Yosef Shiloh

TL;DR: The results establish the amplification of a variable-sized segment of one domain near the terminus of 2p in advanced neuroblastomas and indicate the existence of a new and complex amplification mechanism in at least one neuroblastoma cell line (IMR-32), which involves not only relocation of DNA from specific genomic domains but also the formation of novel units by splicing together very distant DNA segments.

TL;DR: It is reported that a single molecular defect—a deletion spanning the third exon of the PAH gene—is responsible for all the PKU cases among the Yemenite Jews.

TL;DR: The present deletion map indicates that three distinct regions at 11q23.1 may be involved in breast cancer development; one between the markers DIIS1294 and DIIS1818, a second close to APOC‐3, and a third that is possibly the ATM‐gene itself.

TL;DR: Structural features suggest that ATM expression might be subject to complex post-transcriptional regulation, enabling rapid modulation of ATM protein level in response to environmental stimuli or alterations in cellular physiological states.

TL;DR: It is suggested that the absence of functional ATM results in a mild but continuous state of oxidative stress, which could account for several features of the pleiotropic phenotype of A-T.