Associated Papers
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Alfayyadh MM et al.
Clinical Genetics, 2025
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
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
Rare germline variant contributions to myeloid malignancy susceptibility.
Li ST et al.
Leukemia, 2020
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
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Conserved cysteine residues provide a protein-protein interaction surface in dual oxidase (DUOX) proteins.
Meitzler JL et al.
The Journal of Biological Chemistry, 2013
Proconvertase proteolytic processing of an enzymatically active myeloperoxidase precursor.
McCormick S et al.
Archives of Biochemistry and Biophysics, 2012
Impact of two novel mutations on the structure and function of human myeloperoxidase.
Goedken M et al.
The Journal of Biological Chemistry, 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
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
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
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
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
Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency.
Nauseef WM
The Journal of Laboratory and Clinical Medicine, 1999
Molecular genetics of peroxidase deficiency.
Petrides PE
Journal of Molecular Medicine (berlin, Germany), 1998
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.
DeLeo FR et al.
The Journal of Clinical Investigation, 1998
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
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency.
Erbagci Z
Pediatric Dermatology, 0