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- 1From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedIt is known that the molecular basis of epigenetic states that are heritable during cell division involves histone chromatin structural proteins, as histone modifications can be inherited during DNa replication. Now,...
- 2From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedGenome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a...
- 3From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedIt has been reported that relatively short RNAs of heterogeneous sizes are derived from sequences near the promoters of eukaryotic genes. In conjunction with the FANTOM4 project, we have identified tiny RNAs with a modal...
- 4From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedLarge-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding...
- 5From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedTwo studies show that the common recurrent gene fusion between TMPRSS2 and ERG promotes prostate cancer in both mouse and humans when PTEN is concurrently lost. In human prostate cancer, the presence of both these...
- 6From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedPrimary congenital glaucoma (PCG) is a relatively rare, early-onset glaucoma that is usually inherited as an autosomal recessive condition and whose incidence is elevated in populations with high rates of consanguinity....
- 7From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedThe TMPRSS2-ERG fusion, present in approximately 50% of prostate cancers, is less common in prostatic intraepithelial neoplasia (PIN), raising questions about whether TMPRSS2-ERG contributes to disease initiation. We...
- 8From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedChronic hepatitis B is a serious infectious liver disease that often progresses to liver cirrhosis and hepatocellular carcinoma; however, clinical outcomes after viral exposure vary enormously among individuals (1)....
- 9From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedThanks to technologies such as array comparative genomic hybridization and SNP genotyping array analysis it is now well established that previously undetectable genomic copy number changes can be pathogenic or...
- 10From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedSequencing technologies have unleashed more than enough quantitative data to test systems models of genome function, and sequence data are now driving a new systems biology. the new rNa entities uncovered may require new...
- 11From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedWe conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173...
- 12From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedMutational activation of BRAF is the earliest and most common genetic alteration in human melanoma. To build a model of human melanoma, we generated mice with conditional melanocyte-specific expression of...
- 13From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedA new study reports large-scale systematic resequencing of the coding exons of the X chromosome in males with X-linked mental retardation (XLMR), illustrating the challenge of sorting through large amounts of benign...
- 14From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedAlthough repetitive elements pervade mammalian genomes, their overall contribution to transcriptional activity is poorly defined. Here, as part of the FANTOM4 project, we report that 6-30% of cap-selected mouse and human...
- 15From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedA mutational analysis of the matrix metal loproteinase (MMP) gene family in human melanoma identified somatic mutations in 23% of melanomas. Five mutations in one of the most commonly mutated genes, MMP8, reduced MMP...
- 16From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedThe gene encoding isocitrate dehydrogenase-1 (IDH1) has been shown to be somatically mutated, producing a single aminoacid substitution at Arg132 in approximately 70% of secondary gliomas, but its contribution to the...
- 17From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedChromosomal translocations involving the ERG locus are frequent events in human prostate cancer pathogenesis; however, the biological role of aberrant ERG expression is controversial (1). Here we show that aberrant...
- 18From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedWe conducted a genome-wide association study in 939 individuals with atopic dermatitis and 975 controls as well as 270 complete nuclear families with two affected siblings. SNPs consistently associated with atopic...
- 19From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedTo identify genetic factors influencing quantitative traits of biomedical importance, we conducted a genome-wide association study in 8,842 samples from population-based cohorts recruited in Korea. For height and body...
- 20From: Nature Genetics. (Vol. 41, Issue 5) Peer-ReviewedA new study defines the flaky tail mouse as a model for human atopic dermatitis caused by a null mutation in the gene encoding filaggrin, a key component of the epidermal barrier. Research in these mice will help explain...