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Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM . We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c...
Aberrantly high expression of EVI1 in acute myeloid leukaemia (AML) is associated with poor prognosis. For targeted treatment of EVI1 overexpressing AML a more detailed understanding of aspects of spatiotemporal interaction dynamics of the EVI1 protein is important. EVI1 overexpressing SB1690CB AML cells were used for quantification and protein interaction studies of EVI1 and ΔEVI1. Cells were cell cycle-synchronised by mimosi...
Ecological regime shift drives declining growth rates of sea turtles throughout the West AtlanticNARA Subscribed
Somatic growth is an integrated, individual‐based response to environmental conditions, especially in ectotherms. Growth dynamics of large, mobile animals are particularly useful as bio‐indicators of environmental change at regional scales. We assembled growth rate data from throughout the West Atlantic for green turtles, Chelonia mydas , which are long‐lived, highly migratory, primarily herbivorous mega‐consumers that may mig...
Causes of mortality in South American fur seal pups ( Arctophoca australis gracilis ) at Guafo Island, southern Chile (2004–2008)NARA Subscribed
As part of population dynamics studies of the South American fur seal ( Arctophoca australis gracilis ) rookery at Punta Weather in Guafo Island (43°36'S, 74°43’W), the causes and extent of pup mortality were monitored. During four breeding seasons, daily counts of live and dead pups were carried out to determine pup production and pup mortality. Dead pups were retrieved from the rookery to perform necropsies. The mean pup pro...
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