3 Bullets: Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by scalp lesions and limb defects. Additional vascular abnormalities and heart defects can lead to early death in some patients. By analyzing twelve families affected with the disease, we identified causal mutations in a new disease gene, NOTCH1, in five families. NOTCH1 is likely to be the major cause of AOS. NOTCH1 codes for a transcription factor that governs…
3 Bullets: Aggressive tumor growth is linked to high activity of a macromolecular assembly called RNA polymerase I. ISB and FHCRC researchers collaborate to map the architecture of the assembly using a powerful crosslinking-mass spectrometry (CXMS) technology. Structural maps provide important insights into therapeutic targets for cancer treatment. By Mark Gillespie Rapidly growing tumor cells require large amounts of protein for their survival. This increased protein synthesis, or translation, can…
By ISBUSA ISB researcher Sarah Li was featured on the cover of C&EN Magazine on Nov. 18. The cover story is about how instrumentation companies are teaming up with research organizations to gain access to valuable work that could help refine or develop new technologies. ISB's Dr. Robert Moritz comments about our collaboration with AB Sciex for the story. Excerpt from the piece: "Building on this work, AB Sciex formed…
ISB associate professor Nathan Price and Vangelis Simeonidis, a visiting scholar from Luxembourg Centre for Systems Biomedicine (LCSB is a major strategic partner with ISB), contributed to this paper – “A community-driven global reconstruction of human metabolism” – that was published today in Nature Biotechnology. An excerpt describing the collaborative project from a press release is below. An interactive map is forthcoming. From Medicalxpress.com: “An international consortium of university…
