Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values
Clinical and genetic analysis of MOCOS gene-related hypouricemia.
Peng H et al.
Frontiers in Genetics, 2025
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
Deletion of Mocos Induces Xanthinuria with Obstructive Nephropathy and Major Metabolic Disorders in Mice.
Sedda D et al.
Kidney360, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.
Peretz H et al.
Biomedicines, 2021
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.
Peretz H et al.
Jimd Reports, 2020
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
Stiburkova B et al.
Toxicology and Applied Pharmacology, 2018
A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.
Murgiano L et al.
Bmc Veterinary Research, 2016
Review article: recent advances in pharmacogenetics and pharmacokinetics for safe and effective thiopurine therapy in inflammatory bowel disease.
Moon W et al.
Alimentary Pharmacology & Therapeutics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Ichida K et al.
International Journal of Molecular Sciences, 2012
Binding of sulfurated molybdenum cofactor to the C-terminal domain of ABA3 from Arabidopsis thaliana provides insight into the mechanism of molybdenum cofactor sulfuration.
Wollers S et al.
The Journal of Biological Chemistry, 2008
Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.
Peretz H et al.
Molecular Genetics and Metabolism, 2007
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