Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Juliet A Ellis"'
Autor:
Viola F Gnocchi, Juergen Scharner, Zhe Huang, Ken Brady, Jaclyn S Lee, Robert B White, Jennifer E Morgan, Yin-Biao Sun, Juliet A Ellis, Peter S Zammit
Publikováno v:
PLoS ONE, Vol 6, Iss 2, p e16651 (2011)
LMNA encodes both lamin A and C: major components of the nuclear lamina. Mutations in LMNA underlie a range of tissue-specific degenerative diseases, including those that affect skeletal muscle, such as autosomal-Emery-Dreifuss muscular dystrophy (A-
Externí odkaz:
https://doaj.org/article/73e492a68abf478296efc077c4ca2123
Publikováno v:
PLoS ONE, Vol 4, Iss 4, p e5205 (2009)
Satellite cells are the resident stem cells of adult skeletal muscle. To date though, there is a paucity of native markers that can be used to easily identify quiescent satellite cells, with Pax7 probably being the best that is currently available. H
Externí odkaz:
https://doaj.org/article/4204c319f77540cc85deefbeb9b56eb8
Publikováno v:
Proteins: Structure, Function, and Bioinformatics. 82:904-915
Mutations in A-type nuclear lamins cause laminopathies. However, genotype-phenotype correlations using the 340 missense mutations within the LMNA gene are unclear: partially due to the limited availability of three-dimensional structure. The immunogl
Autor:
Colin L. Stewart, Roland Foisner, Juliet A. Ellis, Aditi Phadke, Terence A. Partridge, Peter S. Zammit, Viola F. Gnocchi, Henry Liu, Tatiana V. Cohen, Jonathan Cohen
Publikováno v:
Human Molecular Genetics. 22:2852-2869
Mutations in lamin A/C result in a range of tissue-specific disorders collectively called laminopathies. Of these, Emery-Dreifuss and Limb-Girdle muscular dystrophy 1B mainly affect striated muscle. A useful model for understanding both laminopathies
Publikováno v:
Nucl.Part.Phys.Proc.
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics, Jun 2016, Anacapri, Italy. Nucl.Part.Phys.Proc., 285-286, pp.160-165, 2017, 〈10.1016/j.nuclphysbps.2017.03.029〉
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics, Jun 2016, Anacapri, Italy. pp.160-165, ⟨10.1016/j.nuclphysbps.2017.03.029⟩
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics, Jun 2016, Anacapri, Italy. Nucl.Part.Phys.Proc., 285-286, pp.160-165, 2017, 〈10.1016/j.nuclphysbps.2017.03.029〉
6th Workshop on Theory, Phenomenology and Experiments in Flavour Physics, Jun 2016, Anacapri, Italy. pp.160-165, ⟨10.1016/j.nuclphysbps.2017.03.029⟩
We discuss the prospects for observing CP violation in the MSSM with six CP-violating phases, using a geometric approach to maximise CP-violating observables subject to the experimental upper bounds on electric dipole moments. We consider constraints
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a15d8d17e434e0406e0c502df055bc3
Autor:
Juliet A. Ellis, Sue Shackleton
Publikováno v:
Biochemical Society Transactions. 39:1683-1686
The fifth U.K. meeting on nuclear envelope disease and chromatin brought together international experts from across the field of nuclear envelope biology to discuss the advancements in a class of tissue-specific degenerative diseases called the lamin
Autor:
Charlotte A. Brown, Carol A. Crowe, Ora Gordon, Carla Grosmann, Viola F. Gnocchi, Ismail A. Khatri, Matthew Bower, Erynn S. Gordon, Kevin J. Felice, Alexander Asamoah, Juliet A. Ellis, Peter S. Zammit, Diana M. Escolar, Susan T. Iannaccone, Matthew N. Meriggioli, Jerry R. Mendell, Juergen Scharner
Publikováno v:
Human Mutation; Vol 32
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we
Publikováno v:
Biochemical Society Transactions. 38:257-262
A-type laminopathies are a group of diseases resulting from mutations in the intermediate filament proteins lamin A and C (both encoded by the LMNA gene), but for which the pathogenic mechanisms are little understood. In some laminopathies, there is
Autor:
Manfred Wehnert, Matthew A. Wheeler, Lindsay J. Emerson, Mark R. Holt, Juliet A. Ellis, Maddy Parsons
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1792:810-821
In-frame mutations in nuclear lamin A/C lead to a multitude of tissue-specific degenerative diseases known as the ‘laminopathies’. Previous studies have demonstrated that lamin A/C-null mouse fibroblasts have defects in cell polarisation, suggest
Publikováno v:
Biochemical Society Transactions. 36:1344-1349
Muscular dystrophies comprise at least 34 conditions, characterized by progressive skeletal muscle weakness and degeneration. The loci affected include mutations in both muscle-specific genes and genes that are more widely expressed such as LMNA and