Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Simon C. Lovell"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract The distinctive nature of cancer as a disease prompts an exploration of the special characteristics the genes implicated in cancer exhibit. The identification of cancer-associated genes and their characteristics is crucial to further our und
Externí odkaz:
https://doaj.org/article/14f4cef99e4d4d77b6256feb6099852e
Publikováno v:
Biomolecules, Vol 9, Iss 10, p 612 (2019)
Our previous work with fragment-assembly methods has demonstrated specific deficiencies in conformational sampling behaviour that, when addressed through improved sampling algorithms, can lead to more reliable prediction of tertiary protein structure
Externí odkaz:
https://doaj.org/article/568aaa3f81874cfdb5bd924fc8a873ec
The distinctive nature of cancer as a disease prompts an exploration of the special characteristics the genes implicated in cancer exhibit. The identification of cancer-associated genes and their characteristics is crucial to further our understandin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3cc4e2ddda2dc8a04f18ec3bd156dd7
https://doi.org/10.21203/rs.3.rs-2858983/v1
https://doi.org/10.21203/rs.3.rs-2858983/v1
Autor:
Shalaw R. Sallah, Panagiotis I. Sergouniotis, Claire Hardcastle, Simon Ramsden, Andrew J. Lotery, Nick Lench, Simon C. Lovell, Graeme C.M. Black
Publikováno v:
The Journal of molecular diagnostics : JMD. 24(12)
Small in-frame insertion-deletion (indel) variants are a common form of genomic variation whose impact on rare disease phenotypes has been understudied. The prediction of the pathogenicity of such variants remains challenging. X-linked incomplete con
The identification of genes that may be linked to cancer is of great importance for the discovery of new drug targets. The rate at which cancer genes are being found experimentally is slow, however, due to the complexity of the identification and con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc2150497916066025812e16037a5a07
https://doi.org/10.1101/2021.09.01.458494
https://doi.org/10.1101/2021.09.01.458494
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Autor:
Saskia B. Wortmann, Simon C. Lovell, Antoine H. C. van Kampen, Stefan Kölker, Martin Lowe, Sacha Ferdinandusse, Peter E. Clayton, Angela C. M. Luyf, Ronald J.A. Wanders, Richard C. Rogers, Siddharth Banka, Sara Cuvertino, Kay Metcalfe, Marc Engelen, Martin A. T. Vervaart, Hyung L. Elfrink, Rebecca Yarwood, Mia L. Pras-Raves, John H McDermott, Michel van Weeghel, Deciphering Developmental Disorders Study, Jos P.N. Ruiter, Henk van Lenthe, Marielle Alders, Frédéric M. Vaz
Publikováno v:
Brain
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Brain 142, 3382-3397 (2019)
Mcdermott, J, Metcalfe, K, Banka, S, Cuvertino, S, Clayton, P, Yarwood, R, Lowe, M & Lovell, S 2019, ' Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia ', Brain : a journal of neurology, vol. 142, no. 11, pp. 3382-3397 . https://doi.org/10.1093/brain/awz291
Brain, 142(11), 3382-3397. Oxford University Press
Vaz, McDermott et al. identify variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, in five individuals with a new complex hereditary spastic paraplegia. Functional studies in fibroblasts and a zebrafish model confirm the pathoge
Autor:
Gennadiy Tenin, Christopher Clowes, Kathryn Wolton, Eliska Krejci, Jayne A Wright, Simon C Lovell, David Sedmera, Kathryn E Hentges
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107041 (2014)
The heart is the first organ required to function during embryonic development and is absolutely necessary for embryo survival. Cardiac activity is dependent on both the sinoatrial node (SAN), which is the pacemaker of heart's electrical activity, an
Externí odkaz:
https://doaj.org/article/dd9c4cef52324dfc9d60cfaee582933a
Autor:
Anthony D. Whetton, Adam Stevens, James R Kelly, Stefan Meyer, Terence Garner, John A. Chadwick, Marion Schneider, Simon C. Lovell, Daniel H. Wiseman, Prakrithi Narayanan, Fabio M. R. Amaral, Andrew J.K. Williamson, Roberto Paredes, Andrew Pierce, Bethany Geary, Tim C. P. Somervaille, Olga S. Kustikova, Batool Almarzouq, Stella Pearson, Axel Schambach, Nigel J. Jones
Publikováno v:
Cell Death & Disease
Paredes, R, Kelly, J, Geary, B, Almarzouq, B, Schneider, M, Pearson, S, Narayanan, P, Williamson, A, Lovell, S, Wiseman, D, Chadwick, J, Jones, N J, Kustikova, O, Schambach, A, Garner, T, Amaral, F, Pierce, A, Stevens, A, Somervaille, T, Whetton, A & Meyer, S 2020, ' EVI1-phosphorylation at S436 regulates interactions with CtBP1 and DNMT3A and promotes self-renewal ', Cell Death and Disease, vol. 11, 878 (2020) . https://doi.org/10.1038/s41419-020-03099-0
CELL DEATH & DISEASE
Cell Death and Disease, Vol 11, Iss 10, Pp 1-14 (2020)
Paredes, R, Kelly, J, Geary, B, Almarzouq, B, Schneider, M, Pearson, S, Narayanan, P, Williamson, A, Lovell, S, Wiseman, D, Chadwick, J, Jones, N J, Kustikova, O, Schambach, A, Garner, T, Amaral, F, Pierce, A, Stevens, A, Somervaille, T, Whetton, A & Meyer, S 2020, ' EVI1-phosphorylation at S436 regulates interactions with CtBP1 and DNMT3A and promotes self-renewal ', Cell Death and Disease, vol. 11, 878 (2020) . https://doi.org/10.1038/s41419-020-03099-0
CELL DEATH & DISEASE
Cell Death and Disease, Vol 11, Iss 10, Pp 1-14 (2020)
The transcriptional regulator EVI1 has an essential role in early development and haematopoiesis. However, acute myeloid leukaemia (AML) driven by aberrantly high EVI1 expression has very poor prognosis. To investigate the effects of post-translation
Autor:
Panagiotis I. Sergouniotis, Graeme C.M. Black, Nicholas Lench, Simon C Ramsden, Simon C. Lovell, Shalaw R. Sallah, Jamie M Ellingford
Publikováno v:
Sallah, S R, Ellingford, J M, Sergouniotis, P I, Ramsden, S C, Lench, N, Lovell, S C & Black, G C 2021, ' Improving the clinical interpretation of missense variants in X linked genes using structural analysis ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107404
BackgroundImproving the clinical interpretation of missense variants can increase the diagnostic yield of genomic testing and lead to personalised management strategies. Currently, due to the imprecision of bioinformatic tools that aim to predict var
Autor:
Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford
Publikováno v:
Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179
Genes, Vol 11, Iss 2, p 179 (2020)
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179
Genes, Vol 11, Iss 2, p 179 (2020)
Inherited eye disorders (IED) are a heterogeneous group of Mendelian conditions that are associated with visual impairment. Although these disorders often exhibit incomplete penetrance and variable expressivity, the scale and mechanisms of these phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331
https://doi.org/10.1101/2020.01.28.915504
https://doi.org/10.1101/2020.01.28.915504