Ontology highlight
ABSTRACT:
OTHER RELATED OMICS DATASETS IN: PRJNA188332
ORGANISM(S): Mus musculus
SUBMITTER: Jacob M Rowe Kara Kelly Elisabeth Paietta Wendy K Chung Wei Tong Giuseppe Basso Michael Hadler Arianne Perez-Garcia Isaura Rigo Charles A LeDuc Adolfo A Ferrando Janis Racevskis Martin S Tallman Chaim Jalas Maddalena Paganin Alberto Ambesi-Impiombato
PROVIDER: E-GEOD-44025 | ArrayExpress | 2013-11-06
SECONDARY ACCESSION(S): GSE44025PRJNA188332
REPOSITORIES: GEO, ArrayExpress
Action | DRS | |||
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E-GEOD-44025.idf.txt | Idf | |||
E-GEOD-44025.processed.1.zip | Processed | |||
E-GEOD-44025.raw.1.zip | Raw | |||
E-GEOD-44025.sdrf.txt | Txt |
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Blood 20130801 14
The SH2B adaptor protein 3 (SH2B3) gene encodes a negative regulator of cytokine signaling with a critical role in the homeostasis of hematopoietic stem cells and lymphoid progenitors. Here, we report the identification of germline homozygous SH2B3 mutations in 2 siblings affected with developmental delay and autoimmunity, one in whom B-precursor acute lymphoblastic leukemia (ALL) developed. Mechanistically, loss of SH2B3 increases Janus kinase-signal transducer and activator of transcription si ...[more]