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417 results on '"O'Toole, Edel A"'

1. A prenatal skin atlas reveals immune regulation of human skin morphogenesis

Author

Gopee, Nusayhah Hudaa, Winheim, Elena, Olabi, Bayanne, Admane, Chloe, Foster, April Rose, Huang, Ni, Botting, Rachel A., Torabi, Fereshteh, Sumanaweera, Dinithi, Le, Anh Phuong, Kim, Jin, Verger, Luca, Stephenson, Emily, Adão, Diana, Ganier, Clarisse, Gim, Kelly Y., Serdy, Sara A., Deakin, CiCi, Goh, Issac, Steele, Lloyd, Annusver, Karl, Miah, Mohi-Uddin, Tun, Win Min, Moghimi, Pejvak, Kwakwa, Kwasi Amoako, Li, Tong, Basurto Lozada, Daniela, Rumney, Ben, Tudor, Catherine L., Roberts, Kenny, Chipampe, Nana-Jane, Sidhpura, Keval, Englebert, Justin, Jardine, Laura, Reynolds, Gary, Rose, Antony, Rowe, Vicky, Pritchard, Sophie, Mulas, Ilaria, Fletcher, James, Popescu, Dorin-Mirel, Poyner, Elizabeth, Dubois, Anna, Guy, Alyson, Filby, Andrew, Lisgo, Steven, Barker, Roger A., Glass, Ian A., Park, Jong-Eun, Vento-Tormo, Roser, Nikolova, Marina Tsvetomilova, He, Peng, Lawrence, John E. G., Moore, Josh, Ballereau, Stephane, Hale, Christine B., Shanmugiah, Vijaya, Horsfall, David, Rajan, Neil, McGrath, John A., O’Toole, Edel A., Treutlein, Barbara, Bayraktar, Omer, Kasper, Maria, Progatzky, Fränze, Mazin, Pavel, Lee, Jiyoon, Gambardella, Laure, Koehler, Karl R., Teichmann, Sarah A., and Haniffa, Muzlifah

Published
2024
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14. Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study

Author

Papanikolaou, Marieta, primary, Nattkemper, Leigh, additional, Benzian-Olsson, Natashia, additional, Liu, Lu, additional, Guy, Alyson, additional, Lu, Han, additional, Kadiyirire, Tendai, additional, Hou, Ping-Chen, additional, Aala, Wilson, additional, Serrano, Sonia, additional, Pramanik, Rashida, additional, Walters, Nina, additional, Dimitrakopoulou, Konstantina, additional, Lwin, Su, additional, Kalfas, Emily, additional, Satoc, Jose, additional, Laddach, Roman, additional, Cozzetto, Domenico, additional, Thomas, Bjorn, additional, Kesidou, Evangelia, additional, Rashidghamat, Ellie, additional, Orchard, Guy, additional, O'Toole, Edel A., additional, Hsu, Chao-Kai, additional, Saqi, Mansoor, additional, Steinhoff, Martin, additional, Onoufriadis, Alexandros, additional, Yosipovitch, Gil, additional, Gould, Hannah, additional, Mellerio, Jemima E., additional, and McGrath, John A., additional

Published
2024
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16. Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Author

Clowes, Virginia, Ma, Xiaolun, Maude, Hannah, Dennis, Catherine, Gao, Qing, Quinn, Geraldine, O'Toole, Edel A., Batta, Kapila, Cebola, Inês, Cui, Wei, and Aziz, Aziz ur Rehman

Abstract

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder characterized by reduced or absent hair and dystrophic nails. PHNED is caused by pathogenic variants in genes involved in hair and nail development, including HOXC13. Previously reported biallelic HOXC13 pathogenic variants led to PHNED by either disrupting protein expression through nonsense‐mediated decay or altering the DNA‐binding affinity of the homeobox domain of HOXC13. Here, we report a case of HOXC13‐related PHNED with a rare homozygous variant, c.931C>T, p.Arg311Trp. Similarly to previously reported missense variants, p.Arg311Trp resides in the homeobox domain of HOXC13 and was assumed to lead to the decreased transcriptional activity of target genes. However, in contrast with previously reported variants, in vitro overexpression assays revealed that the p.Arg311Trp variant decreases HOXC13 protein stability, which is corroborated by a series of in silico predictions. Computational models further suggest that p.Arg311Trp results in a structural rearrangement with loss of interhelical connection between Arg311 in α‐helix 3 and Glu276 in α‐helix 1. Altogether, our results suggest a novel molecular mechanism causative of PHNED, whereby biallelic pathogenic variants in HOXC13 may result in decreased protein stability and consequently decreased transcriptional activity of target genes essential for hair and nail development. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Author

