Article
A novel GNAS-mutated human induced pluripotent stem cell model for understanding GNAS-mutated tumors.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine - 1 Sept 2020
Watanabe Katsuhito, Nakamura Takashi, Onodera Shoko, Saito Akiko, Shibahara Takahiko, Azuma Toshifumi
Abstract excerpt
A missense mutation of the guanine nucleotide binding protein alpha stimulating activity polypeptide 1 (GNAS) gene, typically Arg201Cys or Arg201His (R201H/R201C), leads to constitutive activation of the Gsα-cyclic AMP (cAMP) signaling pathway that causes several diseases. However, no germline mutations of GNAS have been identified to date, likely due to their lethality, and no robust human cell models have been...
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