Associated Papers
Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.
Wu S et al.
The Journal of Allergy and Clinical Immunology, 2025
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Association Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.
Vatandoost N et al.
International Journal of Immunogenetics, 2025
Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patients.
Miao J et al.
Orphanet Journal of Rare Diseases, 2025
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
Oprea Y et al.
American Journal of Clinical Dermatology, 2024
NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.
Li Z et al.
Clinical Immunology (orlando, Fla.), 2024
Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.
Niewold TB et al.
Nature Reviews. Rheumatology, 2024
Case report: Other autoinflammatory mutations in a patient with atypical familial Mediterranean fever symptoms.
Hacıoglu E et al.
International Journal of Rheumatic Diseases, 2024
NLRP3, NLRP6, and NLRP12 are inflammasomes with distinct expression patterns.
Wei B et al.
Frontiers in Immunology, 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 in Chinese adult patients: a single-centre study.
Miao J et al.
Rmd Open, 2023
The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.
Çağlayan Ş et al.
Clinical Rheumatology, 2023
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Nomani H et al.
Frontiers in Immunology, 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
Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype.
Gupta L et al.
Annals of the Rheumatic Diseases, 2021
A rare case of an NLRP12-associated autoinflammatory disease.
Ayla AY et al.
European Journal of Medical Genetics, 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
Neurological manifestations of autoinflammatory diseases in Chinese adult patients.
Qin W et al.
Seminars in Arthritis and Rheumatism, 2020
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Del Porto F et al.
Rheumatology (oxford, England), 2020
The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.
Wang W et al.
World Journal of Pediatrics : Wjp, 2020
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
Association of NLRP1 Coding Polymorphism with Lung Function and Serum IL-1β Concentration in Patients Diagnosed with Chronic Obstructive Pulmonary Disease (COPD).
Ozretić P et al.
Genes, 2019
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
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine.
Yao Q et al.
Autoimmunity, 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
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM et al.
Rheumatology International, 2018
Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).
Li C et al.
Science China. Life Sciences, 2017
NLRP12 autoinflammatory disease: a Chinese case series and literature review.
Shen M et al.
Clinical Rheumatology, 2017
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
Marzano AV et al.
The British Journal of Dermatology, 2017
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.
Nakayama M et al.
Biochemistry and Biophysics Reports, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Cattalini M et al.
Internal and Emergency Medicine, 2016
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
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.
Xia X et al.
Plos One, 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
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.
De Pieri C et al.
Pediatric Rheumatology Online Journal, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Aksentijevich I et al.
Arthritis and Rheumatism, 2007
[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
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls.
De Pieri C et al.
Clinical and Experimental Rheumatology, 0
The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al.
Vitale A et al.
Clinical and Experimental Rheumatology, 0