Zobrazeno 1 - 10
of 152
pro vyhledávání: '"Darren G Monckton"'
Autor:
Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0231000 (2020)
Myotonic dystrophy type 1 (DM1) is a rare genetic disorder, characterised by muscular dystrophy, myotonia, and other symptoms. DM1 is caused by the expansion of a CTG repeat in the 3'-untranslated region of DMPK. Longer CTG expansions are associated
Externí odkaz:
https://doaj.org/article/98c9e046fa80486cac510a3bd487250e
Autor:
Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G Monckton, Fernando Morales
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216407 (2019)
Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased features of somatic mosaicism of the expanded CTG repeat. Previously, we showed that by contr
Externí odkaz:
https://doaj.org/article/2ad7d19cb5c446329cb2e93f06d76a02
Autor:
Renée H.L. Raaijmakers, C. Rosanne M. Ausems, Marieke Willemse, Sarah A. Cumming, Baziel G.M. van Engelen, Darren G. Monckton, Hans van Bokhoven, Derick G. Wansink
Publikováno v:
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Background Cell-based strategies are being explored as a therapeutic option for muscular dystrophies, using a variety of cell types from different origin and with different characteristics. Primary pericytes are multifunctional cells found i
Externí odkaz:
https://doaj.org/article/d2979695721748088df787f7fc2a6289
Autor:
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174166 (2017)
ObjectiveHigh sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1).Methods117 patients with DM1 were r
Externí odkaz:
https://doaj.org/article/d5d3a07f0d044a9eaff8ffc4d1e835f1
Autor:
Mark J Hamilton, Yvonne Robb, Sarah Cumming, Helen Gregory, Alexis Duncan, Monika Rahman, Anne McKeown, Catherine McWilliam, John Dean, Alison Wilcox, Maria E Farrugia, Anneli Cooper, Josephine McGhie, Berit Adam, Richard Petty, Scottish Myotonic Dystrophy Consortium, Cheryl Longman, Iain Findlay, Alan Japp, Darren G Monckton, Martin A Denvir
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175615 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0174166.].
Externí odkaz:
https://doaj.org/article/56a3cbe0541c4295bf62c35bfe38c55f
Autor:
Stéphanie Tomé, Kevin Manley, Jodie P Simard, Greg W Clark, Meghan M Slean, Meera Swami, Peggy F Shelbourne, Elisabeth R M Tillier, Darren G Monckton, Anne Messer, Christopher E Pearson
Publikováno v:
PLoS Genetics, Vol 9, Iss 2, p e1003280 (2013)
Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy. Broad ranges of repeat instability arise be
Externí odkaz:
https://doaj.org/article/e0bb9127dfe5406088d109096406ad81
Autor:
Colm E Nestor, Darren G Monckton
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28260 (2011)
Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebella
Externí odkaz:
https://doaj.org/article/b2bc60d0eafb4ff8a14f2728014a33e9
Autor:
Fernando Morales, Eyleen Corrales, Melissa Vásquez, Baili Zhang, Huberth Fernández, Fernando Alvarado, Sergio Cortés, Carolina Santamaría-Ulloa, Marigold Myotonic Dystrophy Biomarkers Discovery Initiative-MMDBDI, Ralf Krahe, Darren G Monckton
Publikováno v:
Human Molecular Genetics. 32:621-631
Myotonic dystrophy type 1 is a complex disease caused by a genetically unstable CTG repeat expansion in the 3′-untranslated region of the DMPK gene. Age-dependent, tissue-specific somatic instability has confounded genotype–phenotype associations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66faf5ce29b261845a90a8f6bbe256e
https://doi.org/10.1093/hmg/ddac231
https://doi.org/10.1093/hmg/ddac231
Autor:
Walt E. Adamson, Harry Noyes, Paul Johnson, Anneli Cooper, Darren G. Monckton, John Ogunsola, Michael Sullivan, Patrick Mark, Rulan S. Parekh, Annette MacLeod
BackgroundInfectious diseases are a major driving force of natural selection. One human gene associated with strong evolutionary selection isAPOL1. TwoAPOL1variants, G1 and G2, emerged in sub-Saharan Africa in the last 10,000 years, possibly due to p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8adca9368bf67186913aa6404b590e6c
https://doi.org/10.1101/2023.02.19.23285950
https://doi.org/10.1101/2023.02.19.23285950
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467b8c6a7d2fd77701af241e15b9bce6
https://doi.org/10.1093/nargab/lqac089
https://doi.org/10.1093/nargab/lqac089