Associated Papers
Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.
Oiuna L et al.
Cytometry. Part B, Clinical Cytometry, 2026
Multi-omics analyses prioritize disease genes and pathways in hidradenitis suppurativa.
Peacker BL et al.
The Journal of Investigative Dermatology, 2026
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
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
Grossi A et al.
International Journal of Molecular Sciences, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Alzheimer's Disease: Models and Molecular Mechanisms Informing Disease and Treatments.
Nystuen KL et al.
Bioengineering (basel, Switzerland), 2024
Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations.
Pérez-Feal P et al.
Clinical and Experimental Dermatology, 2023
Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.
Sobitan A et al.
Genes, 2022
Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms.
Kongkiatkamon S et al.
Leukemia, 2022
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.
Gilly A et al.
Molecular Metabolism, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.
Sugiura K
Dermatology and Therapy, 2022
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Quaio CRDC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
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
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 2020
Rare germline variant contributions to myeloid malignancy susceptibility.
Li ST et al.
Leukemia, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Biosynthesis of human myeloperoxidase.
Nauseef WM
Archives of Biochemistry and Biophysics, 2018
Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation.
Milligan KL et al.
The Journal of Pediatrics, 2016
T47D Cells Expressing Myeloperoxidase Are Able to Process, Traffic and Store the Mature Protein in Lysosomes: Studies in T47D Cells Reveal a Role for Cys319 in MPO Biosynthesis that Precedes Its Known Role in Inter-Molecular Disulfide Bond Formation.
Laura RP et al.
Plos One, 2016
Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity.
Metzler KD et al.
Blood, 2011
Association of primary myeloperoxidase deficiency and myeloproliferative neoplasm.
Ohno H
Internal Medicine (tokyo, Japan), 2010
Expression of myeloperoxidase enhances the chemosensitivity of leukemia cells through the generation of reactive oxygen species and the nitration of protein.
Sawayama Y et al.
Leukemia, 2008
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
Genetic polymorphism in bladder cancer.
Wu X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2007
Biosynthesis, processing, and sorting of human myeloperoxidase.
Hansson M et al.
Archives of Biochemistry and Biophysics, 2006
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency.
Persad AS et al.
Gene Expression, 2006
Genetic studies on myeloperoxidase deficiency in Italy.
Marchetti C et al.
Japanese Journal of Infectious Diseases, 2004
Genomic variations in myeloperoxidase gene in the Japanese population.
Kameoka Y et al.
Japanese Journal of Infectious Diseases, 2004
Biosynthesis and sorting of myeloperoxidase in hematopoietic cells.
Olsson I et al.
Japanese Journal of Infectious Diseases, 2004
Lessons from MPO deficiency about functionally important structural features.
Nauseef WM
Japanese Journal of Infectious Diseases, 2004
Genetic characterization of myeloperoxidase deficiency in Italy.
Marchetti C et al.
Human Mutation, 2004
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency.
Ohashi YY et al.
Gene, 2004
Prevalence of inherited myeloperoxidase deficiency in Japan.
Nunoi H et al.
Microbiology and Immunology, 2003
The R-H polymorphism of FCgamma receptor IIa as a risk factor for systemic lupus erythematosus is independent of single-nucleotide polymorphisms in the interleukin-10 gene promoter.
Dijstelbloem HM et al.
Arthritis and Rheumatism, 2002
[Contribution of neutrophils to Aspergillus infection].
Suzuki K
Nihon Ishinkin Gakkai Zasshi = Japanese Journal of Medical Mycology, 2002
Serum myeloperoxidase concentration in a healthy population: biological variations, familial resemblance and new genetic polymorphisms.
Hoy A et al.
European Journal of Human Genetics : Ejhg, 2001
Low expression myeloperoxidase genotype negatively associated with Helicobacter pylori infection.
Hamajima N et al.
Japanese Journal of Cancer Research : Gann, 2001
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.
Nakagawa T et al.
Human Mutation, 2001