Zobrazeno 1 - 10
of 150
pro vyhledávání: '"David T Bonthron"'
Autor:
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0174264 (2017)
Tubulin alpha 8 (Tuba8) is the most divergent member of the highly conserved alpha tubulin family, and uniquely lacks two key post-translational modification sites. It is abundantly expressed in testis and muscle, with lower levels in the brain. We p
Externí odkaz:
https://doaj.org/article/018e0d0b0c5f4a439d4efb23ef2dfb63
Autor:
Claire E L Smith, Alexia Alexandraki, Sarah F Cordery, Rekha Parmar, David T Bonthron, Elizabeth M A Valleley
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0185678 (2017)
The imprinted gene PLAGL1 is an important regulator of apoptosis and cell cycle arrest. Loss of its expression has been implicated in tumorigenesis in a range of different cancers, and overexpression during fetal development causes transient neonatal
Externí odkaz:
https://doaj.org/article/4c5efe9de045428f9b2d5783e8b068b0
Autor:
Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157075 (2016)
Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular meth
Externí odkaz:
https://doaj.org/article/824d612fa70a4520b39526d2fa623574
Autor:
Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004577 (2014)
Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In humans, defects specifically affecting motile cilia lead to chronic airway infections, infer
Externí odkaz:
https://doaj.org/article/221a47d3cc01479e8e83de40453586ea
Autor:
Ian M Carr, Christine P Diggle, Kamron Khan, Chris Inglehearn, Martin McKibbin, David T Bonthron, Alexander F Markham, Rashida Anwar, Angus Dobbie, Sergio D J Pena, Manir Ali
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43466 (2012)
Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (
Externí odkaz:
https://doaj.org/article/d168e93b68dd4b10b977255d9e742357
Autor:
Kieran Walker, Anoop Mistry, Christopher M. Watson, Fatima Nadat, Eleanor O’Callaghan, Matthew Care, Laura A. Crinnion, Gururaj Arumugakani, David T. Bonthron, Clive Carter, Gina M. Doody, Sinisa Savic
Publikováno v:
Journal of Clinical Immunology.
Background The human CD19 antigen is expressed throughout B cell ontogeny with the exception of neoplastic plasma cells and a subset of normal plasma cells. CD19 plays a role in propagating signals from the B cell receptor and other receptors such as
Publikováno v:
Journal of Medical Genetics. 59:1082-1086
BackgroundThe ever-increasing capacity of short-read sequencing instruments is driving the adoption of whole genome sequencing (WGS) as a universal approach to the diagnosis of rare genetic disorders. However, many challenging genomic regions remain,
Autor:
David T. Bonthron, Rachel Robinson, Rowena E. Mitchell, Christopher M. Watson, Sérgio D.J. Pena, George A. Tanteles, Laura A. Crinnion, Helen Lindsay, Ian M. Carr, Nick Camm, Domhnall J. O' Halloran, Caroline Joyce
Publikováno v:
Laboratory Investigation. 101:442-449
Short-read next generation sequencing (NGS) has become the predominant first-line technique used to diagnose patients with rare genetic conditions. Inherent limitations of short-read technology, notably for the detection and characterization of compl
Autor:
Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Laura A Crinnion, Gururaj Arumugakani, David T Bonthron, Clive Carter, Gina M Doody, Sinisa Savic
Background: The human CD19 antigen is expressed throughout B cell ontogeny with the exception of neoplastic plasma cells and a subset of normal plasma cells. CD19 plays a role in propagating signals from the B cell receptor and other receptors such a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::200c47d012f26e0e9cca3ef1a6ed8394
https://doi.org/10.21203/rs.3.rs-1498757/v1
https://doi.org/10.21203/rs.3.rs-1498757/v1
Autor:
Christopher M. Watson, Ian M. Carr, Sarah Hewitt, David T. Bonthron, Laura A. Crinnion, Julian Adlard, Rachel Robinson, Jennifer Bates, Eamonn Sheridan
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology
The widespread use of genome-wide diagnostic screening methods has greatly increased the frequency with which incidental (but possibly pathogenic) copy number changes affecting single genes are detected. These findings require validation to allow app