Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one fr...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Proc Natl Acad Sci U S A
Glavni autori: Zhou, Qing, Yu, Xiaomin, Demirkaya, Erkan, Deuitch, Natalie, Stone, Deborah, Tsai, Wanxia Li, Kuehn, Hye Sun, Wang, Hongying, Yang, Dan, Park, Yong Hwan, Ombrello, Amanda K., Blake, Mary, Romeo, Tina, Remmers, Elaine F., Chae, Jae Jin, Mullikin, James C., Güzel, Ferhat, Milner, Joshua D., Boehm, Manfred, Rosenzweig, Sergio D., Gadina, Massimo, Welch, Steven B., Özen, Seza, Topaloglu, Rezan, Abinun, Mario, Kastner, Daniel L., Aksentijevich, Ivona
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2016
Teme:
Biological Sciences
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5018768/
https://ncbi.nlm.nih.gov/pubmed/27559085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1612594113
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items