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In studying patients with activating GNAI2 mutations, we observed T cell hyperresponsiveness that was independent of cAMP suppression. Therefore, we hypothesized that Gαi2 utilizes alternative signal transduction pathways which might be delineated by identifying its interacting proteins in T cells. ...
ORGANISM(S): Homo sapiens (Human) Escherichia coli 
2024-09-20 | PXD048980 | Pride

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
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