Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Rachel Knox"'
Publikováno v:
Animals, Vol 12, Iss 19, p 2602 (2022)
People who work with cattle are at severe risk of serious injury due to the size and strength of the cattle. This risk can be minimised by breeding less dangerous cattle, which have a more favourable reaction to humans. This study provides a systemat
Externí odkaz:
https://doaj.org/article/1f1bfbf539dd446bb68df9100b67cd64
Autor:
Frances Margaret Titterington, Rachel Knox, Stephanie Buijs, Denise Elizabeth Lowe, Steven James Morrison, Francis Owen Lively, Masoud Shirali
Publikováno v:
Animals, Vol 12, Iss 6, p 776 (2022)
Cattle production necessitates potentially dangerous human–animal interactions. Cattle are physically strong, large animals that can inflict injuries on humans accidentally or through aggressive behaviour. This study provides a systematic review of
Externí odkaz:
https://doaj.org/article/ace723eed3164a978598ac64f09d8942
Autor:
Albert Kwok, Ilona Zvetkova, Sam Virtue, Ineke Luijten, Isabel Huang-Doran, Patsy Tomlinson, David A. Bulger, James West, Steven Murfitt, Julian Griffin, Rafeah Alam, Daniel Hart, Rachel Knox, Peter Voshol, Antonio Vidal-Puig, Jørgen Jensen, Stephen O'Rahilly, Robert K. Semple
Publikováno v:
Molecular Metabolism, Vol 40, Iss , Pp 101020- (2020)
Objective: Insulin signalling via phosphoinositide 3-kinase (PI3K) requires PIK3R1-encoded regulatory subunits. C-terminal PIK3R1 mutations cause SHORT syndrome, as well as lipodystrophy and insulin resistance (IR), surprisingly without fatty liver o
Externí odkaz:
https://doaj.org/article/82f6d95279d840059ee0a0ab5c79af2b
Autor:
Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O’Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
Publikováno v:
eLife, Vol 6 (2017)
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg7
Externí odkaz:
https://doaj.org/article/bd9713c499934b789398647d22d67ee5
Publikováno v:
Animals : an open access journal from MDPI. 12(19)
People who work with cattle are at severe risk of serious injury due to the size and strength of the cattle. This risk can be minimised by breeding less dangerous cattle, which have a more favourable reaction to humans. This study provides a systemat
Autor:
Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams
Publikováno v:
Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Genetics
American Journal of Human Genetics
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5251341d775fe05227776575d532ec23
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5
Autor:
Douglas J Kelly, David M. Love, Barnaby Balmforth, Tim J Puchtler, Ana-Luisa Silva, Rachel Knox, Magdalena Stolarek, James Bush, Aya Shibahara, Richard J Ingham, Cameron Alexander Frayling, Jekaterina Kuleshova, Palmer Rebecca, Alexander Dunning, Lindsey A Ibbotson, Paulina Klaudyna Powalowska, Emma L Talbot, Justyna M Mordaka, Tom H Isaac, Podd Gareth, Maciej Sosna, Aurel Negrea, Paul H. Dear, Kerr Johnson, Mei Wu, Michael Haggis-Powell, Ibrahim S Topkaya, Thomas Huckvale, Boris Breiner, Andreas M Waeber, Evangelia-Nefeli Athanasopoulou, Oliver J Newell, Cunha Pedro, Jasmin Chana, Justinas Šlikas, Neil M. Bell, Christina Xyrafaki, Mark Dethlefsen
Publikováno v:
Nucleic Acids Research
Despite remarkable progress in DNA sequencing technologies there remains a trade-off between short-read platforms, having limited ability to sequence homopolymers, repeated motifs or long-range structural variation, and long-read platforms, which ten
Autor:
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A. Andrews, Paulina Stadnik, Agnel P. Joseph, Rachel Knox, Alan Pittman, Graeme Clark, William Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan M. Huson, Thomas S. Jacques, Gregory James, Hannah Kondolf, Loshan Kangesu, Kim M. Keppler-Noreuil, Amjad Khan, Marjorie J. Lindhurst, Mark Lipson, Sahar Mansour
Publikováno v:
Journal of Clinical Investigation
Autor:
Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McC
Publikováno v:
The American Journal of Human Genetics
Autor:
Stephen J. Powers, Sharad Mohan, Keith G. Davies, Tim H. Mauchline, Rachel Knox, Penny R. Hirsch, Brian R. Kerry
Publikováno v:
Applied and Environmental Microbiology. 77:6388-6394
Protein-encoding and 16S rRNA genes of Pasteuria penetrans populations from a wide range of geographic locations were examined. Most interpopulation single nucleotide polymorphisms (SNPs) were detected in the 16S rRNA gene. However, in order to fully