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In addition to the differences between populations in transcriptional and translational regulation of genes, alternative pre-mRNA splicing (AS) is also likely to play an important role in regulating gene expression and generating variation in mRNA and protein isoforms. Recently, the genetic contribu...
ORGANISM(S): Homo sapiens 
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by abnormalities in reciprocal social interactions and language development and/or usage, and by restricted interests and repetitive behaviors. Differential gene expression of neurologically relevant genes in lymphoblasto...
ORGANISM(S): Homo sapiens 

We developed a novel microfluidic platform to automatically barcode genomic DNA from individual cancer cells. Using this approach, we sequenced acute myeloid leukemia (AML) tumors targeting up to 62 loci relevant for the disease from thousands of cells. We predict that our platform will enable an...

The study of gene expression as an intermediate phenotype in associating genotype to disease is growing rapidly. The success of this approach depends heavily on the availability of accurate, high throughput platforms for assaying expression levels of genome-wide gene sets. We evaluated a new platfor...
ORGANISM(S): Homo sapiens 
How epigenetic information is transmitted from generation to generation remains largely unknown. Deletion of the C. elegans Histone H3 lysine 4 dimethyl (H3K4me2) demethylase spr-5 leads to inherited accumulation of the euchromatic H3K4me2 mark and progressive decline in fertility. Here we identifie...
ORGANISM(S): Caenorhabditis elegans 
Genomic integrity within transcriptionally active regions is crucial for averting oncogenic mutations, yet the precise mechanisms governing DNA double-strand break (DSB) repair in these areas remain elusive. This study reveals that the IRAK1-spliceosome axis orchestrates small nuclear RNA (snRNA) as...
ORGANISM(S): Homo sapiens 
Hormones and nutrients often induce genetic programs via signaling pathways that interface with gene-specific activators. Activation of the cAMP pathway, for example, stimulates cellular gene expression by means of the PKA-mediated phosphorylation of cAMP-response element binding protein (CREB) at S...
ORGANISM(S): Homo sapiens 
Aristolochic Acid (AA), a natural component of Aristolochia plants found in a variety of herbal remedies and health supplements, is classified as a group 1 carcinogen by the International Agency for Research on Cancer. In order to search for miRNA regulation in AA-induced carcinogenesis, we treated ...
ORGANISM(S): Rattus norvegicus 
We performed ChIP-seq analyses for WT, H3K9M mutant and clr4 mutant in Schizosaccharomyces pombe, and showed that H3K9me3 level was reduced to background levels across the entire genome, similar to clr4 mutant.
ORGANISM(S): Schizosaccharomyces pombe 
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