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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
The identification of a new evolutionarily conserved subunit of TFIIH implicated in TTD-A provides insight intoTFIIH function in transcription, DNA repair and human disease. Expand
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
A new gene, SLC17A5 is described, encoding a protein (sialin) with a predicted transport function that belongs to a family of anion/cation symporters (ACS), and observations suggest that mutations in SLC 17A5 are the primary cause of lysosomal sialic acid storage diseases. Expand
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
It is shown that TCF 12 and TWIST1 act synergistically in a transactivation assay and that mice doubly heterozygous for loss-of-function mutations in Tcf12 and Twist1 have severe coronal synostosis, and that the dosage of TCF12-TWIST1 heterodimers is critical for normal coronal suture development. Expand
XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes
Using heparin chromatography, gel filtration and native gel electrophoresis, it is demonstrated that the majority of HHR23B is in a free, non-complexed form, and that a minor fraction is tightly associated with XPC, while the H HR23A may have an additional function independent of XPC. Expand
Visual analytics in the pharmaceutical industry
With the flood of data across all aspects of the pharmaceutical industry, information visualization is emerging as a critical component of discovery, development, and business. But it's a new classExpand
Glut1/SLC2A1 is crucial for the development of the blood‐brain barrier in vivo
In the present study, the in vivo effects of Glut1 knockdown on the cerebral vascular development were investigated and it was hypothesized that the expression of GlUT1 may play a significant role in the development of the cerebral microvasculature with BBB properties. Expand
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated
The possible role of sialin in normal development and in SASD pathogenesis is discussed, as a framework for further investigation of its function in these contexts. Expand
DNA microarray analysis for human congenital heart disease
It is concluded that the upregulation of genes encoding VEGF and ECM proteins are the key events contributing to right ventricular hypertrophy and stunted angiogenesis in patients with TF. Expand
Gene fusions by chromothripsis of chromosome 5q in the VCaP prostate cancer cell line
The data indicate that although a marker of genomic instability, chromothripsis might lead to only a limited number of functionally relevant fusion genes. Expand
TF Target Mapper: A BLAST search tool for the identification of Transcription Factor target genes
TF Target Mapper is a very efficient BLAST search tool that can contribute to the comprehensive bioinformatic transcriptome/regulome analysis, by providing insight into the mechanisms of action of specific transcription factors, thus helping to elucidate the pathways these factors regulate. Expand