Associated Papers
Crohn's Disease-associated variant in laccase domain containing 1 (LACC1) modulates T cell gene expression, metabolism and T cell function.
Li Y et al.
Nature Communications, 2025
New discoveries in the genetics and genomics of systemic juvenile idiopathic arthritis.
Correia Marques M et al.
Expert Review of Clinical Immunology, 2024
Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assay in vitro.
Xiong E et al.
National Science Review, 2024
[Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].
Knieper AM et al.
Zeitschrift Fur Rheumatologie, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.
Wu Y et al.
Molecular Genetics & Genomic Medicine, 2023
LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages.
Wei Z et al.
Nature, 2022
A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
Butbul Aviel Y et al.
Rheumatology (oxford, England), 2021
Association of novel rare coding variants with juvenile idiopathic arthritis.
Meng X et al.
Annals of the Rheumatic Diseases, 2021
LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Omarjee O et al.
The Journal of Experimental Medicine, 2021
New or vanishing frontiers: LACC1-associated juvenile arthritis.
Al-Mayouf SM et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
LACC1 gene mutation in three sisters with polyarthritis without systemic features.
Singh A et al.
Annals of the Rheumatic Diseases, 2020
FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle.
Cader MZ et al.
Cell, 2020
Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).
Al-Mayouf SM et al.
Rheumatology International, 2020
LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes.
Huang C et al.
Cell Reports, 2019
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Rabionet R et al.
Scientific Reports, 2019
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.
Beck DB et al.
Frontiers in Immunology, 2019
Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.
Szymanski AM et al.
International Immunology, 2018
Lessons from characterization and treatment of the autoinflammatory syndromes.
Aksentijevich I et al.
Current Opinion in Rheumatology, 2017
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.
Takeuchi M et al.
Nature Genetics, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
Kallinich T et al.
Pediatric Rheumatology Online Journal, 2016
C13orf31 (FAMIN) is a central regulator of immunometabolic function.
Cader MZ et al.
Nature Immunology, 2016
LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis.
Assadi G et al.
Genes and Immunity, 2016
Newly recognized Mendelian disorders with rheumatic manifestations.
de Jesus AA et al.
Current Opinion in Rheumatology, 2015
Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.
Aksentijevich I
Seminars in Immunopathology, 2015
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
Wakil SM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2015