Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented...

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Vydáno v:J Exp Med
Hlavní autoři: Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T., Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S., Kurdi, Wesam I.Y., Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S., Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S., Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Rockefeller University Press 2020
Témata:
Brief Definitive Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7062520/
https://ncbi.nlm.nih.gov/pubmed/31914175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20191306
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