Associated Papers
Genetic landscape of myelodysplastic syndrome and its prognostic relevance: a study from Pakistan.
Waheed A et al.
Jpma. the Journal of the Pakistan Medical Association, 2025
Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.
Vincent D et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Comparison of the Inflammatory Circuits in Psoriasis Vulgaris, Non‒Pustular Palmoplantar Psoriasis, and Palmoplantar Pustular Psoriasis.
Wang CQ et al.
The Journal of Investigative Dermatology, 2023
Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.
Juskevicius D et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
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
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
Parsopoulou F et al.
Frontiers in Allergy, 2022
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 Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 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
Biosynthesis of human myeloperoxidase.
Nauseef WM
Archives of Biochemistry and Biophysics, 2018
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Jóri B et al.
Oncotarget, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity.
Metzler KD et al.
Blood, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Myeloperoxidase genetic polymorphisms modulate human neutrophil enzyme activity: genetic determinants for atherosclerosis?
Chevrier I et al.
Atherosclerosis, 2006
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
NQO1, MPO, and the risk of lung cancer: a HuGE review.
Kiyohara C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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
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
Myeloperoxidase: new polymorphisms and relation with lung cancer risk.
Chevrier I et al.
Pharmacogenetics, 2003
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
Molecular genetics of cancer susceptibility.
Brockmöller J et al.
Pharmacology, 2000
Impact of missense mutations on biosynthesis of myeloperoxidase.
Nauseef WM et al.
Redox Report : Communications in Free Radical Research, 2000
Molecular genetics of peroxidase deficiency.
Petrides PE
Journal of Molecular Medicine (berlin, Germany), 1998
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
Romano M et al.
Blood, 1997
Characterization of hereditary partial myeloperoxidase deficiency.
Bos AJ et al.
The Journal of Laboratory and Clinical Medicine, 1982
Amyloidosis: the hereditary disorders, including Alzheimer's disease.
Glenner GG
The Journal of Laboratory and Clinical Medicine, 1981
Hereditary nonlymphopenic agammaglobulinemia with splenomegaly: a family study.
Schwartz RH et al.
The Journal of Laboratory and Clinical Medicine, 1969
Hereditary deficiency of proaccelerin (parahemophilia): a family study.
SACKS MS et al.
The Journal of Laboratory and Clinical Medicine, 1955