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UnknownFull UPF3B function is critical for neuronal differentiation of neural stem cells.

Background

Mutation in the UPF3B gene on chromosome X is implicated in neurodevelopmental disorders including X-linked intellectual disability, autism and schizophrenia. The protein UPF3B is involved in the nonsense-mediated mRNA decay pathway (NMD) that controls mRNA stability and functions...
S-EPMC4445987 | biostudies-literature
UnknownClinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer families from Orkney in the Northern Isles of Scotland, UK. We sought to investigate the frequency and clinical relevance of this variant in those o...
S-EPMC10172333 | biostudies-literature
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