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Among his laboratory's many subsequent discoveries, he is recognized for the cloning of the patched gene family and demonstration that a human homolog PTCH1 is a key tumor suppressor gene for the Hedgehog signaling pathway as well as the causative gene for the nevoid basal cell carcinoma syndrome, or Gorlin syndrome.
The ARF tumor suppressor is a protein that is transcribed from an alternate reading frame of the INK4a/ARF locus (CDKN2A).
The cause of the syndrome is a mutation in the PTCH1 tumor-suppressor gene at chromosome 9q22.3, which inhibits the hedgehog signaling pathway.
Leffell was a member of the international team that discovered PTC1, a tumor suppressor gene that plays a critical role in the development of hereditary and sporadic basal cell cancer.
The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene).
The aberrant epigenetic landscape of the cancer cell is characterized by a global genomic hypomethylation, CpG island promoter hypermethylation of tumor suppressor genes, an altered histone code for critical genes and a global loss of monoacetylated and trimethylated histone H4.
Protein phosphatase 2A (PP2A) is a cellular tumor suppressor which inhibits cell proliferation and transformation of normal cells to malignant cancer cells.
Micro-RNA-205 induced the expression of tumor suppressor genes IL-24 and IL-32 at both the messenger RNA and protein levels.
PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1.