Title |
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
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Published in |
BMC Medical Genomics, October 2013
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DOI | 10.1186/1755-8794-6-37 |
Pubmed ID | |
Authors |
Gianluigi Mazzoccoli, Rosella Tomanin, Tommaso Mazza, Francesca D’Avanzo, Marika Salvalaio, Laura Rigon, Alessandra Zanetti, Valerio Pazienza, Massimo Francavilla, Francesco Giuliani, Manlio Vinciguerra, Maurizio Scarpa |
Abstract |
Hunter syndrome (HS) is a lysosomal storage disease caused by iduronate-2-sulfatase (IDS) deficiency and loss of ability to break down and recycle the glycosaminoglycans, heparan and dermatan sulfate, leading to impairment of cellular processes and cell death. Cell activities and functioning of intracellular organelles are controlled by the clock genes (CGs), driving the rhythmic expression of clock controlled genes (CCGs). We aimed to evaluate the expression of CGs and downstream CCGs in HS, before and after enzyme replacement treatment with IDS. |
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India | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
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Italy | 1 | 3% |
Unknown | 38 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 8 | 21% |
Researcher | 8 | 21% |
Student > Master | 7 | 18% |
Student > Ph. D. Student | 3 | 8% |
Other | 3 | 8% |
Other | 3 | 8% |
Unknown | 7 | 18% |
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Computer Science | 2 | 5% |
Other | 4 | 10% |
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