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Purpose: To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, a ...
The sequencing of genomes of several organisms and advances in high throughput technologies for transcriptome and proteome anal. has allowed detailed mechanistic studies of transcription and translation using math. frameworks that allow integration of both ...
Telomeres, the DNA-protein complexes located at the end of linear eukaryotic chromosomes, are essential for chromosome stability. Until now, telomeres have been considered to be transcriptionally silent. We demonstrate that mammalian telomeres are transcri ...
BACKGROUND: Organisms are able to anticipate changes in the daily environment with an internal oscillator know as the circadian clock. Transcription is an important mechanism in maintaining these oscillations. Here we explore, using whole genome tiling arr ...
Tetrachloroethene (PCE) reductive dehalogenases are the key catalysts in the respiratory chain of dehalorespiring microorganisms, where they act as the terminal electron-accepting enzymes in the process. On protein level, reductive dehalogenases have been ...
Background Expression systems based on self-cleavable intein domains allow the generation of recombinant proteins with a C-terminal thioester. This uniquely reactive C-terminus can be used in native chemical ligation reactions to introduce synthetic groups ...
The HIV-1 regulatory proteins Tat and Rev are encoded by multiply spliced mRNAs that differ by the use of alternative 3' splice sites at the beginning of the internal exon. If these internal exons are skipped, the expression of these genes, and hence HIV-1 ...
BACKGROUND: The Affymetrix technology is nowadays a well-established method for the analysis of gene expression profiles in cancer research studies. However, changes in gene expression levels are not the only way to link genes and disease. The existence of ...
In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the pro ...
Current advanced molecular biology techniques provide gene expression (mRNA) levels of selected genes of an organism. In such aggregate, the mRNA level of one gene is mediated by the presence of specific proteins and metabolites produced by other genes. Ge ...
