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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Exp Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Rockefeller University Press 2020
Fag:
Brief Definitive Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker