New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes

Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact function. SDS patients present several hematological disorders, including neutropenia and myelodysplastic syndrome (MDS), with increased risk of l...

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הוצא לאור ב:Sci Rep
Main Authors: Bezzerri, Valentino, Vella, Antonio, Calcaterra, Elisa, Finotti, Alessia, Gasparello, Jessica, Gambari, Roberto, Assael, Baroukh Maurice, Cipolli, Marco, Sorio, Claudio
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2016
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC5034238/
https://ncbi.nlm.nih.gov/pubmed/27658964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33165
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