Mutations in a broad variety of genes can provoke the severe childhood disorder trichothiodystrophy (TTD) that is classified as a DNA repair disease or a transcription syndrome of RNA polymerase II. In an attempt to identify the common underlying pathomechanism of TTD we performed a knockout/knockdown of the two unrelated TTD factors TTDN1 and RNF113A and investigated the consequences on ribosomal biogenesis and performance. Interestingly, interference with these TTD factors created a nearly uniform impact on RNA polymerase I transcription with downregulation of UBF, disturbed rRNA processing and reduction of the backbone of the small ribosomal subunit rRNA 18S. This was accompanied by a reduced quality of decoding in protein translation and the accumulation of misfolded and carbonylated proteins, indicating a loss of protein homeostasis (proteostasis). As the loss of proteostasis by the ribosome has been identified in the other forms of TTD, here we postulate that ribosomal dysfunction is a common underlying pathomechanism of TTD.
To evaluate the performance of a new eight-channel phased array surface coil, a standard sixteen volume coil was compared. Signal to noise ratio(SNR) and uniformity of the two coils was measured using two different sequences respectively. The images from a volunteer with the two coils were also evaluated.In addition, simulation analysis of the coil was done for further explanation of the coil performance. The results showed the SNR of eight-channel phased array coil was about three times of sixteen-channel volume coil but had a worse uniformity. The electromagnetic simulation experiment had a consistent result with the clinical imaging.
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