Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Computational studies on the functional and structural impact of pathogenic mutations in enzymes.
Dissanayake UC et al.
Protein Science : a Publication of the Protein Society, 2025
NADPH oxidase exerts a B cell-intrinsic contribution to lupus risk by modulating endosomal TLR signals.
Liu S et al.
The Journal of Experimental Medicine, 2024
Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach.
Yudhani RD et al.
Genomics & Informatics, 2023
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A et al.
Scientific Reports, 2022
Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children.
Bakutenko IY et al.
Molecular Genetics & Genomic Medicine, 2022
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.
Fike AJ et al.
Current Rheumatology Reports, 2019
Haploinsufficiency of NADPH Oxidase Subunit Neutrophil Cytosolic Factor 2 Is Sufficient to Accelerate Full-Blown Lupus in NZM 2328 Mice.
Jacob CO et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
Zhao J et al.
Nature Genetics, 2017
The genetic basis of systemic lupus erythematosus: What are the risk factors and what have we learned.
Teruel M et al.
Journal of Autoimmunity, 2016
A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.
Chou J et al.
Clinical Immunology (orlando, Fla.), 2015
Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex.
Armstrong DL et al.
The Journal of Biological Chemistry, 2015
Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.
Pan CX et al.
Plos One, 2015
Direct Comparison of a Natural Loss-Of-Function Single Nucleotide Polymorphism with a Targeted Deletion in the Ncf1 Gene Reveals Different Phenotypes.
Sareila O et al.
Plos One, 2015
Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease.
Dhillon SS et al.
Gastroenterology, 2014
Advances in lupus genetics and epigenetics.
Deng Y et al.
Current Opinion in Rheumatology, 2014
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.
Kim-Howard X et al.
Human Molecular Genetics, 2014
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Hunt KA et al.
Nature, 2013
Recent insights into the genetic basis of systemic lupus erythematosus.
Rullo OJ et al.
Annals of the Rheumatic Diseases, 2013
Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.
Vaughn SE et al.
Journal of Leukocyte Biology, 2012
Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
Jacob CO et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
[Expression and activity of polymorphisms in the 67-kDa protein of the NADPH oxidase system].
Arias AA et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2004