Associated Papers
Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.
Bouramtane A et al.
International Journal of Immunogenetics, 2025
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.
Li Z et al.
Clinical Immunology (orlando, Fla.), 2024
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.
Chen J et al.
Human Mutation, 2024
NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
Demir F et al.
Clinical and Experimental Rheumatology, 2023
Cold-induced urticaria-like lesions related to NLRP-12 mutation.
Cichoń M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.
Çağlayan Ş et al.
Clinical Rheumatology, 2023
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.
Yun M et al.
Frontiers in Immunology, 2023
Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.
Chen S et al.
Clinical Rheumatology, 2022
NLRP12-associated systemic autoinflammatory diseases in children.
Wang HF
Pediatric Rheumatology Online Journal, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Monogenic Adult-Onset Inborn Errors of Immunity.
Staels F et al.
Frontiers in Immunology, 2021
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Del Porto F et al.
Rheumatology (oxford, England), 2020
ATP-Binding and Hydrolysis in Inflammasome Activation.
Sandall CF et al.
Molecules (basel, Switzerland), 2020
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN et al.
Clinical Genetics, 2020
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.
Jacob N et al.
Digestive Diseases and Sciences, 2019
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C et al.
Plos Genetics, 2019
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.
Ghosh K et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2019
Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens.
Normand S et al.
Nature Communications, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM et al.
Rheumatology International, 2018
NLRP12 autoinflammatory disease: a Chinese case series and literature review.
Shen M et al.
Clinical Rheumatology, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
The expanding spectrum of rare monogenic autoinflammatory diseases.
Touitou I et al.
Orphanet Journal of Rare Diseases, 2013
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
Jéru I et al.
Arthritis and Rheumatism, 2011
[Relationship between the HBV core gene mutation and the cellular immunity in host].
Li J et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2003