Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Edel A, O'Toole"'
Autor:
Cristina Tommasi, Ohad Yogev, Michael B. Yee, Andriani Drousioti, Meleri Jones, Alice Ring, Manuraj Singh, Inga Dry, Oscar Atkins, Aishath S. Naeem, Nisha Kriplani, Arne N. Akbar, Jürgen G. Haas, Edel A. O’Toole, Paul R. Kinchington, Judith Breuer
Publikováno v:
Virology Journal, Vol 21, Iss 1, Pp 1-11 (2024)
Abstract Varicella-zoster virus (VZV) is the etiological agent of chickenpox and shingles, diseases characterised by epidermal virus replication in skin and mucosa and the formation of blisters. We have previously shown that VZV infection has a profo
Externí odkaz:
https://doaj.org/article/09112decde4b4fc2923182d25e256520
Autor:
Avinaash V. Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi, Frances Elmslie, Anni Joensuu, Katri Kantojärvi, Raina Y. Jia, John R. B. Perry, Edel A. O’Toole, Liam J. McGuffin, Vivian Hwa, Helen L. Storr
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Postnatal growth failure is often attributed to dysregulated somatotropin action, however marked genetic and phenotypic heterogeneity exist. We report five patients from three families who present with short stature, immune dysfunction, atop
Externí odkaz:
https://doaj.org/article/b7bd35352d084070b84fa76be410b49c
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectivesTo explore the demographic and clinical profile of erosive lichen planus (ELP) across multiple ethnicities within a single cohort, deepening our understanding of disease severity, progression and outcomes.MethodsA longitudinal retrospective
Externí odkaz:
https://doaj.org/article/8c5cb0d57c5e48d19d6b88d027eb44bd
Autor:
Rebecca L. McCarthy, Jaimie Oldham, Elsa Barbosa, Catriona Sinclair, Malvina Cunningham, Edel A. O’Toole
Publikováno v:
Skin Health and Disease, Vol 4, Iss 4, Pp n/a-n/a (2024)
Abstract Pityriasis rubra pilaris (PRP) is a rare skin disease which manifests as a psoriasiform dermatosis and palmoplantar keratoderma and has significant clinical‐histopathological overlap with psoriasis. Recently, several case reports have demo
Externí odkaz:
https://doaj.org/article/e9b55ccedfa14498a9cf9ddf06aeeae8
Autor:
Rebecca L. McCarthy, Soha S. Tawfik, Ioannis Theocharopoulos, Ravinder Atkar, Bryan McDonald, Sasha Dhoat, Aaron Hughes, Bjorn R. Thomas, Edel A. O’Toole
Publikováno v:
Skin Health and Disease, Vol 4, Iss 3, Pp n/a-n/a (2024)
Abstract Background Atopic eczema is a common, chronic, inflammatory skin condition with considerable heterogeneity. South Asian people living in the UK frequently have low serum vitamin D3 (25(OH)D3), and those with atopic disease can present with s
Externí odkaz:
https://doaj.org/article/bbd84909b8044484bff134894e043519
Autor:
Farrell McGeoghan, Emanuela Camera, Miriam Maiellaro, Manasi Menon, Mei Huang, Priya Dewan, Stela Ziaj, Matthew P. Caley, Michael Donaldson, Anton J. Enright, Edel A. O’Toole
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol sulfate retention and the m
Externí odkaz:
https://doaj.org/article/4a580053eca44326b65abc4874334a8f
Autor:
Christopher J. Smith, Jack L. Williams, Charlotte Hall, Josefina Casas, Matthew P. Caley, Edel A. O'Toole, Rathi Prasad, Louise A. Metherell
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 4, Pp 100351- (2023)
Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis. Where a skin phenotype is reported, 94% h
Externí odkaz:
https://doaj.org/article/01cd6b1dd195439f8ae8fbe1c06fdf2f
Autor:
Bjorn R. Thomas, Xiang L. Tan, Shagayegh Javadzadeh, Elizabeth J. Robinson, Bryan S. McDonald, Malvina A. Krupiczojc, Syedia R. Rahman, Samiha Rahman, Rehana A. Ahmed, Rubina Begum, Habiba Khanam, David P. Kelsell, Jonathan Grigg, Robert J. Knell, Edel A. O’Toole
Publikováno v:
JID Innovations, Vol 2, Iss 1, Pp 100062- (2022)
Atopic eczema is a common and complex disease. Missing genetic hereditability and increasing prevalence in industrializing nations point toward an environmental driver. We investigated the temporal association of weather and pollution parameters with
Externí odkaz:
https://doaj.org/article/fd950e63ed2f41b484e5167f6f99ff72
Autor:
Bjorn R Thomas, Xiang Li Tan, Stefan Van Duijvenboden, Sarah C Hogan, Aaron J Hughes, Soha S Tawfik, Sasha Dhoat, Ravinder Atkar, Elizabeth J Robinson, Syedia R Rahman, Samiha Rahman, Rehana A Ahmed, Rubina Begum, Habiba Khanam, Emma L Bourne, Eva L Wozniak, Charles A Mein, David P Kelsell, Edel A O’Toole
Publikováno v:
British Journal of Dermatology. 188:785-792
Background Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG). Objectives To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and invest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc6ad6270e880c510f72f2d0b25b2bf3
https://doi.org/10.1093/bjd/ljad036
https://doi.org/10.1093/bjd/ljad036
Autor:
Bjorn R. Thomas, Edel A. O'Toole
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 7, p adv00094 (2020)
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into
Externí odkaz:
https://doaj.org/article/2bd9b66c72e7496ea14c6fdd85f2b63a