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CANT1 long non-coding RNA triggers efficient therapeutic efficacy by correcting aberrant long non-coding cascade in malignant uveal melanoma.
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The Multiple Epiphyseal Dysplasia (MED)phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED
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a novel mutation of CANT1, c.467C>T (p.Ser156Phe) in 3 Indian patients with Desbuquois dysplasia, Kim type from 2 families
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Data studied proteoglycan synthesis in CANT1 mutated patient fibroblasts, and found significant reduced GAG synthesis in presence of beta-D-xyloside, suggesting that CANT1 plays a role in proteoglycan metabolism.
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Novel mutations in the CANT1 gene are reported in three cases of Desbuquois dysplasia type I and fetal hydrops.
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estimated the age of the founder mutation as approximately 1420 years
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CANT1 is commonly overexpressed in the vast majority of primary prostate carcinomas and in the precursor lesion PIN and may represent a novel prognostic biomarker
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The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include Desbuquois dysplasia type 2 and Kim variant.
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Cloning, expression, and characterization of this calcium-acdtivated enzyme, a human enzyme belonging to a new family of extracellular nucleotidases.
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This soluble apyrase is a calcium-binding protein, as evident from saturable Ca2+-dependent changes in intrinsic tryptophan fluorescence, UV difference absorption spectra, and Ca2+-triggered transition from enzymatically inactive form to active enzyme.
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The importance of the dimeric state for enzymatic activity and biological function in this nucleotidase by mutating isoleucine 170, is investigated.
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human soluble calcium-activated nucleotidase inhibits coagulation in vitro and thrombosis in vivo
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The two novel ETV4 fusion partners possess as predominant common characteristics androgen-induction and prostate-specific expression.
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Mutations in CANT1 in Desbuquois dysplasia are identified.