Sophie Patmore - Mitochondrial Disease - Long Term Ventilation - Tracheostomy
 
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01/08/2010 07:37:19
Thank you to 'Stitches of Love and Kindness'
A massive thank you to everyone at 'Stiches of Love and Kindness' who helped to make Sophie's beautiful handmade quilt.
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06/04/2010 19:17:04
Thank you to Jaxson's Blankies for Babes
A special thank you to Jaxson's Blankies for Babes for the special blanket sent to Sophie
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14/12/2009 21:45:16
The Holly Bush launch new website
The Holly Bush country pub based in Frensham launch their own website.
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RECENT BLOGS
01/09/2010 21:37:57
Sophie loves her new train set!
Sophie has lots of fun playing with her new switch adapted Thomas the Tank Engine train set
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16/08/2010 21:51:39
Lots of Water Fun and an Energy Crash
Sophie had a great July with lots of tomboy fun. Unfortunately the end of July and early August bought with it an energy crash.
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04/08/2009 22:45:29
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Comparative Analyses of Disease Risk Genes Belonging to the Acyl-CoA Synthetase Medium-Chain (ACSM) Family in Human Liver and Cell Lines
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The human ACSM1, 2A and B, 3, and 5 genes, located on chromosome 16p12-13, encode for enzymes catalyzing the activation of medium-chain length fatty acids. Association studies have linked several polymorphisms of these genes to traits of insulin resistance syndrome. In our study, ACSM transcripts showed 3 to >400-fold higher expression levels in human liver when compared to cell lines by qRT-PCR.

This difference was also evident at the protein level, as shown for ACSM2. In liver, ACSM2 was the most abundant transcript, showing sixfold (vs. ACSM3) to >300-fold higher expression levels (vs. ACSM1). Mitochondrial localization of the ACSM2 protein and the presence of an N-terminal targeting sequence were shown by GFP-tagging. We have shown ACSM2B to be the predominant transcript in human liver, and genetic variations of this gene could therefore play an important role in disease susceptibility.
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