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Ebun Omoyinmi
Researcher at UCL Institute of Child Health
Publications - 53
Citations - 1397
Ebun Omoyinmi is an academic researcher from UCL Institute of Child Health. The author has contributed to research in topics: Vasculitis & Medicine. The author has an hindex of 15, co-authored 47 publications receiving 994 citations. Previous affiliations of Ebun Omoyinmi include Great Ormond Street Hospital for Children NHS Foundation Trust & Great Ormond Street Hospital.
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Journal ArticleDOI
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
Anja Brehm,Yin Liu,Afzal Sheikh,Bernadette Marrero,Ebun Omoyinmi,Qing Zhou,G Montealegre,Angelique Biancotto,Adam L Reinhardt,Adriana Almeida de Jesus,Martin Pelletier,Wanxia L. Tsai,Elaine F. Remmers,Lela Kardava,Suvimol Hill,Hanna Kim,Helen J. Lachmann,André Mégarbané,Jae Jin Chae,Jilian Brady,Rhina D. Castillo,Diane E. Brown,Angel Vera Casano,Ling Gao,Dawn Chapelle,Yan Huang,Deborah L. Stone,Yongqing Chen,Franziska Sotzny,Chyi-Chia Richard Lee,Daniel L. Kastner,Antonio Torrelo,Abraham Zlotogorski,Susan Moir,Massimo Gadina,Phil McCoy,Robert Wesley,Kristina I. Rother,Peter W. Hildebrand,Paul A. Brogan,Elke Krüger,Ivona Aksentijevich,Raphaela Goldbach-Mansky +42 more
TL;DR: Function evaluation revealed that these mutations variably affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteAsome activity, and defects in proteasomesome formation and function were recapitulated by siRNA-mediated knockdown of the respective subunits in primary fibroblasts from healthy individuals.
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Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases
Sira Nanthapisal,Claire Murphy,Ebun Omoyinmi,Ying Hong,Ariane Standing,Stefan Berg,Maria Ekelund,Stephen Jolles,Lorraine Harper,Taryn Youngstein,Kimberly Gilmour,Nigel Klein,Despina Eleftheriou,Paul A. Brogan +13 more
TL;DR: The clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency are described.
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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
Ariane Standing,Ariane Standing,Dessislava Malinova,Ying Hong,Julien Record,Dale Moulding,Michael P. Blundell,Karolin Nowak,Hannah E. Jones,Ebun Omoyinmi,Kimberly Gilmour,Alan Medlar,Horia Stanescu,Robert Kleta,Robert Kleta,Glenn Anderson,Sira Nanthapisal,Sonia Melo Gomes,Nigel Klein,Despina Eleftheriou,Adrian J. Thrasher,Paul A. Brogan +21 more
TL;DR: The findings from the mouse model are extended to highlight the importance of WDR1 and actin regulation in the activation of the inflammasome, and in human autoinflammation.
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Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Dorota Rowczenio,Sonia Melo Gomes,Juan I. Aróstegui,Anna Mensa-Vilaro,Ebun Omoyinmi,H Trojer,Anna Baginska,Alberto Baroja-Mazo,Pablo Pelegrín,Sinisa Savic,Thirusha Lane,Rene Williams,Paul A. Brogan,Helen J. Lachmann,Philip N. Hawkins +14 more
TL;DR: Clinical and laboratory findings in eight British adult patients who presented with symptoms typical of CAPS other than an onset in mid-late adulthood suggest acquired NLRP3 mutations may not be an uncommon cause of the syndrome and should be sought in all patients with late-onset symptoms otherwise compatible with CAPS.
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Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Dorota Rowczenio,Shelly Pathak,Shelly Pathak,Juan I. Aróstegui,Anna Mensa-Vilaro,Ebun Omoyinmi,Paul A. Brogan,Dan Lipsker,T. Scambler,T. Scambler,Roger G. Owen,H Trojer,Anna Baginska,Julian D. Gillmore,Ashutosh D. Wechalekar,Thirusha Lane,Rene Williams,Taryn Youngstein,Philip N. Hawkins,Sinisa Savic,Sinisa Savic,Helen J. Lachmann +21 more
TL;DR: The findings do not support a role for somatic NLRP3 mosaicism in disease pathogenesis; although elevated levels of ASC, IL-6, and IL-18 in patients' serum, and the response to anakinra, suggest that Schnitzler syndrome is associated with upregulated inflammasome activation.