Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Claudia, Calabrese"'
Autor:
Claudia Calabrese, Angela Pyle, Helen Griffin, Jonathan Coxhead, Rafiqul Hussain, Peter S Braund, Linxin Li, Annette Burgess, Patricia B Munroe, Louis Little, Helen R Warren, Claudia Cabrera, Alistair Hall, Mark J Caulfield, Peter M Rothwell, Nilesh J Samani, Gavin Hudson, Patrick F Chinnery
Publikováno v:
PLoS Genetics, Vol 18, Iss 4, p e1010068 (2022)
Mitochondria are implicated in the pathogenesis of cardiovascular diseases (CVDs) but the reasons for this are not well understood. Maternally-inherited population variants of mitochondrial DNA (mtDNA) which affect all mtDNA molecules (homoplasmic) a
Externí odkaz:
https://doaj.org/article/024869c07de9440983db87b9f466acd3
Publikováno v:
Remate de Males, Vol 40, Iss 2 (2020)
Desde a sua estreia, Pasolini mostrou depositar uma grande confiança na música e nos sons, considerando-os instrumentos essenciais à expressão e até mesmo, já na época da revolução antropológica, similares a ações da realidade. Assim ele
Externí odkaz:
https://doaj.org/article/916b8374a87742fcb28515f7456c3e6c
Autor:
Fulvio Ricceri, Enrica Favaro, Gregory Winston Gilcrease, Sara Claudia Calabrese, Elisa Ferracin, Daniela Di Cuonzo, Alessandra Macciotta, Alberto Catalano, Lucia Dansero, Angelo d’Errico, Pierfrancesco Franco, Gianmauro Numico, Roberto Gnavi, Giuseppe Costa, Eva Pagano, Carlotta Sacerdote
Background Breast Cancer (BC) is a leading public-health issue affecting women on a global scale, accounting for about 500,000 new cases every year in Europe. Thanks to the widespread implementation of screening programs and the improvement in therap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e32b85508845a86360de13820447b580
https://doi.org/10.21203/rs.3.rs-2550608/v1
https://doi.org/10.21203/rs.3.rs-2550608/v1
Autor:
Haixin Zhang, Marco Esposito, Mikael G. Pezet, Juvid Aryaman, Wei Wei, Florian Klimm, Claudia Calabrese, Stephen P. Burr, Carolina H. Macabelli, Carlo Viscomi, Mitinori Saitou, Marcos R. Chiaratti, James B. Stewart, Nick Jones, Patrick F. Chinnery
Publikováno v:
Sci Adv
Science Advances
Science Advances
Description
Single-cell analysis of mouse oocytes implicates the preferential transmission of a pathogenic mitochondrial DNA (mtDNA) mutation.
Heteroplasmic mitochondrial DNA (mtDNA) mutations are a common cause of inherited disease, but a
Single-cell analysis of mouse oocytes implicates the preferential transmission of a pathogenic mitochondrial DNA (mtDNA) mutation.
Heteroplasmic mitochondrial DNA (mtDNA) mutations are a common cause of inherited disease, but a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a9ff27a2ee844a9756e003ff345aa7
http://hdl.handle.net/10044/1/93484
http://hdl.handle.net/10044/1/93484
Autor:
Aurora Gomez-Duran, Ekaterina Yonova-Doing, Joanna M M Howson, Claudia Calabrese, Patrick F. Chinnery, Savita Karthikeyan, Wei Wei, Katherine Schon
Publikováno v:
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Nature genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
Consejo Superior de Investigaciones Científicas (CSIC)
Nature genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname
19 p.-7 fig.-4 tab.
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show corre
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show corre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae8a58d00542ad3f2acc442384a5130
http://hdl.handle.net/10261/241525
http://hdl.handle.net/10261/241525
SummaryMethylation on CpG residues is one of the most important epigenetic modifications of nuclear DNA, regulating gene expression. Methylation of mitochondrial DNA (mtDNA) has been studied using whole genome bisulfite sequencing (WGBS), but recent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ca31cf96436368c5df773690d1b7a40
https://doi.org/10.1101/2021.02.20.432086
https://doi.org/10.1101/2021.02.20.432086
Publikováno v:
Remate de Males, Vol 40, Iss 2 (2020)
Desde a sua estreia, Pasolini mostrou depositar uma grande confiança na música e nos sons, considerando-os instrumentos essenciais à expressão e até mesmo, já na época da revolução antropológica, similares a ações da realidade. Assim ele
Autor:
Rachael A Lawson, Adam S. Butterworth, Emanuele Di Angelantonio, Klaudia Walter, Joanna M M Howson, Lixin Li, Caroline H. Williams-Gray, Ekaterina Yonova-Doing, Zoe J. Golder, Marta Camacho, Aurora Gomez-Duran, Peter M. Rothwell, Kousik Kundu, Na Cai, Maik Pietzner, Nicholas J. Wareham, John Danesh, Annette I. Burgess, Willem H. Ouwehand, Oliver Stegle, Marc Jan Bonder, Claudia Calabrese, Claudia Langenberg, Nicole Soranzo, Nicholas A. Watkins, Patrick F. Chinnery, David J. Roberts, Isobel D. Stewart
Publikováno v:
Nat. Med. 27, 1564-1575 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
47 p.-11 fig.
Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but the reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 blood-derived biomarkers with mtDNA variants in 16,
Mitochondrial DNA (mtDNA) variants influence the risk of late-onset human diseases, but the reasons for this are poorly understood. Undertaking a hypothesis-free analysis of 5,689 blood-derived biomarkers with mtDNA variants in 16,
Autor:
Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
Publikováno v:
The EMBO Journal
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6‐months of age. RIRCD is associated with the homoplasmic m.14674T>C m
Autor:
Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029