Cipriani, Valentina, primary, Vestito, Letizia, additional, Magavern, Emma F, additional, Jacobsen, Julius OB, additional, Arno, Gavin, additional, Behr, Elijah R, additional, Benson, Katherine A, additional, Bertoli, Marta, additional, Bockenhauer, Detlef, additional, Bowl, Michael R, additional, Burley, Kate, additional, Chan, Li F, additional, Chinnery, Patrick, additional, Conlon, Peter, additional, Costa, Marcos, additional, Davidson, Alice E, additional, Dawson, Sally J, additional, Elhassan, Elhussein, additional, Flanagan, Sarah E, additional, Futema, Marta, additional, Gale, Daniel P, additional, García-Ruiz, Sonia, additional, Corcia, Cecilia Gonzalez, additional, Griffin, Helen R, additional, Hambleton, Sophie, additional, Hicks, Amy R, additional, Houlden, Henry, additional, Houlston, Richard S, additional, Howles, Sarah A, additional, Kleta, Robert, additional, Lekkerkerker, Iris, additional, Lin, Siying, additional, Liskova, Petra, additional, Mitchison, Hannah, additional, Morsy, Heba, additional, Mumford, Andrew D, additional, Newman, William G, additional, Neatu, Ruxandra, additional, O’Toole, Edel A, additional, Ong, Albert CM, additional, Pagnamenta, Alistair T, additional, Rahman, Shamima, additional, Rajan, Neil, additional, Robinson, Peter N, additional, Ryten, Mina, additional, Sadeghi-Alavijeh, Omid, additional, Sayer, John A, additional, Shovlin, Claire L, additional, Taylor, Jenny C, additional, Teltsh, Omri, additional, Tomlinson, Ian, additional, Tucci, Arianna, additional, Turnbull, Clare, additional, van Eerde, Albertien M, additional, Ware, James S, additional, Watts, Laura M, additional, Webster, Andrew R, additional, Westbury, Sarah K, additional, Zheng, Sean L, additional, Caulfield, Mark, additional, and Smedley, Damian, additional

Published
2023
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21. 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

Author

Enjalbert, Florence, Dewan, Priya, Caley, Matthew P., Jones, Eleri M., Morse, Mary A., Kelsell, David P., Enright, Anton J., and O'Toole, Edel A.

Subjects
Thermo Fisher Scientific Inc., Cytokines -- Genetic aspects -- Health aspects -- Analysis, Nitric oxide -- Health aspects -- Analysis, Tofacitinib -- Analysis -- Health aspects, Skin -- Analysis -- Genetic aspects -- Health aspects, RNA sequencing -- Genetic aspects -- Analysis -- Health aspects, RNA -- Analysis -- Genetic aspects -- Health aspects, Scientific equipment industry -- Genetic aspects -- Analysis -- Health aspects, Ichthyosis -- Genetic aspects, Health care industry
Abstract

The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. We sought to investigate pathomechanisms of HI that could lead to the identification of new treatments for improving patients' quality of life. In this study, RNA-Seq and functional assays were performed to define the effects of loss of ABCA12 using HI patient skin samples and an engineered CRISPR/Cas9 ABCA12 KO cell line. The HI living skin equivalent (3D model) recapitulated the HI skin phenotype. The cytokines IL-36[alpha] and IL-36[gamma] were upregulated in HI skin, whereas the innate immune inhibitor IL-37 was strongly downregulated. We also identified STAT1 and its downstream target inducible nitric oxide synthase (NOS2) as being upregulated in the in vitro HI 3D model and HI patient skin samples. Inhibition of NOS2 using the inhibitor 1400W or the JAK inhibitor tofacitinib dramatically improved the in vitro HI phenotype by restoring the lipid barrier in the HI 3D model. Our study has identified dysregulated pathways in HI skin that are feasible therapeutic targets., Introduction Harlequin ichthyosis (HI) (OMIM 242500) is the most severe and an often lethal form of the autosomal recessive congenital ichthyoses (1), a group of disorders with 2 other main [...]

Published
2020
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23. A human prenatal skin cell atlas reveals immune cell regulation of skin morphogenesis

Author

Gopee, Nusayhah Hudaa, primary, Huang, Ni, additional, Olabi, Bayanne, additional, Admane, Chloe, additional, Botting, Rachel A, additional, Foster, April Rose, additional, Torabi, Fereshteh, additional, Winheim, Elena, additional, Sumanaweera, Dinithi N, additional, Goh, Issac, additional, Miah, Mohi, additional, Stephenson, Emily, additional, Tun, Win Min, additional, Moghimi, Pejvak, additional, Rumney, Ben, additional, He, Peng, additional, Lawrence, Sid, additional, Roberts, Kenny, additional, Sidhpura, Keval, additional, Englebert, Justin, additional, Jardine, Laura, additional, Reynolds, Gary, additional, Rose, Antony, additional, Ganier, Clarisse, additional, Rowe, Vicky, additional, Pritchard, Sophie, additional, Mulas, Ilaria, additional, Fletcher, James, additional, Popescu, Dorin-Mirel, additional, Poyner, Elizabeth FM, additional, Dubois, Anna, additional, Filby, Andrew, additional, Lisgo, Steven, additional, Barker, Roger A, additional, PARK, JONG-EUN, additional, Vento-Tormo, Roser, additional, Le, Phuong Ahn, additional, Serdy, Sara, additional, Kim, Jin, additional, Deakin, CiCi, additional, Lee, Jiyoon, additional, Nikolova, Marina T, additional, Rajan, Neil, additional, Ballereau, Stephane, additional, Li, Tong, additional, Moore, Josh, additional, Horsfall, David, additional, Basurto Lozada, Daniela, additional, O'Toole, Edel A, additional, Treutlein, Barbara, additional, Bayraktar, Omer, additional, Kasper, Maria, additional, Mazin, Pavel, additional, Gambardella, Laure, additional, Koehler, Karl, additional, Teichmann, Sarah, additional, and Haniffa, Muzlifah, additional

