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Abstract:
The highly conserved transcription factor SOX10 is expressed in multiple tissues and is implicated in several congenital diseases. For example, mutations in the SOX10 gene are a primary cause of autosomal dominant and recessive ocular albinism, and mutations in SOX10 are a recurrent cause of Waardenburg syndrome type 2 (WS2). In addition, Sox10 was recently identified as a master regulator of melanocytic and neural crest cell fate decisions. To better understand how mutations in SOX10 contribute to WS2 and other congenital disorders, we generated a panel of DOK7/SOX10 double knockout (DKO) ES cells. These cells were used to generate the first conditional knockouts of SOX10 in mice, which serve as a model for WS2. In addition, we have generated mutations in SOX10 in ES cells, which are informative for the identification of novel molecular mechanisms. Finally, we used these ES cells to generate a second generation of Sox10 floxed mice, which will serve as the basis for conditional Sox10 knockout mice in the future.Non-routine performance of psychological autopsy: a preliminary study.
This study examined the value of a non-routine psychological autopsy (P.A.) in the context of a multi-agency accident investigation. This method was proposed for the investigation of cases where a full P.A. could not be obtained. ac619d1d87
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