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14-3-3ζ is Amplified, Overexpressed and Possesses Oncogenic Activities in Head and Neck Squamous Cell Carcinoma Nature Precedings
Mauting Lin; Carl D. Morrison; Susie Jones; Nehad Mohamed; Jason Bacher; Christoph Plass.
Gene amplification, a common mechanism for oncogene activation in cancers, has been used in the discovery of novel oncogenes. DNA amplification is frequently observed in head and neck squamous cell carcinomas (HNSCCs) where numerous amplification events and potential oncogenes have already been reported. Recently, we applied restriction landmark genome scanning (RLGS) to study gene amplifications in HNSCC and located novel amplified and uncharacterized regions in primary tumor samples. DNA amplification on 8q22.3, the location of 14-3-3[zeta] (YWHAZ, KCIP-1) is found in 30-40% HNSCC cases. Data obtained from fluorescent in-situ hybridization (FISH) and immunohistochemistry on HNSCC tissue microarrays confirmed frequent low-level 14-3-3[zeta] copy number...
Tipo: Manuscript Palavras-chave: Cancer.
Ano: 2008 URL: http://precedings.nature.com/documents/1953/version/1
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Principles for the post-GWAS functional characterisation of risk loci Nature Precedings
Matthew L. Freedman; Alvaro N. A. Monteiro; Simon A. Gayther; Gerhard A. Coetzee; Angela Risch; Christoph Plass; Graham Casey; Mariella De Biasi; Chris Carlson; Dave Duggan; Michael James; Pengyuan Liu; Jay W. Tichelaar; Haris G. Vikis; Ming You; Ian G. Mills.
Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order to maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNPs are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of...
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Data Standards.
Ano: 2011 URL: http://precedings.nature.com/documents/5162/version/2
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Principles for the post-GWAS functional characterisation of risk loci Nature Precedings
Alvaro N. A. Monteiro; Gerhard A. Coetzee; Matthew L. Freedman; Mariella De Biasi; Graham Casey; Dave Duggan; Angela Risch; Christoph Plass; Pengyuan Liu; Michael James; Haris G. Vikis; Jay W. Tichelaar; Ming You; Simon A. Gayther; Ian G. Mills.
Several challenges lie ahead in assigning functionality to susceptibility SNPs. For example, most effect sizes are small relative to effects seen in monogenic diseases, with per allele odds ratios usually ranging from 1.15 to 1.3. It is unclear whether current molecular biology methods have enough resolution to differentiate such small effects. Our objective here is therefore to provide a set of recommendations to optimize the allocation of effort and resources in order maximize the chances of elucidating the functional contribution of specific loci to the disease phenotype. It has been estimated that 88% of currently identified disease-associated SNP are intronic or intergenic. Thus, in this paper we will focus our attention on the analysis of non-coding...
Tipo: Manuscript Palavras-chave: Genetics & Genomics.
Ano: 2010 URL: http://precedings.nature.com/documents/5162/version/1
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