashir, R, Bushby, K & Rosenmann, H (2000). Muscular dystrophy due to dysferlin deficiency in Libyan Jews -Clinical and genetic features. Brain 123: 1229-1237. Lindsey, JC, Lusher, ME, McDermott, CJ, White, KD, Reid, E, Rubinsztein, DC, Bashir, R, Hazan, J, Shaw, PJ & Bushby, KMD (2000). Mutation analysis of the spastin gene (SPG4) in patients withhereditary spastic paraparesis. Journal Of Medical Genetics 37(10): 759-765. Anderson, LVB, Harrison, RM, Pogue, R, Vafiadaki, E, Pollitt, C, Davison, K, Moss, JA, Keers, S, Pyle, A, Shaw, PJ, Mahjneh, I, Argov, Z, Greenberg, CR, Wrogemann, K, Bertorini, T, Goebel, HH, Beckmann, JS, Bashir, R & Bushby, KMD (2000). Secondary reduction in calpain 3 expression in patients with limbgirdle muscular dystrophy type 2B and Miyoshi myopathy (primarydysferlinopathies). Neuromuscular Disorders 10(8): 553-559. Britton, S., Freeman, T., Vafiadaki, E., Keers, S., Harrison, R., Bushby, K. & Bashir, R. (2000). The third human FER-1-like protein is highly similar to dysferlin. Genomics 68(3): 313-321.