Multi-organ functions of yolk sac during human early development

Autor: Rachel A Botting, Issac Goh, Antony Rose, Simone Webb, Justin Engelbert, Yorick Gitton, Emily Stephenson, Mariana Quiroga Londoño, Michael Mather, Nicole Mende, Ivan Imaz-Rosshandler, Dave Horsfall, Daniela Basurto-Lozada, Nana-Jane Chipampe, Victoria Rook, Pavel Mazin, MS Vijayabaskar, Rebecca Hannah, Laure Gambardella, Kile Green, Stephane Ballereau, Megumi Inoue, Liz Tuck, Valentina Lorenzi, Kwasi Kwakwa, Clara Alsinet, Bayanne Olabi, Mohi Miah, Chloe Admane, Dorin-Mirel Popescu, Meghan Acres, David Dixon, Rowen Coulthard, Steven Lisgo, Deborah J Henderson, Emma Dann, Chenqu Suo, Sarah J Kinston, Jong-eun Park, Krzysztof Polanski, Stijn Van Dongen, Kerstin B Meyer, Marella de Bruijn, James Palis, Sam Behjati, Elisa Laurenti, Nicola K Wilson, Roser Vento-Tormo, Alain Chédotal, Omer Bayraktar, Irene Roberts, Laura Jardine, Berthold Göttgens, Sarah A Teichmann, Muzlifah Haniffa

The yolk sac (YS) represents an evolutionarily-conserved extraembryonic structure that ensures timely delivery of nutritional support and oxygen to the developing embryo. However, the YS remains ill-defined in humans. We therefore assemble a complete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40063609b64ec1d12691d74d2fc5041c
https://doi.org/10.1101/2022.08.03.502475

Blood and immune development in human fetal bone marrow and Down syndrome

Autor: Nicola K. Wilson, Michal Slyper, David Dixon, Gary Reynolds, Emily Stephenson, Berthold Göttgens, Irene Roberts, Petra Balogh, Anindita Roy, Bo Li, Monika S. Kowalczyk, Aviv Regev, Nicole Mende, Hamish W King, Iwo Kucinski, Laura Jardine, Mirjana Efremova, Meghan Acres, Orr Ashenberg, Caroline Shrubsole, Thomas Creasey, Dave Horsfall, Mika Sarkin Jain, Simone Webb, Elizabeth Poyner, Steven Lisgo, Rachel Queen, Kerstin B. Meyer, Kirsty Ambridge, John E. Lawrence, Natalina Elliott, Elena Prigmore, Jaume Bacardit, Rachel A. Botting, Danielle Dionne, Muzlifah Haniffa, Justin Engelbert, Marcin Tabaka, Rafiqul Hussain, Myriam L. R. Haltalli, Christopher D. Carey, Thomas Ness, Bayanne Olabi, Deborah J. Henderson, Daniel Maunder, Elisa Laurenti, Keir Pickard, Orit Rozenblatt-Rosen, Rowen Coulthard, Jim McGrath, Sam Behjati, Issac Goh, David McDonald, Sorcha O’Byrne, Timothy L. Tickle, Emma Dann, Claire G. Jones, Sarah A. Teichmann, Caitlin Murnane, Dorin-Mirel Popescu, Jonathan Coxhead, Mariana Quiroga Londoño, Michael W. Mather, Andrew Filby

Publikováno v: Nature

Haematopoiesis in the bone marrow (BM) maintains blood and immune cell production throughout postnatal life. Haematopoiesis first emerges in human BM at 11–12 weeks after conception1,2, yet almost nothing is known about how fetal BM (FBM) evolves t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616a4b608e777594fb92efca1fe30968
https://doi.org/10.1038/s41586-021-03929-x

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Autor: Sophie Hambleton, Perrine Pennamen, John R. James, Meghan Acres, Wolfram Haller, Anas M. Alazami, Yasuhiro Yamazaki, James Thaventhiran, Jan Sinclair, Yu Zhang, Rainer Doffinger, Helen F. Matthews, David MacDonald, Zinan Zhang, Sophie Naudion, Kenneth G. C. Smith, Fanny Pelluard, Huda Alajlan, Yorgo Modis, Karin R. Engelhardt, Carlos P. Mata, Claire Bowen, Florian Gothe, Caroline Rooryck, Luigi D. Notarangelo, Hamoud Al-Mousa, Michael J. Lenardo

