Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines
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Summary
Analysis of RNA-seq data encoding TMPRSS6 isoforms and other proteins involved in hepcidin production uncovered significant differences in expression levels between hepatocellular carcinoma (HCC) cell lines and normal human liver samples, providing important information about commonly used liver cell models and shed light on the impact of two TMPR SS6 mutations associated with IRIDA.
- Type
- article
- Published
- 2018-08-22
- Cited by
- 15
- References
- 54
- Access
- Open access
- OpenAlex
- https://openalex.org/W30135444
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:52070655
Keywords
Physics
References
- The Genotype-Tissue Expression (GTEx) project
- The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment
- Genetic variability of TMPRSS6 and its association with iron deficiency anaemia
- Matriptase‐2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple‐negative breast cancer
- The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion‐dependent thalassemias
- A novel splice site mutation c.2278 (−1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia
- Identification of TMPRSS6 cleavage sites of hemojuvelin
- Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization
- Matriptase-2, a Membrane-bound Mosaic Serine Proteinase Predominantly Expressed in Human Liver and Showing Degrading Activity against Extracellular Matrix Proteins*
- Essential Role of Endocytosis of the Type II Transmembrane Serine Protease TMPRSS6 in Regulating Its Functionality*
- Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
- Huh‐7: A human “hemochromatotic” cell line
- How to Assess Causality of TMPRSS6 Mutations?
- THE SERINE PROTEASE MATRIPTASE-2 (TMPRSS6) INHIBITS HEPCIDIN ACTIVATION BY CLEAVING MEMBRANE HEMOJUVELIN
- ENCoM server: exploring protein conformational space and the effect of mutations on protein function and stability
- Calnuc Binds to LRP9 and Affects its Endosomal Sorting
- The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.
- Inactive matriptase‐2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity
- The role of transferrin receptor 1 and 2 in transferrin-bound iron uptake in human hepatoma cells.
- Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.
Cited by
- Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease
- Compound-specific adaptation of hepatoma cell lines to toxic iron.
- Discovery and Development of TMPRSS6 Inhibitors Modulating Hepcidin Levels in Human Hepatocytes.
- The Ectodomain of Matriptase-2 Plays an Important Non-Proteolytic Role in Suppressing Hepcidin Expression in Mice.
- Inhibitors of type II transmembrane serine proteases in the treatment of diseases of the respiratory tract – A review of patent literature
- Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants.
- Hepcidin in hepatocellular carcinoma
- Hallmark-guided subtypes of hepatocellular carcinoma for the identification of immune-related gene classifiers in the prediction of prognosis, treatment efficacy, and drug candidates
- Functionally impaired isoforms regulate TMPRSS6 proteolytic activity
- The Emerging Role of Tumor Microenvironmental Stimuli in Regulating Metabolic Rewiring of Liver Cancer Stem Cells
- Copper metabolism-related risk score identifies hepatocellular carcinoma subtypes and SLC27A5 as a potential regulator of cuproptosis
- Hookworm infection as a model for deepen knowledge of iron metabolism and erythropoiesis in anemia.
- Impact of TMPRSS6 Genetic Variants on Maternal Iron Status in Pregnancy: A Systematic Review