Published
2023
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26. A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

Author

McCarthy, Rebecca L, Schwartz, Janice, Oldham, Jaimie, Bodemer, Christine, Greco, Celine, Hovnanian, Alain, Hansen, C  David, and O'Toole, Edel A

Subjects
ECTODERMAL dysplasia, CROSS-sectional method, EPIDERMAL growth factor receptors
Abstract

This article presents the findings of a study that investigated the prevalence and genetic predictors of erythromelalgia in individuals with pachyonychia congenita (PC), a rare genetic disorder. The study involved sending an online survey to participants enrolled in the International Pachyonychia Congenita Research Registry (IPCRR) and analyzing their responses. The results showed that approximately 23% of participants met the diagnostic criteria for erythromelalgia, a condition characterized by burning pain and redness in the extremities. There was no association found between the presence of erythromelalgia and the specific genotype of PC. Participants with higher erythromelalgia scores reported higher levels of pain and experienced greater difficulty with daily activities. The study suggests that further understanding of erythromelalgia in PC may contribute to the development of effective treatments. However, the study acknowledges limitations such as incomplete response rates and small sample sizes in certain subgroups. [Extracted from the article]

Published
2024
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34. Supplementary Figure 1 Legend: Early cutaneous invasion of WM35 melanoma cells in full-thickness human skin equivalents results in disruption of basement membrane component type IV collagen from A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion

Author

Hill, David S., primary, Robinson, Neil D.P., primary, Caley, Matthew P., primary, Chen, Mei, primary, O'Toole, Edel A., primary, Armstrong, Jane L., primary, Przyborski, Stefan, primary, and Lovat, Penny E., primary

Published
2023
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36. Supplementary Figure 1: Early cutaneous invasion of WM35 melanoma cells in full-thickness human skin equivalents results in disruption of basement membrane component type IV collagen from A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion

Author

Hill, David S., primary, Robinson, Neil D.P., primary, Caley, Matthew P., primary, Chen, Mei, primary, O'Toole, Edel A., primary, Armstrong, Jane L., primary, Przyborski, Stefan, primary, and Lovat, Penny E., primary

Published
2023
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38. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Author

Genetica Groep Van Tintelen, Genetica Klinische Genetica, Cancer, Child Health, Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, Smedley, Damian, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Cancer, Child Health, Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, and Smedley, Damian

Published
2023

39. Deep palmar phenotyping in atopic eczema: patterns associated with Filaggrin variants, disease severity and barrier function in a South Asian population

Author

Thomas, Bjorn R, primary, Tan, Xiang Li, additional, Van Duijvenboden, Stefan, additional, Hogan, Sarah C, additional, Hughes, Aaron J, additional, Tawfik, Soha S, additional, Dhoat, Sasha, additional, Atkar, Ravinder, additional, Robinson, Elizabeth J, additional, Rahman, Syedia R, additional, Rahman, Samiha, additional, Ahmed, Rehana A, additional, Begum, Rubina, additional, Khanam, Habiba, additional, Bourne, Emma L, additional, Wozniak, Eva L, additional, Mein, Charles A, additional, Kelsell, David P, additional, and O’Toole, Edel A, additional

Published
2023
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44. Mainstreaming genetic testing in dermatology in the UK.

Author

O'Connor, Cathal, Passby, Lauren, Fields, Carly, McGrath, John, O'Toole, Edel A, and Rajan, Neil

Subjects
MEDICAL personnel, GENETIC testing, PROFESSIONAL licenses, DELAYED diagnosis, MEDICAL registries, SKIN cancer
Abstract

The article "Mainstreaming genetic testing in dermatology in the UK" discusses the prevalence of rare skin diseases globally, emphasizing the importance of genetic testing in diagnosing and treating these conditions. It highlights the role of dermatologists in providing molecular diagnostics and improving patient outcomes through early and accurate diagnosis. The mainstreaming of genetic testing not only benefits patients with genetic skin diseases but also contributes to filling gaps in rare disease services, promoting awareness among healthcare professionals, and facilitating research opportunities. [Extracted from the article]

Published
2024
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