• Publications
  • Influence
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
TLDR
The presence of H3F3A/ATRX-DAXX/TP53 mutations was strongly associated with alternative lengthening of telomeres and specific gene expression profiles, suggesting that defects of the chromatin architecture underlie paediatric and young adult GBM pathogenesis. Expand
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
TLDR
Data sets of RNA and protein expression are used to identify the gene causing Leigh syndrome, French-Canadian type (LSFC), a human cytochrome c oxidase deficiency that maps to chromosome 2p16-21, providing definitive genetic proof that LRPPRC indeed causes LSFC. Expand
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
TLDR
Findings argue for H3.3-mutation testing at diagnosis, which should be rapidly integrated into the clinical decision-making algorithm, particularly in atypical DIPG, while patients wild-type for H2.3 show improved survival. Expand
Analysis of PALB2/FANCN-associated breast cancer families
TLDR
This study supports recent observations that PALB2 mutations are present, albeit not frequently, in breast cancer families and suggests that at least some PALB 2 mutations are associated with a substantially increased risk for the disease. Expand
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
TLDR
The cloning of this gene, SACS, which encodes the protein sacsin, which is the largest to be identified in any vertebrate organism is reported, and the presence of heat-shock domains suggests a function for sacsin in chaperone-mediated protein folding. Expand
A White Spruce Gene Catalog for Conifer Genome Analyses1[W][OA]
TLDR
A gene catalog was developed for the conifer tree Picea glauca through large-scale expressed sequence tag sequencing and full-length cDNA sequencing to facilitate genome characterizations, comparative genomics, and gene mapping and next-generation methods confirmed and enhanced the catalog by providing deeper coverage for rare transcripts, by extending many incomplete clusters, and by augmenting the overall transcriptome coverage. Expand
A Distal Upstream Enhancer from the Myelin Basic Protein Gene Regulates Expression in Myelin-Forming Schwann Cells
TLDR
Observations suggest that SCE1 will make available a powerful tool to drive transgene expression in myelinating Schwann cells and that a focused analysis of the S CE1 sequence will lead to the identification of transcription factor binding sites that positively regulate MBPexpression. Expand
Survey of allelic expression using EST mining.
TLDR
This study uses human EST data in dbEST as the source of allelic expression data, and the HapMap database to provide expected allele frequencies in human populations to provide in silico as well as experimental evidence that this strategy does allow significant enrichment of genes harboring common heritable cis-acting polymorphisms in linkage disequilibrium with expressed alleles. Expand
A survey of genetic and epigenetic variation affecting human gene expression.
TLDR
A survey of human genes that demonstrate allelic differences in gene expression, reflecting the presence of putative allele-specific cis-acting factors of either genetic or epigenetic nature is reported. Expand
Molecular characterization of a 23-kilodalton major antigen secreted by Toxoplasma gondii.
TLDR
In tachyzoite in vitro translation products a polypeptide of 24 kDa that is an excreted-secreted antigen (ESA) and is cross-reactive with bradyzoites and shows its physiological importance in host-cell invasion. Expand
...
1
2
3
4
5
...