TGF-β signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare and clinically heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. Although SDS was described more than 50 years ago, its molecular pathogenesis is poorly understood due, in part, to the...

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Gepubliceerd in:J Clin Invest
Hoofdauteurs: Joyce, Cailin E., Saadatpour, Assieh, Ruiz-Gutierrez, Melisa, Bolukbasi, Ozge Vargel, Jiang, Lan, Thomas, Dolly D., Young, Sarah, Hofmann, Inga, Sieff, Colin A., Myers, Kasiani C., Whangbo, Jennifer, Libermann, Towia A., Nusbaum, Chad, Yuan, Guo-Cheng, Shimamura, Akiko, Novina, Carl D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2019
Onderwerpen:
Concise Communication
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6715362/
https://ncbi.nlm.nih.gov/pubmed/31211692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI125375
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