Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5
Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.
Massimo G et al.
Antioxidants (basel, Switzerland), 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development.
Perl E et al.
Hgg Advances, 2022
35599850 (PubMed )
Supplement: mmc1.pdf
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Park SK et al.
Scandinavian Journal of Gastroenterology, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Ichida K et al.
International Journal of Molecular Sciences, 2012
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.
Stiburkova B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Kinetics of 6-thioxanthine metabolism by allelic variants of xanthine oxidase.
Kudo M et al.
Drug Metabolism and Pharmacokinetics, 2010
Functional characterization of human xanthine oxidase allelic variants.
Kudo M et al.
Pharmacogenetics and Genomics, 2008
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