R. Bashir

发表

Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol‐related end‐organ damage

Ting-kai Li, H. Edenberg, D. Crabb, 1991, Hepatology.

Dysferlin is a plasma membrane protein and is expressed early in human development.

K. Bushby, M. Johnson, F. Fougerousse, 1999, Human molecular genetics.

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

A. Bird, M. Jay, F. Fitzke, 1992, Human molecular genetics.

Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

S S Bhattacharya, A C Bird, M Jay, 1990, American journal of human genetics.

Retinitis pigmentosa and mutations in rhodopsin

A. Bird, M. Jay, S. Bhattacharya, 1991, The Lancet.

A 3-bpDeletion intheRhodopsin Geneina Family with Autosomal Dominant Retinitis Pigmentosa

S. Bhattacharya, C. Inglehearn, R. Bashir, 1991 .

Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion

J. Jaiswal, A. Bigot, R. Bashir, 2014, Cell Death and Disease.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

F. Baas, B. Brais, W. Linssen, 2010, American journal of human genetics.

A new distal myopathy with mutation in anoctamin 5

J. Jaiswal, S. Kiuru-Enari, A. Lamminen, 2010, Neuromuscular Disorders.

Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

J. Jaiswal, S. Simon, S. Kiuru-Enari, 2007, Traffic.

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

S. Kiuru-Enari, W. Linssen, A. Lamminen, 2012, Neuromuscular Disorders.

No evidence for involvement of type 1 collagen structural genes in 'genetic predisposition' to alcoholic cirrhosis.

B. Sykes, C. Day, D. Ogilvie, 1992, Journal of hepatology.

Localisation of a gene for Darier's disease.

T. Strachan, J. Rees, C. Munro, 1993, Human molecular genetics.

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

N. Bourg, I. Richard, N. Lévy, 2012, PloS one.

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

J. Beckmann, K. Bushby, I. Richard, 2000, Brain : a journal of neurology.

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

K. Bushby, H. Lassmann, R. Bashir, 1999, Nature Genetics.

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

A. Bird, M. Jay, C. Inglehearn, 1992, American journal of human genetics.

The third human FER-1-like protein is highly similar to dysferlin.

K. Bushby, T. Freeman, R. Bashir, 2000, Genomics.

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

K. Bushby, R. Bashir, L. Anderson, 2001, Neuroreport.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

J. Beckmann, K. Bushby, J. Oeltjen, 2001, Neurology.

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

J. Beckmann, K. Bushby, H. Goebel, 2000, Neuromuscular Disorders.

J. Beckmann, K. Bushby, M. Lako, 1998, Nature Genetics.

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

C. Greenberg, T. Weiler, R. Bashir, 1999, Human molecular genetics.

Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129.

J. Weissenbach, R. Kucherlapati, E. Healy, 1994, Genomics.

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

A. Bird, M. Jay, S. Bhattacharya, 1993, Nature Genetics.

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

M. Jay, S. Bhattacharya, D. Bradley, 1990, American journal of human genetics.

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.

K. Bushby, T. Strachan, L. Nashef, 1994, Human molecular genetics.

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b.

J. Watson, P. Driscoll, N. Keep, 2008, Journal of molecular biology.

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

J. L. Jimenez, R. Bashir, 2007, Journal of the Neurological Sciences.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Susan C. Brown, J. Burgunder, K. Bushby, 2001, Human molecular genetics.

Molecular Pathogenesis of Genetic and Inherited Diseases Dysferlin Deficiency Shows Compensatory Induction of Rab 27 A / Slp 2 a That May Contribute to Inflammatory Onset

Eric P. Hoffman, Mitsunori Fukuda, Kanneboyina Nagaraju, 2010 .

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

E. Hoffman, A. Kesari, G. Nader, 2008, The American journal of pathology.

Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.

J. Weissenbach, D. Le Paslier, K. Bushby, 1996, Genomics.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

K. Bushby, T. Strachan, M. Passos-Bueno, 1996, Journal of medical genetics.

Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13.

K. Bushby, M. Meisler, W. Jang, 1996, Genomics.

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

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

A. Bird, M. Jay, S. Bhattacharya, 1991, American journal of human genetics.

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

A. Bird, M. Jay, S. Bhattacharya, 1991, Genomics.

No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.

H. J. Evans, A. Bird, M. Jay, 1990, Genomics.

Linkage toD3S47(C17) inOne large AutosomalDominant Retinitis Pigmentosa FamilyandExclusion inAnother: Confirmation ofGenetic Heterogeneity

A. Wright, S. Bhattacharya, C. Inglehearn, 1990 .

Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.

M. Passos-Bueno, E. Bakker, M. Vainzof, 1995, Genomics.

Selected Reference(s) Additional References

K. Bushby, M. Lassmann, R. Bashir, 2022 .

Muscular dystrophy due to dysferlin deficiency in

J. Beckmann, I. Richard, E. Kahana, 2000 .

The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13

K. Bushby, T. Strachan, M. Passos-Bueno, 1996, Neuromuscular Disorders.

Limb-girdle muscular dystrophy: A follow-up study of 79 patients

K. Bushby, A. Pizzi, R. Bashir, 1996, Neuromuscular Disorders.

AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - EVIDENCE FOR AT LEAST 2 GENETIC-LOCI

A. Bird, M. Jay, A. Wright, 1990 .

Merosin-positive congenital muscular dystrophy: a large inbred family.

F. Muntoni, A. Pizzi, K. Bushby, 1999, Neuropediatrics.

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.

A. Bird, M. Jay, C. Inglehearn, 1992, Genomics.

Report and abstracts of the Third International Workshop on Human Chromosome 2 Mapping 1994. Aarhus, Denmark, June 24-26, 1994.

K. Bushby, F. Hildebrandt, N. Spurr, 1994, Cytogenetics and Cell Genetics.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

N. Bourg, R. Barohn, D. McKenna-Yasek, 2001, Neurology.

Abstracts of the joint meeting of the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 April 1990 at University of Newcastle upon Tyne Medical School

A. Bird, M. Jay, R. Bashir, 1990 .