Associated Papers
Long-term clinical course and treatment response in two patients with OTULIN-related autoinflammatory syndrome.
Unal D et al.
Rheumatology (oxford, England), 2025
OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report.
Güngörer V et al.
The Journal of Rheumatology, 2025
Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.
AlSaleem A et al.
Pediatric Rheumatology Online Journal, 2025
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A et al.
Clinical Immunology (orlando, Fla.), 2024
Dominant negative OTULIN-related autoinflammatory syndrome.
Davidson S et al.
The Journal of Experimental Medicine, 2024
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
Takeda Y et al.
The Journal of Experimental Medicine, 2024
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A et al.
Research Square, 2024
OTULIN deficiency: focus on innate immune system impairment.
Dou B et al.
Frontiers in Immunology, 2024
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
Arts RJW et al.
Journal of Clinical Immunology, 2023
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.
Gezgin Y et al.
Molecular Biology Reports, 2022
Ubiquitin-dependent and -independent functions of OTULIN in cell fate control and beyond.
Weinelt N et al.
Cell Death and Differentiation, 2021
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.
Jahan AS et al.
Cell Death and Differentiation, 2021
OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.
Damgaard RB et al.
Embo Molecular Medicine, 2019
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
Nabavi M et al.
Journal of Clinical Immunology, 2019
An Update on Autoinflammatory Diseases: Relopathies.
Steiner A et al.
Current Rheumatology Reports, 2018
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Linear ubiquitin chains: enzymes, mechanisms and biology.
Rittinger K et al.
Open Biology, 2017
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Zhou Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016