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    PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

    Gene ID: 5836, updated on 6-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.

    miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.
    Wang G, Tao X, Peng L., Free PMC Article

    06/11/2022
    Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.

    Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.
    Zhu Y, Liu Z, Lv D, Cheng X, Wang J, Liu B, Han Z, Wang Y, Liu R, Gao Y.

    03/26/2022
    Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.

    Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.
    Figlak K, Williams G, Bertolini M, Paus R, Philpott MP., Free PMC Article

    01/29/2022
    Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.

    Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.
    Xu J, Liu X, Liu X, Zhi Y., Free PMC Article

    01/22/2022
    The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.

    The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.
    Martínez-Navarro FJ, Martínez-Morcillo FJ, López-Muñoz A, Pardo-Sánchez I, Martínez-Menchón T, Corbalán-Vélez R, Cayuela ML, Pérez-Oliva AB, García-Moreno D, Mulero V.

    09/11/2021
    Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

    Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
    Lu SQ, Feng JY, Liu J, Xie XB, Lu Y, Abuduxikuer K.

    06/19/2021
    Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.

    Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
    Zhan Q, Lv Z, Tang Q, Huang L, Chen X, Yang M, Lan L, Shan Q., Free PMC Article

    05/8/2021
    Description of two GSD VI patients expanding the spectrum of PYGL mutations.

    Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
    Luo X, Hu J, Gao X, Fan Y, Sun Y, Gu X, Qiu W., Free PMC Article

    05/9/2020
    Observational study of gene-disease association. (HuGE Navigator)

    Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

    12/5/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).
    Tomihira M, Kawasaki E, Nakajima H, Imamura Y, Sato Y, Sata M, Kage M, Sugie H, Nunoi K, Tomihira M, Kawasaki E, Nakajima H, Imamura Y, Sato Y, Sata M, Kage M, Sugie H, Nunoi K.

    03/13/2008
    Deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly.

    High frequency of missense mutations in glycogen storage disease type VI.
    Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

    01/21/2010
    Susceptibility to excessive liver glycogen storage in patients with type 1 diabetes.

    Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL).
    Tomihira M, Kawasaki E, Nakajima H, Imamura Y, Sato Y, Sata M, Kage M, Sugie H, Nunoi K, Tomihira M, Kawasaki E, Nakajima H, Imamura Y, Sato Y, Sata M, Kage M, Sugie H, Nunoi K.

    01/21/2010
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