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Wolfson Research Institute for Health and Wellbeing

Wolfson Fellow

Dr R Bashir, BSc Hon Biochemistry, Phd.

Telephone: +44 (0) 191 33 41320
Fax: +44 191 334 1201
Room number: 2018

Contact Dr R Bashir (email at rumaisa.bashir@durham.ac.uk)

Biography

My area of research is Skeletal Muscle Biology and Muscular Dystrophy. My research is focussing on identifying the mechanisms involved in muscle membrane fusion processes. In skeletal muscle membrane fusion is involved in myoblast differentiation and membrane repair. In 1998 I was involved in the identification of the dysferlin gene, encoding a novel protein with a role in muscular dystrophy. My work showed that mutations in the dysferlin genes result in LGMD2B and Miyoshi Myopathy. We subsequenntly went on to characterise the muscle protein expression of dysferlin and identify a mouse model of dysferlinopathy. Dysferlin is a C2 domain protein sharing homology with a Caenorhabditis-elegans sperm vesicle fusion protein FER-1. Since the cloning of dysferlin further genes encoding dysferlin related proteins have been identified by my group and others. The ferlin protein family currently has 6 members although the cloning of only 2 additional ferlins ahs been reported.
We have identified several ferlin genes including myoferlin, FER1L4 and FER1L5. Dysferlin protein has been shown to be a component of the sarcolemmal repair machinery. Through sequence and homology modelling approaches we have identified functionally distinct ferlin subgroups. The dysferlin subgroup includes myoferlin and FER1L5. Our data on the expression of these proteins during myoblast fusion and cell membrane injury suggests a role for myoferlin and FER1L5 in sarcolemmal repair.
Very little is known about the cell biology of the ferlins and their role in muscle membrane fusion processes. Recently myoferlin has been shown to be involved in defects in myogenesis. Our work is focussed on examining the trafficking of the ferlin proteins in intact and injured muscle cells to determine the nature of their vesicles and if they display exocytotic properties. We are currently generating myoferlin deficient muscle cells using RNAi to test the role of this ferlin in membrane repair and myoblast fusion. For the novel FER1L5 similar approaches will also be used to examine its role in membrane fusion.
We also have anmother project that is emerging with speed. Since the cloning of dysferlin it soon became apparent that not all forms of miyoshi myopathy are linked to dysferlin mutations. We have subsequently collected >20 families with Miyoshi myopathy not linked to dysferlin mutations. At present we are the only group internationally working to identify the molecular basis of non-dysferlin MM. Our genetic studies are focussing on chromosome 10p in 2 families and in six large families suitable for haplotyping other loci as yet unidentified are involved. We are testing the candidacy of myoferlin and FER1L5 in the 10p unlinked families before moving to genome SNP typing to identify candidate loci. Through MDC funding we are also screening genes mapping to 10p for their involvement in non-dysferlin MM. This genetics based approach will allow us to identify proteins that function in the same pathway as dysferlin. This is because in patient cells with non-dysferlin MM we have performed membrane repair assays and identified defects in membrane repair like dysferlin deficient cells.

Collaborations : Paul McNeil (Augusta, USA), Jyoti Jaiswal (New York, USA) and Isabelle Richard (Genethon, France).
Clinical collaborators: Ibrahim Mahjneh (Finland), Marrianne de Visser (Netherlands), Frank Baas (Netherlands), Kate Bushby (UK).

My past research on dysferlin has been carried out with Prof. Kate Bushby (Institute of Human Genetics, University of Newcastle upon Tyne) and has been funded by the MRC (UK), Muscular Dystrophy Campaign and Action Research .
My current work on myoferlin and FER1L5 and non-dysferlin MM is funded by Muscular Dystrophy Campaign (MDC).

Teaching:
My area of teaching in Durham and Queens Campus is molecular genetics with an emphasis on the molecular basis of disease.
I teach in several courses acroos the two Campuses in Durham. At the Queens Campus I am involved in Biomedical Sciences and Preclinical Medicine. I am the module leader for the Metabolic Biochemistry/Molecular Genetics module in BIOmedical Sciences. In durham I teach in the Molecular Basis of Disease module. I have introduced several new topics in my teaching. In Biomedical Sciences we now cover bioinformatics related to biomedicine. These components are taught in all 3 years od Biomedical Sciences and are also essential for students project work in the final year.
I am also the Durham University representative for Medical Genetics Teaching in the UK.

