Výsledky vyhledávání - "Steve, Laval"

Akademický článek

Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy.

Autor: Alison Blain, Elizabeth Greally, Steve Laval, Andrew Blamire, Volker Straub, Guy A MacGowan

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e57260 (2013)

Beta-blockers are used to treat acquired heart failure in adults, though their role in early muscular dystrophy cardiomyopathy is unclear. We treated 2 different dystrophic mouse models which have an associated cardiomyopathy (mdx: model for Duchenne

Externí odkaz: https://doaj.org/article/5557cdb2d702461e852af3de35311569

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Akademický článek

Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance.

Autor: Vlad C Seitan, Peter Banks, Steve Laval, Nazia A Majid, Dale Dorsett, Amer Rana, Jim Smith, Alex Bateman, Sanja Krpic, Arnd Hostert, Robert A Rollins, Hediye Erdjument-Bromage, Paul Tempst, Claire Y Benard, Siegfried Hekimi, Sarah F Newbury, Tom Strachan

Publikováno v: PLoS Biology, Vol 4, Iss 8, p e242 (2006)

Saccharomyces cerevisiae Scc2 binds Scc4 to form an essential complex that loads cohesin onto chromosomes. The prevalence of Scc2 orthologs in eukaryotes emphasizes a conserved role in regulating sister chromatid cohesion, but homologs of Scc4 have n

Externí odkaz: https://doaj.org/article/905526567a814e9d811096e004551e1c

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Neural crest cell-specific inactivation ofNipblorMau2during mouse development results in a late onset of craniofacial defects

Autor: Tom Strachan, Steve Laval, Terence Gordon Smith, Matthew James Rock, Heiko Peters, Fangli Chen

Publikováno v: genesis. 52:687-694

Summary Nipbl (Scc2) and Mau2 (Scc4) encode evolutionary conserved proteins that play a vital role for loading the cohesin complex onto chromosomes, thereby ensuring accurate chromosome segregation during cell division. While mutations in human NIPBL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88295abcf32f5990f86612090622337e
https://doi.org/10.1002/dvg.22780

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ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Autor: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

Publikováno v: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687
https://doi.org/10.1002/humu.22342

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Optimization of Internally Deleted Dystrophin Constructs

Autor: Hanns Lochmüller, Stephanie Carr, Mojgan Reza, Andreas Roos, Steve Laval

Publikováno v: Human gene therapy methods. 27(5)

Duchenne muscular dystrophy (DMD) is a severe, genetic muscle disease caused by the absence of the sarcolemmal protein dystrophin. Gene replacement therapy is considered a potential strategy for the treatment of DMD, aiming to restore the missing pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16e241713213244f13ef33c0f9e6548
https://pubmed.ncbi.nlm.nih.gov/27477497

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Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

Autor: Johan Lindqvist, Caoimhe McKenna, Emily M LeProust, Ramakrishna Kurapati, Paul Denny, Michelle Simon, Natalie Carroll, Jane Baker, Michael Cheeseman, Julien Ochala, Steve Laval, Debbie Williams, Gonzalo Blanco, Hanns Lochmüller

Publikováno v: Human Molecular Genetics. 21:1706-1724

Ariel is a mouse mutant that suffers from skeletal muscle myofibrillar degeneration due to the rapid accumulation of large intracellular protein aggregates. This fulminant disease is caused by an ENU-induced recessive mutation resulting in an L342Q c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9e212eb85d7af5fadeeef9f93a1763
https://doi.org/10.1093/hmg/ddr605

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Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle

Autor: Henrik Daa Schrøder, Heinrich Brinkmeier, Kate Bushby, E. Greally, Steve Laval, Louise Helskov Jørgensen, Guy A. MacGowan, A. Blain, Benjamin J. Davison, Volker Straub, Hanns Lochmüller, Andrew M. Blamire

Publikováno v: Jørgensen, L H, Blain, A, Greally, E, Laval, S H, Blamire, A M, Davison, B J, Brinkmeier, H, Macgowan, G A, Schrøder, H D, Bushby, K, Straub, V & Lochmüller, H 2011, ' Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle ', American Journal of Pathology, vol. 178, no. 1, pp. 273-283 . https://doi.org/10.1016/j.ajpath.2010.11.027
The American Journal of Pathology

The disease mechanisms underlying dystrophin-deficient muscular dystrophy are complex, involving not only muscle membrane fragility, but also dysregulated calcium homeostasis. Specifically, it has been proposed that calcium channels directly initiate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a0800b241baa6d8f061b5d8861c13c
https://doi.org/10.1016/j.ajpath.2010.11.027

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Autor: Cecilia Jimenez-Mallebrera, Maggie C. Walter, Pascale Richard, Volker Straub, K. Bushby, Susana Quijano-Roy, Hanns Lochmüller, Steve Laval, Francesco Muntoni, AK Lampe, Valérie Allamand, Debbie Hicks

Publikováno v: Brain. 132:147-155

Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). Although the Col6a1(-/-) null mouse has an extremely mild neuro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8283cc762ddf4623b3a111d6780602af
https://doi.org/10.1093/brain/awn289

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Publikováno v: Human Mutation, 29(6), 809-822. Wiley-Liss Inc.
Lampe, A K, Zou, Y, Sudano, D, O'Brien, K K, Hicks, D, Laval, S H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R Z, Finkel, R S, Tennekoon, G, Schreiber, G, van der Knaap, M S, Marks, H, Straub, V, Flanigan, K M, Chu, M L, Muntoni, F, Bushby, K M D & Bonnemann, C G 2008, ' Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance ', Human Mutation, vol. 29, no. 6, pp. 809-822 . https://doi.org/10.1002/humu.20704
Human mutation, 29(6), 809-822. Wiley-Liss Inc.

Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two related conditions of differing severity. BM is a relatively mild dominantly inherited disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f76c3717d551e7d249f699bbda8d0dd
https://doi.org/10.1002/humu.20704

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