Search Results - "Bashir, Rumaisa"

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies by Bolduc, Véronique, Marlow, Gareth, Boycott, Kym M., Saleki, Khalil, Inoue, Hiroshi, Kroon, Johan, Itakura, Mitsuo, Robitaille, Yves, Parent, Lucie, Baas, Frank, Mizuta, Kuniko, Kamata, Nobuyuki, Richard, Isabelle, Linssen, Wim H.J.P., Mahjneh, Ibrahim, de Visser, Marianne, Bashir, Rumaisa, Brais, Bernard

“…The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been shown to correspond to…”
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Atorvastatin Induced Erythrocytes Membrane Blebbing by Rana, Rumaisa Bashir, Jilani, Kashif, Shahid, Muhammad, Riaz, Muhammad, Ranjha, Mazhar Hussain, Bibi, Ismat, Asghar, Asma, Irfan, Muhammad

“…Atorvastatin, an inhibitor of 3-hydroxy-3-methylglutaryl-coenzymeA reductase, is usually used for the treatment of hypercholesterolemia. Besides its…”
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Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy by Lostal, William, Bartoli, Marc, Roudaut, Carinne, Bourg, Nathalie, Krahn, Martin, Pryadkina, Marina, Borel, Perrine, Suel, Laurence, Roche, Joseph A, Stockholm, Daniel, Bloch, Robert J, Levy, Nicolas, Bashir, Rumaisa, Richard, Isabelle

“…Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in…”
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B by Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem, Mahjneh, Ibrahim, Marconi, Giampiero, Passos-Bueno, Maria Rita, Moreira, Eloisa de S, Zatz, Mayana, Beckmann, Jacques S

“…The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal…”
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Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B by Patel, Pryank, Harris, Richard, Geddes, Stella M., Strehle, Eugen-Matthias, Watson, James D., Bashir, Rumaisa, Bushby, Katharine, Driscoll, Paul C., Keep, Nicholas H.

“…Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large…”
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Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation by Vafiadaki, Elizabeth, Reis, Andre, Keers, Sharon, Harrison, Ruth, Anderson, Louise V. B, Raffelsberger, Thomas, Ivanova, Silva, Hoger, Harald, Bittner, Reginald E, Bushby, Kate, Bashir, Rumaisa

“…The SJL mouse strain has been widely used as an animal model for experimental autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has…”
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Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p by Bashir, Rumaisa, Keers, Sharon, Strachan, Tom, Passos-Bueno, Rita, Zatz, Mayana, Weissenbach, Jean, Le Paslier, Denis, Meisler, Miriam, Bushby, Kate

“…The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of disorders, different forms of which have been mapped to at least six…”
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A new distal myopathy with mutation in anoctamin 5 by Mahjneh, Ibrahim, Jaiswal, Jyoti, Lamminen, Antti, Somer, Mirja, Marlow, Gareth, Kiuru-Enari, Sari, Bashir, Rumaisa

“…Abstract We have been following clinically and with muscle MRI for the past 3-decades a Finnish family with two patients with distal muscular dystrophy…”
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Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study by Mahjneh, Ibrahim, Bashir, Rumaisa, Kiuru-Enari, Sari, Linssen, Wim, Lamminen, Antti, Visser, Marianne de

“…Abstract Anoctaminopathy is a new muscular dystrophy caused by mutations in the ANO5 gene. ANO5 mutations cause distal and proximal phenotypes. We report here…”
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C by Brockington, M, Yuva, Y, Prandini, P, Brown, S C, Torelli, S, Benson, MA, Herrmann, R, Anderson, LVB, Bashir, R, Burgunder, J-M, Fallet, S, Romero, N, Fardeau, M, Muntoni, F

“…The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of…”
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C by BROCKINGTON, Martin, YUVA, Yeliz, FALLET, Shari, ROMERO, Norma, FARDEAU, Michel, STRAUB, Volker, STOREY, Gillian, POLLITT, Christine, RICHARD, Isabelle, SEWRY, Caroline A, BUSHBY, Kate, VOIT, Thomas, PRANDINI, Paola, BLAKE, Derek J, MUNTONI, Francesco, BROWN, Susan C, TORELLI, Silvia, BENSON, Matthew A, HERRMANN, Ralf, ANDERSON, Louise V. B, BASHIR, Rumaisa, BURGUNDER, Jean-Marc

“…The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of…”
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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 by Jiménez, José L, Bashir, Rumaisa

“…Abstract Ferlins are C2 domain proteins involved in membrane fusion events, including membrane repair and synaptic exocytosis, and their deficiency can result…”
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Dysferlin Deficiency Shows Compensatory Induction of Rab27A/Slp2a That May Contribute to Inflammatory Onset by Kesari, Akanchha, Fukuda, Mitsunori, Knoblach, Susan, Bashir, Rumaisa, Nader, Gustavo A, Rao, Deepak, Nagaraju, Kanneboyina, Hoffman, Eric P

“…Mutations in the dysferlin gene cause limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy. Dysferlin-deficient cells show abnormalities in…”
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Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect by Jaiswal, Jyoti K., Marlow, Gareth, Summerill, Gillian, Mahjneh, Ibrahim, Mueller, Sebastian, Hill, Maria, Miyake, Katsuya, Haase, Hannelore, Anderson, Louise V. B., Richard, Isabelle, Kiuru‐Enari, Sari, McNeil, Paul L., Simon, Sanford M., Bashir, Rumaisa

“…Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin…”
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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development by Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Young, Carol, Cullen, Michael J., Walsh, John, Johnson, Margaret A., Bashir, Rumaisa, Britton, Stephen, Keers, Sharon, Argov, Zohar, Mahjneh, Ibrahim, Fougerousse, Françoise, Beckmann, Jacques S., Bushby, Kate M. D.

“…Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with Miyoshi myopathy…”
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Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B by Storch, Maria, Burkhardt, Elke, Moss, Jennifer A, Ivanova, Silva, Reis, André, Harrison, Ruth, Maerk, Isabel, Karbasiyan, Mohsen, Lassmann, Hans, Höger, Harald, Davison, Keith, Bittner, Reginald E, Jung, Martin, Vafiadaki, Elizabeth, Raffelsberger, Thomas, Bushby, Kate M.D, Anderson, Louise V.B, Bashir, Rumaisa

“…The SJL mouse strain is susceptible to many induced autoimmune diseases such as experimental autoimmune encephalitis (EAE) and inflammatory muscle disease…”
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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s) by Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus

“…Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a distal muscular dystrophy, are both caused by mutations in the recently cloned…”
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Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features by 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

“…The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this…”
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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) by Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D

“…Dysferlin is the protein product of the gene ( DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Calpain 3…”
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The Third Human FER-1-like Protein Is Highly Similar to Dysferlin by Britton, Stephen, Freeman, Tom, Vafiadaki, Elizabeth, Keers, Sharon, Harrison, Ruth, Bushby, Kate, Bashir, Rumaisa

“…Dysferlin, the protein product of the gene mutated in patients with an autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) and a distal…”
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