Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Nikki Hall"'
Autor:
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Publikováno v:
Molecular Systems Biology, Vol 20, Iss 7, Pp 825-844 (2024)
Abstract Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combine
Externí odkaz:
https://doaj.org/article/46f6b432ee554b1bbff01429fb10cdbb
Autor:
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (wit
Externí odkaz:
https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b
Publikováno v:
Burgess, F R, Hall, H N & Megaw, R 2022, ' Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease ', Asia-Pacific Journal of Ophthalmology, vol. 11, no. 4, pp. 380-391 . https://doi.org/10.1097/APO.0000000000000545
Genetic eye diseases, representing a wide spectrum of simple and complex conditions, are one of the leading causes of visual loss in children and working adults, and progress in the field has led to changes in disease investigation, diagnosis, and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::136497eb01afb9686a8f243637250929
https://www.pure.ed.ac.uk/ws/files/344781639/Emerging_Gene_Manipulation_Strategies_for_the.9.pdf
https://www.pure.ed.ac.uk/ws/files/344781639/Emerging_Gene_Manipulation_Strategies_for_the.9.pdf
Autor:
Vladana Vukojević, Hildegard Nikki Hall, Ana Lima, Kassiani Skouloudaki, Dimitrios K. Papadopoulos, Julia M. T. Auer, Ioannis Christodoulou, Jack J. Stoddart
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 12 (2020)
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms
article-version (VoR) Version of Record
Transcription factors (TFs) are life-sustaining and, therefore, the subject of intensive research. By regulating gene expression, TFs control a plethora of developmental and physiological processes, and their abnormal function commonly leads to vario
Autor:
Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas
Publikováno v:
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in Medicine
Genetics in medicine
Genetics in Medicine
Genetics in medicine
Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdf
Autor:
Ken L Lai, Paul J. Foster, Augusto Azuara-Blanco, Kamran Khan, Paul Y Chua, Nikki Hall, Alexander C Day, Lai L Tan, Lik Thai Lim, Barny Foot
Publikováno v:
Chua, P Y, Day, A C, Lai, K, Hall, N, Tan, L, Khan, K, Lim, L T, Foot, B, Foster, P & Azuara-Blanco, A 2017, ' The incidence of acute angle closure in Scotland: a prospective surveillance study ', British Journal of Ophthalmology, pp. 1-5 . https://doi.org/10.1136/bjophthalmol-2017-310725
Chua, P Y, Day, A C, Lai, K L, Hall, N, Tan, L L, Khan, K, Lim, L T, Foot, B, Foster, P J & Azuara-Blanco, A 2017, ' The incidence of acute angle closure in Scotland : a prospective surveillance study ', British Journal of Ophthalmology . https://doi.org/10.1136/bjophthalmol-2017-310725
Chua, P Y, Day, A C, Lai, K L, Hall, N, Tan, L L, Khan, K, Lim, L T, Foot, B, Foster, P J & Azuara-Blanco, A 2017, ' The incidence of acute angle closure in Scotland : a prospective surveillance study ', British Journal of Ophthalmology . https://doi.org/10.1136/bjophthalmol-2017-310725
PurposeTo estimate the incidence, and describe the clinical features and short-term clinical outcomes of acute angle closure (AAC).MethodsPatients with newly diagnosed AAC were identified prospectively over a 12-month period (November 2011 to October
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4defe5536239bf3f04afc9da9fc5522b
https://pure.qub.ac.uk/en/publications/the-incidence-of-acute-angle-closure-in-scotland-a-prospective-surveillance-study(88cd1fe7-90c5-4850-adce-ce439875aad4).html
https://pure.qub.ac.uk/en/publications/the-incidence-of-acute-angle-closure-in-scotland-a-prospective-surveillance-study(88cd1fe7-90c5-4850-adce-ce439875aad4).html
Publikováno v:
The British journal of ophthalmology. 102(9)
Background/AimsThis study quantifies the threat to vision and the survival in patients presenting with peripheral ulcerative keratopathy (PUK) corneal perforation associated with rheumatoid arthritis (RA) in the UK.MethodsNew cases of corneal perfora
Publikováno v:
Asia-Pacific Journal of Ophthalmology.
Ophthalmology departments face intensifying pressure to expedite sight-saving treatments and reduce the global burden of disease. The use of electronic communication systems, digital imaging, and redesigned service care models is imperative for addre
Publikováno v:
Drug Testing and Analysis. 6:985-995
The growth hormone releasing peptides (GHRPs) hexarelin, ipamorelin, alexamorelin, GHRP-1, GHRP-2, GHRP-4, GHRP-5, and GHRP-6 are all synthetic met-enkephalin analogues that include unnatural D-amino acids. They were designed specifically for their a
Autor:
Zeshan Qureshi, Constantinos A. Parisinos, H. Nikki Hall, Michael Ross, Mark Rodrigues, Simon Maxwell
Publikováno v:
The Clinical Teacher. 10:118-123
Summary Background: There are increasing opportunities for junior doctors to deliver teaching as well as formally develop teaching skills. Near-peer teaching (NPT) programmes, like that established in South-East Scotland, not only provide additional