Associated Papers
Multi-omics analyses prioritize disease genes and pathways in hidradenitis suppurativa.
Peacker BL et al.
The Journal of Investigative Dermatology, 2026
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa.
Azzarà A et al.
Biomedicines, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.
Sobitan A et al.
Genes, 2022
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.
Gilly A et al.
Molecular Metabolism, 2022
Functional Defect of Neutrophils Causing Dermatophytosis: Case Report.
Constantino-Silva RN et al.
Journal of Fungi (basel, Switzerland), 2020
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Haskamp S et al.
American Journal of Human Genetics, 2020
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
Vergnano M et al.
American Journal of Human Genetics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Reiner AP et al.
Human Molecular Genetics, 2013
Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity.
Metzler KD et al.
Blood, 2011
Myeloperoxidase gene-463G > A polymorphism and premature coronary artery disease.
Zhong C et al.
Genetics and Molecular Biology, 2009
Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD.
Mauch L et al.
Clinical Chemistry, 2007
Myeloperoxidase genetic polymorphisms modulate human neutrophil enzyme activity: genetic determinants for atherosclerosis?
Chevrier I et al.
Atherosclerosis, 2006
Genetic studies on myeloperoxidase deficiency in Italy.
Marchetti C et al.
Japanese Journal of Infectious Diseases, 2004
Genetic characterization of myeloperoxidase deficiency in Italy.
Marchetti C et al.
Human Mutation, 2004
Myeloperoxidase: new polymorphisms and relation with lung cancer risk.
Chevrier I et al.
Pharmacogenetics, 2003
Expression of myeloperoxidase (MPO) by neutrophils is necessary for their activation by anti-neutrophil cytoplasm autoantibodies (ANCA) against MPO.
Reumaux D et al.
Journal of Leukocyte Biology, 2003