Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.G501S
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MPO

NM_000250.2:p.G501S

Associated Papers

Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.

Sobitan A et al.

Genes, 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

32758448 (PubMed )
Supplement: mmc1.pdf

Biosynthesis of human myeloperoxidase.

Nauseef WM

Archives of Biochemistry and Biophysics, 2018

Functional consequence of positive selection revealed through rational mutagenesis of human myeloperoxidase.

Loughran NB et al.

Molecular Biology and Evolution, 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

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

Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency.

Ohashi YY et al.

Gene, 2004

Impact of missense mutations on biosynthesis of myeloperoxidase.

Nauseef WM et al.

Redox Report : Communications in Free Radical Research, 2000

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."