Showing papers by "David W. Hogg published in 2008"
University of New South Wales1, Peter MacCallum Cancer Centre2, University of Toronto3, Charles University in Prague4, University of Copenhagen5, Institut Gustave Roussy6, Curie Institute7, University of Paris-Sud8, University of Cologne9, Trinity College, Dublin10, University of Otago11, University of Oslo12, Russian Academy13, University of Basel14, Indiana University15, National Institutes of Health16, University of Pennsylvania17, University of Southern California18, St James's University Hospital19
TL;DR: The human orthologue of this gene is investigated in 263 patients and a rare heterozygous variant, p.
Abstract: A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents.
40 citations
TL;DR: The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes.
34 citations
TL;DR: It is concluded that germline mutations of CDKN2A occur in the Brazilian population, and that these mutations likely originated in Europe.
19 citations
TL;DR: Prevention of NO‐mediated damage during the transition to and from anoxia may be incidental to natural reductions of NMDAR activity in the anoxic turtle cortex.
8 citations
Journal Article•
1 citations