Publikováno v: The Journal of Experimental Medicine

Zhang et al. identify human IL-2Rβ deficiency as a cause of severe immune dysregulation. The hypomorphic gene mutations reveal variable IL-2Rβ expression and function between different lymphocyte subsets as a means of selectively modulating immune

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ddd970c7d05489f1941e7126e17ac9
https://doi.org/10.1084/jem.20182304

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Autor: Katrina M Wood, Stephania Bitetti, Mohammed Zarhrate, Rafiqul Hussain, Vicky Brocklebank, Meghan Acres, Vincent Bondet, Ruyue Sun, Tracy A Briggs, Rui Chen, John H. Livingston, Richard E. Randall, Robert Wynn, Claire L. Harris, Darragh Duffy, Cécile Fourrage, Florian Gothe, Christopher J A Duncan, Sophie Hambleton, Stephen M. Hughes, Karin R. Engelhardt, Julija Pavaine, Leo A. H. Zeef, Jonathan Coxhead, Dan F. Young, Yanick J. Crow, Aneta Mikulasova, Victoria G. Shuttleworth, Bronte M. Corner, Gillian I. Rice, Edmund Cheesman, Barbara A. Innes, Ronnie Wright, David J. Kavanagh, Angela Grainger, Simon C. Lovell, Andrew J. Skelton, Benjamin J. Thompson

Publikováno v: Rice, G, Lovell, S, Pavaine, J, Wright, R, Zeef, L, Hambleton, S, Briggs, T & et al. 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology, vol. 4, no. 42, eaav7501 . https://doi.org/10.1126/sciimmunol.aav7501
Duncan, C J A, Thompson, B, Chen, R, Rice, G I, Gothe, F, Young, D F, Lovell, S C, Shuttleworth, V G, Brocklebank, V, Corner, B, Skelton, A J, Bondet, V, Coxhead, J, Duffy, D, Fourrage, C, Livingston, J H, Pavaine, J, Cheesman, E, Bitetti, S, Grainger, A, Acres, M, Innes, B A, Mikulasova, A, Sun, R, Hussain, R, Wright, R, Wynn, R, Zarhrate, M, Zeef, L A H, Wood, K M, Hughes, S M, Harris, C L, Engelhardt, K R, Crow, Y, Randall, R E, Kavanagh, D, Hambleton, S & Briggs, T A 2019, ' Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 ', Science Immunology . https://doi.org/10.1126/sciimmunol.aav7501
Science Immunology
Science Immunology, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩
Science Immunology, American Association for the Advancement of Science, 2019, 4 (42), pp.eaav7501. ⟨10.1126/sciimmunol.aav7501⟩

International audience; Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75b99ad822c9b4f4b821ead0cffb9e2
https://pure.manchester.ac.uk/ws/files/149146089/aav7501_ArticleContent_preedit_CD_clean.docx

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

Autor: Jonathan Clark, Christopher D. Carey, Athena Cavounidis, Meghan Acres, Klaus Okkenhaug, Yuchun Ding, Sophie Hambleton, Anita Chandra, Peter D. Arkwright, Stephanie Needham, Rui Chen, Holm H. Uhlig, Natalio Krasnogor, Sumeet Pandey, Krishnendu Chakraborty, Dominik Aschenbrenner, David J. Swan, Andrew J. Cant, Karin R. Engelhardt, Christopher A. Lamb

Phosphoinositide 3-kinase δ (PI3Kδ), a lipid kinase consisting of a catalytic (p110δ, encoded by PIK3CD) and a regulatory subunit (p85, encoded by PIK3R1), generates the second messenger phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in the pla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373d071c8a04c295d863147584cfd616
https://www.repository.cam.ac.uk/handle/1810/292933