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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Proc Natl Acad Sci U S A
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2016
Pynciau:
Biological Sciences
Mynediad Ar-lein: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
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