Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stuart Gillies"'
Autor:
Ekaterina Lyulcheva-Bennett, Christopher Kershaw, Eleanor Baker, Stuart Gillies, Emma McCarthy, Jenny Higgs, Natalie Canham, Dawn Hennigan, Chris Parks, Daimark Bennett
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation fa
Externí odkaz:
https://doaj.org/article/15137c719b3445fdbc2c85f9d607d4c0
Autor:
Kristiina Avela, Kristiina Aittomäki, Stephanie Barton, Liina Kuuluvainen, Sanna Seitsonen, Eeva-Marja Sankila, Stuart Gillies
Publikováno v:
Acta Ophthalmologica. 96:183-191
Purpose To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. Methods A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. Results The overall diagnostic yi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a40cb6d6c4d77479bd66f4a257f6ce
https://doi.org/10.1111/aos.13551
https://doi.org/10.1111/aos.13551
Autor:
Gregory M. Jacobson, John P. Quinn, Bengt von Mentzer, Kate Haddley, Stuart Gillies, Vivien J. Bubb, Sylvia A. Vasiliou
Publikováno v:
Journal of Molecular Neuroscience. 44:77-90
Neuron-restrictive silencer factor (NRSF) and its isoforms are differentially regulated in rodent models of self-sustaining status epilepticus (SSSE). NRSF isoforms regulate genes associated with SSSE, including the proconvulsant tachykinins, brain-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb7136f1b4636641f82543507f33cc3
https://doi.org/10.1007/s12031-010-9420-3
https://doi.org/10.1007/s12031-010-9420-3
Autophagy and Related processes in Trypanosomatids: Insights from Genomic and Bioinformatic Analyses
Publikováno v:
Autophagy. 2:107-118
The targeting in eukaryotic cells of cellular components to the lysosome or vacuole for degradation is called autophagy. Not only cytoplasmic macromolecules and bulk cytoplasm are subject to this process; entire organelles such as peroxisomes can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e3a486d739d41763b5f207fdc1b9ea
https://doi.org/10.4161/auto.2.2.2369
https://doi.org/10.4161/auto.2.2.2369
Publikováno v:
Neuropeptides. 43(4)
We have previously shown that one of the major determinants directing the expression of the preprotachykinin-A (TAC1) gene, which encodes the neuropeptide substance P, is the transcription factor Neuronal Restrictive Silencer Factor (NSRF), which is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bdff843e9b9f8db6d941d5fd0a39cee
https://pubmed.ncbi.nlm.nih.gov/19539370
https://pubmed.ncbi.nlm.nih.gov/19539370
Autor:
Christopher Thorne, Heidi K. Baumgartner, Alexei V. Tepikin, Michael Chvanov, Robert Sutton, Stuart Gillies, Julia Vladimirovna Gerasimenko, Alastair J.M. Watson, Oleg Vsevolodovich Gerasimenko, David N. Criddle, Stephanie L. Barrow, Louise H. Ashurst, Ole H. Petersen
Publikováno v:
American journal of physiology. Gastrointestinal and liver physiology. 293(1)
Cell-death programs executed in the pancreas under pathological conditions remain largely undetermined, although the severity of experimental pancreatitis has been found to depend on the ratio of apoptosis to necrosis. We have defined mechanisms by w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62d5e83fba5a549944464710e425780
https://pubmed.ncbi.nlm.nih.gov/17431216
https://pubmed.ncbi.nlm.nih.gov/17431216
Autor:
Stephanie L. Barrow, Alexei V. Tepikin, Robert Sutton, Dabid N. Criddle, Ole H. Petersen, Michael Chvanov, Oleg Vsevolodovich Gerasimenko, Stuart Gillies, Sarah Passmore, Mohammed Jaffar, Heidi K. Baumgartner-Wilson, E Chinje
Publikováno v:
The Journal of biological chemistry. 281(52)
Oxidative stress may be an important determinant of the severity of acute pancreatitis. One-electron reduction of oxidants generates reactive oxygen species (ROS) via redox cycling, whereas two-electron detoxification, e.g. by NAD(P)H:quinone oxidore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972b3d7d43d565517f64dd52f36a4535
https://pubmed.ncbi.nlm.nih.gov/17088248
https://pubmed.ncbi.nlm.nih.gov/17088248