Indicators of Esteem

  • 2006: Invited Member of the MRC Reviewing Panel on Experimental Medicine for the Physiological Systems and Clinical Sciences Board (PSCSB):
  • 2006: Invited Review for The Agency for Science, Technology and Research’s (A*STAR) Biomedical Research Council (BMRC) in Singap: Grant application "Proteomic Approaches to Delineate the Molecular Mechanism of Dysferlin-Mediated Cell Membrane Repair"
  • 2005: Chairperson of “Experimental Studies and Animal Models” session at World Muscle Society Meeting, Brazil, September 2005:
  • 2003: Platform presentation “Myoferlin and genetic disease” 4th International ENMC Workshop on limb-girdle muscular dystrophy, Naarden, Netherlands.:

Research Groups

School of Biological and Biomedical Sciences

Research Interests

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

Selected Publications

  • Britton S, Freeman TCF, Vafiadaki E, Keers S, Harrison R, Bushby KMD & Bashir R (2000). The third human FER-1-like protein is highly similar to dysferlin. Genomics 68(3)(313-321).
  • Bittner RE, Anderson LVB, Burkhardt E, Bashir R, Vafiadaki E, Maerk I, Ivanova S, Hoger H, Storch M, Lassmann H, Moss JA, Davison K, Bushby KMD & Reis A (1999). Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb-girdle muscular dystrophy type 2B. Nature Genet 23(141-142).
  • Weiler T, Bashir R, Anderson LVB, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby KMD & Wrogemann K (1999). Identical mutations in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Mol. Genet 8(5)(871-879).
  • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno R, Moreira E, Zatz M, Beckmann J & Bushby K (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genet 20(37-42).

