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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Bezzerri, Valentino, Vella, Antonio, Calcaterra, Elisa, Finotti, Alessia, Gasparello, Jessica, Gambari, Roberto, Assael, Baroukh Maurice, Cipolli, Marco, Sorio, Claudio
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha: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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