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    GENE:

    POMK (Protein O-Mannose Kinase)

    i
    Other names: POMK, Protein O-Mannose Kinase, Protein Kinase-Like Protein SgK196, Sugen Kinase 196, SGK196, Probable Inactive Protein Kinase-Like Protein SgK196, FLJ23356, MDDGA12, MDDGC12, SgK196
    almost2years
    Identification and validation of a glycosyltransferase gene signature as a novel prognostic model for lung adenocarcinoma. (PubMed, Heliyon)
    We identified potential therapeutic drugs, including the MEK inhibitor (PD-184352)...We identified a distinct LUAD GT gene signature, and these differentially expressed mRNAs could serve as valuable prognostic biomarkers and therapeutic targets. Furthermore, we experimentally validated their expression levels and identified potential therapeutic agents.
    Journal • Gene Signature
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    POMK (Protein O-Mannose Kinase) • PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) • GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2)
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    CI-1040
    2years
    Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. (PubMed, Neurogenetics)
    Overall, we reached a diagnostic rate of 86% (6/7) for dystroglycanopathies and 100% (5/5) for merosinopathy. In conclusion, our results provide further evidence that WES is an important diagnostic method in CMD in developing countries to improve the diagnostic rate, management plan, and genetic counseling for these disorders.
    Journal
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    POMK (Protein O-Mannose Kinase)