Articles: magazine

Journal papers: academic

  • 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 KM, Saleki K, , Inoue H, Kroon J, , Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, 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, 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, SC, Torelli, S, Benson, MA, Herrmann, R, Anderson, LVB, Bashir, R, Burgunder, JM, Fallet, S, Romero, N, Fardeau, M, Straub, V, Storey, G, Pollitt, C, Richard, I, Sewry, CA, Bushby, K, Voit, T, Blake, DJ & 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.
  • Bittner, RE, Anderson, LVB, Burkhardt, E, Bashir, R, Vafiadaki, E, Ivanova, S, Raffelsberger, T, Maerk, I, Hoger, H, Jung, M, Karbasiyan, M, Storch, M, Lassmann, H, Moss, JA, Davison, K, Harrison, R, Bushby, KMD & Reis, A (1999). Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model forlimb girdle muscular dystrophy 2B. Nature Genetics 23(2): 141-142.
  • Anderson, LVB, Davison, K, Moss, JA, Young, C, Cullen, MJ, Walsh, J, Johnson, MA, Bashir, R, Britton, S, Keers, S, Argov, Z, Mahjneh, I, Fougerousse, F, Beckmann, JS & Bushby, KMD (1999). Dysferlin is a plasma membrane protein and is expressed early in humandevelopment. Human Molecular Genetics 8(5): 855-861.
  • Weiler, T, Bashir, R, Anderson, LVB, Davison, K, Moss, JA, Britton, S, Nylen, E, Keers, S, Vafiadaki, E, Greenberg, CR, Bushby, KMD & Wrogemann, K (1999). Identical mutation in patients with limb girdle muscular dystrophy type2B or Miyoshi myopathy suggests a role for modifier gene(s). Human Molecular Genetics 8(5): 871-877.
  • Wrogemann, K, Nylen, E, Weiler, T, Singal, R, Greenberg, CR, Ivanova-Smolenskaya, IA, Sukhorukov, VS, Bashir, R, Bushby, K & Illarioshkin, SN (1999). Identical mutation in the dysferlin gene can cause either a limb girdlemuscular dystrophy Type 2B or a Miyoshi myopathy phenotype. American Journal Of Human Genetics 65(4): A504-A504.
  • Mahjneh, I, Bushby, K, Anderson, L, Muntoni, F, Tolvanen-Mahjneh, H, Bashir, R, Pizzi, A, Brockington, M & Marconi, G (1999). Merosin-positive congenital muscular dystrophy: A large inbred family. Neuropediatrics 30(1): 22-28.
  • Bittner, RE, Anderson, LVB, Burkhardt, E, Bashir, R, Vafiadaki, E, Ivanova, S, Maerk, I, Hoeger, H, Jung, M, Storch, M, Lassmann, H, Moss, JA, Davison, K, Harrison, R, Bushby, KMD & Reis, A (1999). Redesignation of the SJL mouse (SJL-dysf) as a model for humandysferlin-deficient muscle disorders. American Journal Of Human Genetics 65(4): A33-A33.
  • Bashir, R, Britton, S, Strachan, T, Keers, S, Vafiadaki, E, Lako, M, Richard, I, Marchand, S, Bourg, N, Argov, Z, Sadeh, M, Mahjneh, I, Marconi, G, Passos-Bueno, MR, Moreira, ED, Zatz, M, Beckmann, JS & Bushby, K (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics 20(1): 37-42.
  • Jang, WH, Weber, JS, Bashir, R, Bushby, K & Meisler, MH (1996). Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13. Genomics 36(2): 366-368.
  • Bashir, R, Keers, S, Strachan, T, PassosBueno, R, Zatz, M, Weissenbach, J, LePaslier, D, Meisler, M & Bushby, K (1996). Genetic and physical mapping at the limb-girdle muscular dystrophylocus (LCMD2B) on chromosome 2p. Genomics 33(1): 46-52.
  • Mahjneh, I, Bushby, K, Pizzi, A, Bashir, R & Marconi, G (1996). Limb-girdle muscular dystrophy: A follow-up study of 79 patients. Acta Neurologica Scandinavica 94(3): 177-189.
  • PassosBueno, MR, Moreira, ES, Marie, SK, Bashir, R, Vasquez, L, Love, DR, Vainzof, M, Iughetti, P, Oliveira, JR, Bakker, E, Strachan, T, Bushby, K & Zatz, M (1996). Main clinical features of the three mapped autosomal recessivelimb-girdle muscular dystrophies and estimated proportion of each formin 13 Brazilian families. Journal Of Medical Genetics 33(2): 97-102.
