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    GENE:

    NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)

    i
    Other names: NR1H4, Nuclear Receptor Subfamily 1 Group H Member 4, RIP14, HRR1, FXR, Bile Acid Receptor, HRR-1, Retinoid X Receptor-Interacting Protein 14, Farnesoid X-Activated Receptor, RXR-Interacting Protein 14, Farnesol Receptor HRR-1, BAR, Nuclear Receptor Subfamily 1, Group H, Member 4, Farnesoid X Nuclear Receptor, Farnesoid X Receptor, PFIC5
    6d
    PEARL: Pediatric Evaluation and Registry for Liver Cholestasis in Canada (clinicaltrials.gov)
    P=N/A, N=220, Not yet recruiting, Children's Hospital of Eastern Ontario
    New trial
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    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ABCB4 (ATP Binding Cassette Subfamily B Member 4) • NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)
    8ms
    Recognition of pivotal immune genes NR1H4 and IL4R as diagnostic biomarkers in distinguishing ovarian clear cell cancer from high-grade serous cancer. (PubMed, Front Mol Biosci)
    NR1H4 and IL4R are promising immune-related diagnostic biomarkers for OCCC, with potential roles in neutrophil-mediated tumor microenvironment modulation. These findings enhance understanding of OCCC pathogenesis and provide a foundation for developing targeted diagnostic tools and immunotherapeutic strategies.
    Journal • IO biomarker
    |
    NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)
    1year
    Farnesoid X receptor (FXR) as a potential therapeutic target for lung diseases: a narrative review. (PubMed, J Thorac Dis)
    In this review, we summarized the current knowledge of the roles of FXR in different lung diseases. A better understanding of the roles and mechanisms of FXR in lung diseases will provide new perspectives for the treatment of lung diseases.
    Review • Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)
    |
    PD-L1 expression
    over3years
    Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature. (PubMed, Cancers (Basel))
    Moreover, HCC and CCA can emerge in patients with several FIC genes such as ABCB11, ABCB4 and TJP2. Herein, we reviewed the available data on FIC-related hepatobiliary cancers, reporting on genetics to the pathophysiology, the risk factors and the clinical presentation.
    Review • Journal
    |
    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ABCB4 (ATP Binding Cassette Subfamily B Member 4) • NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)
    4years
    Newer variants of progressive familial intrahepatic cholestasis. (PubMed, World J Hepatol)
    These children are at risk of worsening cholestasis post intestinal transplant (IT) for MVID, hence combined intestinal and liver transplant or IT with biliary diversion is preferred. Immunohistochemistry can differentiate most of the variants of PFIC but confirmation requires genetic analysis.
    Review • Journal
    |
    ABCB1 (ATP Binding Cassette Subfamily B Member 1) • AFP (Alpha-fetoprotein) • ABCB4 (ATP Binding Cassette Subfamily B Member 4) • NR1H4 (Nuclear Receptor Subfamily 1 Group H Member 4)
    |
    ABCB1 mutation