Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genetics in medicine : official journal of the American College of Medical Genetics
Authors:
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M Krawitz, Marius Kuhn, Johannes R Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K Pal, Rafał Płoski, Oliver W Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P A Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
Exploratory analysis of interleukin-38 in hospitalized COVID-19 patients.
Immunity, inflammation and disease
Authors:
Dennis M de Graaf, Lisa U Teufel, Aline H de Nooijer, Adriaan J van Gammeren, Antonius A M Ermens, Ildikó O Gaál, Tania O Crișan, Frank L van de Veerdonk, Mihai G Netea, Charles A Dinarello, Leo A B Joosten, Rob J W Arts
P38 kinases mediate NLRP1 inflammasome activation after ribotoxic stress response and virus infection.
The Journal of experimental medicine
Authors:
Lea-Marie Jenster, Karl-Elmar Lange, Sabine Normann, Anja vom Hemdt, Jennifer D Wuerth, Lisa D J Schiffelers, Yonas M Tesfamariam, Florian N Gohr, Laura Klein, Ines H Kaltheuner, Stefan Ebner, Dorothee J Lapp, Jacob Mayer, Jonas Moecking, Hidde L Ploegh, Eicke Latz, Felix Meissner, Matthias Geyer, Beate M Kümmerer, Florian I Schmidt
No serological evidence for neuronal damage or reactive gliosis in neuro-COVID-19 patients with long-term persistent headache.
Neurological research and practice
Authors:
Laura de Boni, Alexandru Odainic, Natalie Gancarczyk, Luisa Kaluza, Christian P Strassburg, Xenia A K Kersting, Joseph M Johnson, Ullrich Wüllner, Susanne V Schmidt, Jacob Nattermann, Gabor C Petzold