Publications by authors named "Timothy Brendler-Spaeth"

Article Synopsis
  • Researchers conducted comprehensive genome editing on the BAP1 gene, which is related to tumors and neurodevelopmental issues, to study rare genetic variants.
  • They identified over 18,000 unique variants, with more than 6,000 showing abnormal functions, and linked their findings to health data from the UK Biobank and various cancer collections.
  • The study revealed that certain harmful BAP1 variants are connected to higher levels of the IGF-1 protein, highlighting a potential target for therapy, and they developed a highly accurate tool for interpreting genetic variants.
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Pigment dispersing factors (PDFs, or PDHs in crustaceans) form a structurally related group of neuropeptides found throughout the Ecdysozoa and were first discovered as pigmentary effector hormones in crustaceans. In insects PDFs fulfill crucial neuromodulatory roles, most notably as output regulators of the circadian system, underscoring their central position in physiological and behavioral organization of arthropods. Intriguingly, decapod crustaceans express multiple isoforms of PDH originating from separate genes, yet their differential functions are still to be determined.

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