  • Bashir, R, Britto, S, Britton, S, Keers, S, Meisler, M, DelMaestro, R, Lovett, M, Zatg, M, PassosBueno, R, Strachan, T & Bushby, K (1996). Mapping at the LGMD2B locus on chromosome 2p13. Cytogenetics And Cell Genetics 73(4): 2-2.
  • Bushby, K, Bashir, R, Keers, S, Britton, S, Zatz, M, PassosBueno, MR, Lovett, M, Mahjneh, I, Marconi, G & Strachan, T (1996). The molecular biology of LGMD2B - Towards the identification of theLGMD gene on chromosome 2p13. Neuromuscular Disorders 6(6): 491-492.
  • PASSOSBUENO, MR, BASHIR, R, MOREIRA, ES, VAINZOF, M, MARIE, SK, VASQUEZ, L, IUGHETTI, P, BAKKER, E, KEERS, S, STEPHENSON, A, STRACHAN, T, MAHNEH, I, WEISSENBACH, J, BUSHBY, K & ZATZ, M (1995). CONFIRMATION OF THE 2P LOCUS FOR THE MILD AUTOSOMAL RECESSIVELIMB-GIRDLE MUSCULAR-DYSTROPHY GENE (LGMD2B) IN 3 FAMILIES ALLOWSREFINEMENT OF THE CANDIDATE REGION. Genomics 27(1): 192-195.
  • BASHIR, R, STRACHAN, T, KEERS, S, ZATZ, M, PASSOSBUENO, R, WEISSENBACH, J, LEPASLIER, D, MEISLER, M & BUSHBY, K (1995). PHYSICAL AND GENETIC-MAPPING AT THE LIMB-GIRDLE MUSCULAR-DYSTROPHYLOCUS ON CHROMOSOME 2P13 (LGMD2B). American Journal Of Human Genetics 57(4): 1194-1194.
  • BASHIR, R, STRACHAN, T, KEERS, S, STEPHENSON, A, MAHJNEH, I, MARCONI, G, NASHEF, L & BUSHBY, KMD (1994). A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P. Human Molecular Genetics 3(3): 455-457.
  • CARTER, SA, BRYCE, SD, MUNRO, CS, HEALY, E, BASHIR, R, WEISSENBACH, J, LEBLANCSTRACESKI, J, KUCHERLAPATI, R, STEPHENSON, A, REES, JL & STRACHAN, T (1994). LINKAGE ANALYSES IN BRITISH PEDIGREES SUGGEST A SINGLE-LOCUS FOR DARIERDISEASE AND NARROW THE LOCATION TO THE INTERVAL BETWEEN D12S105 ANDD12S129. Genomics 24(2): 378-382.
  • STRACHAN, T, MUNRO, CS, CARTER, S, MASON, S, STEVENSON, A, BASHIR, R, BRYCE, S, HEALY, E & REES, JL (1994). MORE PRECISE LOCALIZATION OF THE DARIERS-DISEASE GENE ON CHROMOSOME 12Q. Journal Of Investigative Dermatology 102(4): 540-540.
  • BASHIR, R, STRACHAN, T, PASSOSBUENO, MR, CROSS, I, KEERS, S, ZATZ, M, MEISLER, M & BUSHBY, K (1994). PHYSICAL MAPPING OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY REGION 2P13 NEARTHE MND2 MUTATION IN MICE. Cytogenetics And Cell Genetics 67(4): 238-238.
  • SPURR, NK, BARTON, H, BASHIR, R, BRYSON, GM, BUSHBY, K, COX, S, GRINGRICH, JC, HENTATI, A, HILDEBRANDT, F, KAO, FT, KRUSE, T, LAI, E, LIU, J, MENKE, M, NAYLOR, S, NICKLIN, M, READ, A, REINER, O, ROCCHI, M & SUMMAR, M (1994). REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-2 MAPPING1994. Cytogenetics And Cell Genetics 67(4): 216-237.
  • INGLEHEARN, CF, CARTER, SA, KEEN, TJ, LINDSEY, J, STEPHENSON, CM, BASHIR, R, ALMAGHTHEH, M, MOORE, AT, JAY, M, BIRD, AC & BHATTACHARYA, SS (1993). A NEW LOCUS FOR AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P. Investigative Ophthalmology & Visual Science 34(4): 1150-1150.
  • INGLEHEARN, CF, CARTER, SA, KEEN, TJ, LINDSEY, J, STEPHENSON, AM, BASHIR, R, ALMAGHTHEH, M, MOORE, AT, JAY, M, BIRD, AC & BHATTACHARYA, SS (1993). A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P. Nature Genetics 4(1): 51-53.
  • BASHIR, R, MUNRO, CS, MASON, S, STEPHENSON, A, REES, JL & STRACHAN, T (1993). LOCALIZATION OF A GENE FOR DARIERS-DISEASE. Human Molecular Genetics 2(11): 1937-1939.
  • BASHIR, R, INGLEHEARN, CF, KEEN, TJ, LINDSEY, J, ATIF, U, CARTER, SA, STEPHENSON, AM, JACKSON, A, JAY, M, BIRD, AC, PAPIHA, SS & BHATTACHARYA, SS (1992). EXCLUSION OF CHROMOSOME-6 AND CHROMOSOME-8 LOCATIONS IN NONRHODOPSINAUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA FAMILIES - FURTHER LOCUSHETEROGENEITY IN ADRP. Genomics 14(1): 191-193.
