Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Alan Hodgkinson"'
Autor:
Aine Fairbrother-Browne, Sonia García-Ruiz, Regina Hertfelder Reynolds, Mina Ryten, Alan Hodgkinson
Publikováno v:
GigaByte (2023)
We present ensemblQueryR, an R package for querying Ensembl linkage disequilibrium (LD) endpoints. This package is flexible, fast and user-friendly, and optimised for high-throughput querying. ensemblQueryR uses functions that are intuitive and amena
Externí odkaz:
https://doaj.org/article/12c62369e51a48d69b2135df1e07841b
Publikováno v:
BMC Biology, Vol 20, Iss 1, Pp 1-15 (2022)
Abstract Background The human mitochondrial genome is transcribed as long strands of RNA containing multiple genes, which require post-transcriptional cleavage and processing to release functional gene products that play vital roles in cellular energ
Externí odkaz:
https://doaj.org/article/20e39d84257d490289daea76946d8afe
Autor:
Francisco Rodriguez-Algarra, Robert A. E. Seaborne, Amy F. Danson, Selin Yildizoglu, Harunori Yoshikawa, Pui Pik Law, Zakaryya Ahmad, Victoria A. Maudsley, Ama Brew, Nadine Holmes, Mateus Ochôa, Alan Hodgkinson, Sarah J. Marzi, Madapura M. Pradeepa, Matthew Loose, Michelle L. Holland, Vardhman K. Rakyan
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-17 (2022)
Abstract Background Ribosomal DNA (rDNA) displays substantial inter-individual genetic variation in human and mouse. A systematic analysis of how this variation impacts epigenetic states and expression of the rDNA has thus far not been performed. Res
Externí odkaz:
https://doaj.org/article/23885abfca144e819fd856b19d936cdb
Autor:
Aine Fairbrother-Browne, Aminah T. Ali, Regina H. Reynolds, Sonia Garcia-Ruiz, David Zhang, Zhongbo Chen, Mina Ryten, Alan Hodgkinson
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Fairbrother-Browne and collaborators analyze the relationship between nuclear and mitochondrial gene expression across the human brain and find correlation profiles that are governed by regional patterns. They show that these correlations are disrupt
Externí odkaz:
https://doaj.org/article/d5dd7c062e3448ff913f17a96a81fd0a
Autor:
Brooke C. Wilson, Lena Boehme, Ambra Annibali, Alan Hodgkinson, Thomas S. Carroll, Rebecca J. Oakey, Vlad C. Seitan
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
ZBTB11 mutations have been identified in patients with intellectual disability and morphological brain and neuromuscular defects, although the etiology was unknown. Here, the authors demonstrate that ZBTB11 regulates mitochondrial function by facilit
Externí odkaz:
https://doaj.org/article/adf8d876f768497c8f62fbbc52bfdbe3
Autor:
Marie-Julie Favé, Fabien C. Lamaze, David Soave, Alan Hodgkinson, Héloïse Gauvin, Vanessa Bruat, Jean-Christophe Grenier, Elias Gbeha, Kimberly Skead, Audrey Smargiassi, Markey Johnson, Youssef Idaghdour, Philip Awadalla
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Individuals with different genotypes may respond differently to environmental variation. Here, Favé et al. find substantial impacts of different environment exposures on the transcriptome and clinical endophenotypes when controlling for genetic ance
Externí odkaz:
https://doaj.org/article/41fc1f6359a849bfb95ac2841971bf1d
Autor:
Youssef Idaghdour, Alan Hodgkinson
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-12 (2017)
Abstract Background The mitochondrial genome is transcribed as continuous polycistrons of RNA containing multiple genes. As a consequence, post-transcriptional events are critical for the regulation of gene expression and therefore all aspects of mit
Externí odkaz:
https://doaj.org/article/121c1d8dec0846e38104a4342904520b
Autor:
Aminah T Ali, Lena Boehme, Guillermo Carbajosa, Vlad C Seitan, Kerrin S Small, Alan Hodgkinson
Publikováno v:
eLife, Vol 8 (2019)
Mitochondria play important roles in cellular processes and disease, yet little is known about how the transcriptional regime of the mitochondrial genome varies across individuals and tissues. By analyzing >11,000 RNA-sequencing libraries across 36 t
Externí odkaz:
https://doaj.org/article/64a0a455fd144d8183425a122e994942
Autor:
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003815 (2013)
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to expla
Externí odkaz:
https://doaj.org/article/9cc47deb1ace4078a7e93a220fcc9d66
Publikováno v:
PLoS Biology, Vol 7, Iss 2, p e1000027 (2009)
The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides. We investigated whether there is additional variation by testing wh
Externí odkaz:
https://doaj.org/article/4420767a69e24256a6ae80e72a9fac5c