Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Benedikt J. Meyer"'
Autor:
Annaïse J. Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M. Delmonte, Valentin von Niederhäusern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Köppen, Julia R. Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Savic Prince, Stephen R. Daley, Florian A. Marquardsen, Benedikt J. Meyer, Michael Tamm, Thomas D. Daikeler, Tamara Diesch, Thomas Kühne, Arthur Helbling, Caroline Berkemeier, Ingmar Heijnen, Alexander A. Navarini, Johannes Trück, Jean-Pierre de Villartay, Annette Oxenius, Christoph T. Berger, Christoph Hess, Luigi D. Notarangelo, Hiroyuki Yamamoto, Mike Recher
Publikováno v:
Jauch, Annaïse J; Bignucolo, Olivier; Seki, Sayuri; Ghraichy, Marie; Delmonte, Ottavia M; von Niederhäusern, Valentin; Higgins, Rebecca; Ghosh, Adhideb; Nishizawa, Masako; Tanaka, Mariko; Baldrich, Adrian; Köppen, Julius; Hirsiger, Julia R; Hupfer, Robin; Ehl, Stephan; Rensing-Ehl, Anne; Hopfer, Helmut; Prince, Spasenija Savic; Daley, Stephen R; Marquardsen, Florian A; ... (2023). Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency. (In Press). The Journal of allergy and clinical immunology Elsevier 10.1016/j.jaci.2023.03.022
BACKGROUND Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. LIG4 is pivotal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945f31cbf6b33ba7f5326684fb9ccf31
https://boris.unibe.ch/181397/1/1-s2.0-S0091674923004220-main.pdf
https://boris.unibe.ch/181397/1/1-s2.0-S0091674923004220-main.pdf
Autor:
Nikolaus Deigendesch, Mike Recher, Henrik Köhler, Christoph Berger, Ingmar Heijnen, Ezra Burstein, Annette Rovina, Corinne Légeret, Thomas Daikeler, Benedikt J. Meyer
Publikováno v:
Journal of Clinical Immunology
Autor:
Rabi Hanna, Alexander A. Navarini, Janet Chou, Marc B. Bigler, Joeseph A. Church, Christoph Berger, Luigi D. Notarangelo, Polina Stepensky, Anne Valérie Burgener, Fariba Rezaee, Fabian Baldin, Mike Recher, Rebecca Higgins, Waleed Al-Herz, Florian Marquardsen, Gérard Lefranc, Shlomit Kfir-Erenfeld, Christoph Hess, Raif S. Geha, Benedikt J. Meyer, Florian Wunderer, Raymond Mikhael, Zeina Baz, Daniel Bloch, Annaïse Jauch
Publikováno v:
Journal of Clinical Immunology. 37:707-714
Mutations in Sp110 are the underlying cause of veno-occlusive disease with immunodeficiency (VODI), a combined immunodeficiency that is difficult to treat and often fatal. Because early treatment is critically important for patients with VODI, broadl
Autor:
Raphael Jeker, Rebecca Higgins, Thomas Daikeler, Olivier Bignucolo, Anne-Valérie Burgener, Annemarie Gabrysch, Benedikt J. Meyer, Annaïse Jauch, Christoph Hess, Jan-Olaf Gebbers, Matthias Mehling, Alexander A. Navarini, Fabian Baldin, Bodo Grimbacher, Charlotte Schwab, Anne Kistner, Petr Hruz, Fabian Meienberg, Ingmar Heijnen, Barbara-Christina Padberg Sgier, Florian Marquardsen, David M. Sansom, Lukas T. Jeker, Marc B. Bigler, Olle Kämpe, Mike Recher, Christoph Berger, Natalie Frede, Tie Zheng Hou
Publikováno v:
The Journal of allergy and clinical immunology
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology
Autor:
Jonas Lötscher, Christoph Hess, Bojana Müller-Durovic, Rebekah Steiner, Olivier Bignucolo, Rebecca Higgins, David Sancho, Mike Recher, Bettina Burger, Gunhild Unterstab, Michel Enamorado, Alexander A. Navarini, Anne-Valérie Burgener, Ursula Sauder, Jasmin Grählert, Rolf Brücker, Glenn R. Bantug, Sarai Martínez-Cano, Eric H. Ma, Marco Geigges, Alexander Schmidt, Jordan Loeliger, Ingmar Heijnen, Robert Ivanek, Benedikt J. Meyer, Russell G. Jones, Sarah Dimeloe, Nathan Cantoni, Danielle Hunziker, Christian R Kahlert, Monika Ebnöther, Raja Epple, Adhideb Ghosh
Publikováno v:
Nature immunology. 20(10)
Whether screening the metabolic activity of immune cells facilitates discovery of molecular pathology remains unknown. Here we prospectively screened the extracellular acidification rate as a measure of glycolysis and the oxygen consumption rate as a