Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

NATURE GENETICS（2015）

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摘要

Isabelle Plo, Christine Bellanné-Chantelot, William Vainchenker and colleagues report a 700-kb germline duplication including the ATG2B and GSKIP genes in four related families with myeloid malignancy predisposition. Using induced pluripotent stem cells and primary cells, they demonstrate that ATG2B and GSKIP enhance hematopoietic progenitor differentiation.

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Diseases,Leukaemia,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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