  • BASHIR, R, DAY, CP, JAMES, OFW, OGILVIE, DJ, SYKES, B & BASSENDINE, MF (1992). NO EVIDENCE FOR INVOLVEMENT OF TYPE-1 COLLAGEN STRUCTURAL GENES INGENETIC PREDISPOSITION TO ALCOHOLIC CIRRHOSIS. Journal Of Hepatology 16(3): 316-319.
  • INGLEHEARN, CF, LESTER, DH, BASHIR, R, ATIF, U, KEEN, TJ, SERTEDAKI, A, LINDSEY, J, JAY, M, BIRD, AC, FARRAR, GJ, HUMPHRIES, P & BHATTACHARYA, SS (1992). RECOMBINATION BETWEEN RHODOPSIN AND LOCUS D3S47 (C17) IN RHODOPSINRETINITIS-PIGMENTOSA FAMILIES. American Journal Of Human Genetics 50(3): 590-597.
  • INGLEHEARN, CF, BASHIR, R, LESTER, DH, JAY, M, BIRD, AC & BHATTACHARYA, SS (1991). A 3-BP DELETION IN THE RHODOPSIN GENE IN A FAMILY WITH AUTOSOMALDOMINANT RETINITIS-PIGMENTOSA. American Journal Of Human Genetics 48(1): 26-30.
  • KEEN, TJ, INGLEHEARN, CF, LESTER, DH, BASHIR, R, JAY, M, BIRD, AC, JAY, B & BHATTACHARYA, SS (1991). AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - 4 NEW MUTATIONS IN RHODOPSIN,ONE OF THEM IN THE RETINAL ATTACHMENT SITE. Genomics 11(1): 199-205.
  • BHATTACHARYA, SS, INGLEHEARN, CF, KEEN, J, LESTER, D, BASHIR, R, JAY, M & BIRD, AC (1991). IDENTIFICATION OF NOVEL RHODOPSIN MUTATIONS IN PATIENTS WITH AUTOSOMALDOMINANT RETINITIS-PIGMENTOSA. Investigative Ophthalmology & Visual Science 32(4): 890-890.
  • DAY, CP, BASHIR, R, JAMES, OFW, BASSENDINE, MF, CRABB, DW, THOMASSON, HR, LI, TK & EDENBERG, HJ (1991). INVESTIGATION OF THE ROLE OF POLYMORPHISMS AT THE ALCOHOL AND ALDEHYDEDEHYDROGENASE LOCI IN GENETIC PREDISPOSITION TO ALCOHOL-RELATEDEND-ORGAN DAMAGE. Hepatology 14(5): 798-801.
  • BHATTACHARYA, S, LESTER, D, KEEN, J, BASHIR, R, LAUFFART, B, INGLEHEARN, CF, JAY, M & BIRD, AC (1991). RETINITIS-PIGMENTOSA AND MUTATIONS IN RHODOPSIN. Lancet 337(8734): 185-185.
  • INGLEHEARN, CF, KEEN, TJ, LESTER, DH, BASHIR, R, JAY, M, BIRD, AC & BHATTACHARYA, SS (1991). RHODOPSIN MUTATIONS AND PHENOTYPE IN AUTOSOMAL DOMINANTRETINITIS-PIGMENTOSA. Cytogenetics And Cell Genetics 58(3-4): 1878-1879.
  • FARRAR, GJ, KENNA, P, REDMOND, R, MCWILLIAM, P, BRADLEY, DG, HUMPHRIES, MM, SHARP, EM, INGLEHEARN, CF, BASHIR, R, JAY, M, WATTY, A, LUDWIG, M, SCHINZEL, A, SAMANNS, C, GAL, A, BHATTACHARYA, S & HUMPHRIES, P (1990). AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - ABSENCE OF THE RHODOPSINPROLINE-]HISTIDINE SUBSTITUTION (CODON 23) IN PEDIGREES FROM EUROPE. American Journal Of Human Genetics 47(6): 941-945.
  • LESTER, DH, BASHIR, R, JAY, M, BIRD, AC, WRIGHT, AF, INGLEHEARN, CF & BHATTACHARYA, SS (1990). AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - EVIDENCE FOR AT LEAST 2GENETIC-LOCI. Journal Of Medical Genetics 27(10): 647-647.
  • DAY, CP, BASHIR, R, SYKES, B, CRABBE, D, LI, TK, EDENBERG, HJ, JAMES, OFW & BASSENDINE, MF (1990). INVESTIGATION OF THE ROLE OF 5 CANDIDATE GENES IN GENETICSUSCEPTIBILITY TO ALCOHOLIC CIRRHOSIS. Hepatology 12(4): 923-923.
  • LESTER, DH, INGLEHEARN, CF, BASHIR, R, ACKFORD, H, ESAKOWITZ, L, JAY, M, BIRD, AC, WRIGHT, AF, PAPIHA, SS & BHATTACHARYA, SS (1990). LINKAGE TO D3S47 (C17) IN ONE LARGE AUTOSOMAL DOMINANTRETINITIS-PIGMENTOSA FAMILY AND EXCLUSION IN ANOTHER - CONFIRMATION OFGENETIC-HETEROGENEITY. American Journal Of Human Genetics 47(3): 536-541.
  • DAY, CP, BASHIR, R, JAMES, OFW, BASSENDINE, MF, LI, TK & EDENBERG, HJ (1990). POLYMORPHISMS AT THE ALCOHOL-DEHYDROGENASE LOCI - A ROLE IN GENETICSUSCEPTIBILITY TO ALCOHOL RELATED CIRRHOSIS AND CHRONIC-PANCREATITIS. Hepatology 12(2): 393-393.

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