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Article

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.

British journal of haematology - 1 May 2007

De Vita Serena, Mulligan Claire, McElwaine Suzanne, Dagna-Bricarelli Franca, Spinelli Monica, Basso Giuseppe, Nizetic Dean, Groet Jürgen

Abstract excerpt

Acquired mutations activating Janus kinase 3 (jak3) have been reported in Down syndrome (DS) and non-DS patients with acute megakaryoblastic leukaemia (AMKL). This highlighted jak3-activation as an important event in the pathogenesis of AMKL, and predicted inhibitors of jak3 as conceptual therapeutics for AMKL. Of 16 DS-transient myeloproliferative disorder (TMD)/AMKL patients tested, seven showed JAK3 mutations....

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Share to Down Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Janus Kinase 3

Share to Leukemia, Megakaryoblastic, Acute

Share to Protein-Tyrosine Kinases

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 17456055
DOI: 10.1111/j.1365-2141.2007.06574.x

Genes

JAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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