Associated Papers
Mutation of the Thap4 gene causes dwarfism and testicular anomalies in rats and mice.
Katayama K et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2024
Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes.
Castro VL et al.
Gene, 2023
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T et al.
Nature Communications, 2022
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Dehaene H et al.
Plos One, 2020
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Quintana AM et al.
Human Molecular Genetics, 2017
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