Zobrazeno 1 - 10
of 601
pro vyhledávání: '"Douglass M, Turnbull"'
Autor:
Konstantin Khrapko, Zoe Fleischmann, Maxim Braverman, Markuzon N, Jonathan L. Tilly, Douglass M. Turnbull, Sarah J Pickett, David Stein, Dori C. Woods, Konstantin Popadin, Mark Khrapko, D. Aidlen, Melissa Franco
Publikováno v:
Human Molecular Genetics. 31:4075-4086
The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a839a2f5c569df08360250b0e656a392
https://doi.org/10.1093/hmg/ddac149
https://doi.org/10.1093/hmg/ddac149
Autor:
Douglass M. Turnbull, Pierre Rustin
Publikováno v:
Neurobiology of Disease, Vol 92, Iss , Pp 55-63 (2016)
The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today up to 300 mutations were identified in the mitochondrial genome and about 200 nuclear genes are possi
Externí odkaz:
https://doaj.org/article/af6a778e4cb84039a0f7a9df20c33b87
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769
https://doi.org/10.1056/nejmoa2035790
https://doi.org/10.1056/nejmoa2035790
Autor:
Robert McFarland, Cornelia Kornblum, David R. Thorburn, Anu Suomalainen, Laurence A. Bindoff, Michelangelo Mancuso, Grainne S. Gorman, Thomas Klopstock, Y.S. Ng, Robert W. Taylor, Douglass M. Turnbull, Carolyn M. Sue
Publikováno v:
The lancet / Neurology 20(7), 573-584 (2021). doi:10.1016/S1474-4422(21)00098-3
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5 years. Development of national mitochondrial dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4274b1f361652904111cc4c8ac3c925b
https://doi.org/10.1016/s1474-4422(21)00098-3
https://doi.org/10.1016/s1474-4422(21)00098-3
Publikováno v:
Human Molecular Genetics
Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. The mitochondrial genome occurs in multiple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA variants. A bioc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745013cd2f3b3eec50f13502a051f6ba
http://europepmc.org/articles/PMC8490015
http://europepmc.org/articles/PMC8490015
Publikováno v:
Emerging Topics in Life Sciences. 4:151-154
In 2015, the UK became the first country to approve the use of mitochondrial donation. This novel in vitro fertilisation treatment was developed to prevent transmission of mitochondrial DNA (mtDNA) disease and ultimately give more reproductive choice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc4f21f2139dbd82e557564b55b9c51
https://doi.org/10.1042/etls20190196
https://doi.org/10.1042/etls20190196
Publikováno v:
Journal of Microscopy. 278:89-106
Mitochondrial shape and function are known to be linked; therefore, there is a need to combine three-dimensional EM structural analysis with functional analysis. Cytochrome c oxidase labelling is one approach to examine mitochondrial function at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0bd7251c2b16dcf52e28dc45a4f9d4
https://doi.org/10.1111/jmi.12891
https://doi.org/10.1111/jmi.12891
Publikováno v:
Cell. 181:168-188
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum of mutations in genes encoded by either the nuclear or the mitochondrial genome. Treatments for mitochondrial diseases are currently focused on symptomatic manage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844ef3de46eae4a8d30d0c3ce4bd9ab4
https://doi.org/10.1016/j.cell.2020.02.051
https://doi.org/10.1016/j.cell.2020.02.051
Autor:
Andrew R. Tee, Pavandeep K. Rai, Douglass M. Turnbull, Mohd Shazli Draman, Colin M. Dayan, Lei Zhang, Marian Ludgate, D. Aled Rees, Satomi Miwa, Daniel S Morris, Anjana S Haridas
Context Depot-specific expansion of orbital adipose tissue (OAT) in Graves orbitopathy (GO; an autoimmune condition producing proptosis, visual impairment and reduced quality of life) is associated with fatty acid (FA)-uptake–driven adipogenesis in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d17d1ca9f92e5bf145d5296d378ec8
Autor:
Evangeline Wassmer, Louise Simmons, Robert W. Taylor, Charlotte L. Alston, Grainne S. Gorman, Yi Shiau Ng, Saikat Santra, Alasdair P. Blain, Robert McFarland, Douglass M. Turnbull, Albert Z Lim, Victoria Nesbitt, Emma L. Blakely, Cecilia Jiminez-Moreno
Publikováno v:
Annals of neurology. 91(1)
OBJECTIVE This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome. METHODS Seventy-two Leigh syndrome children who co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1686ad1b9506423a5e0c71768812eb12
https://pubmed.ncbi.nlm.nih.gov/34716721
https://pubmed.ncbi.nlm.nih.gov/34716721