S.A. Whitmore

TL;DR: A novel gene, CTNS, which mapped to the deletion interval is identified, which encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein.

TL;DR: A gene encodes a protein of 1,455 amino acids that has no significant homology to any other known proteins, and may therefore represent a new class of genes associated with the prevention or repair of DNA damage.

TL;DR: This work investigated the contribution of this localization to the inheritance of inflammatory bowel disease in 54 multiplex Australian families, and confirmed its importance in a significant proportion of Crohn's disease families; it was further refined to a region near to D16S409, obtaining a maximum LOD score.

TL;DR: Findings provide important insight into the biology of inversion 16 leukaemia and suggest that MRP deletion, as detected by molecular analysis, may have a key role in determining outcome in patients with inversion 15 AML.

TL;DR: It is concluded that hUBC9 retains striking structural and functional conservation with yUBC 9 and suggest a possible link of the ubiquitin/proteosome proteolytic pathway and the WT1 transcriptional repressor system.