Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.G281R
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OTULIN

NM_138348.6:p.G281R

Associated Papers

M1-linked ubiquitination by LUBAC regulates AMPK signalling and the response to energetic stress.

Elbæk CR et al.

Cell Death and Differentiation, 2026

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

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 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

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

Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients.

Signa S et al.

Expert Review of Clinical Immunology, 2022

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

Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.

Zinngrebe J et al.

Embo Molecular Medicine, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."