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September 10, 2025LeukemiaOpen Access

Germline Jak2-R1063H mutation interferes with normal hematopoietic development and increases risk of thrombosis and leukemic transformation

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Authors

VZVeronika ZimolovaMBMonika BurócziováLBLinda Berková

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Overview

Observational analysis shows increased thrombosis and leukemic transformation in MPN with Jak2-R1063H mutation.

Key Points

  • Jak2-R1063H mutation contributes to severe myeloproliferative neoplasms and increased thrombosis.
  • The mutation led to marked mortality increases and elevated D-dimer levels in murine models.
  • Bone marrow studies revealed enhanced megakaryopoiesis and inflammatory signaling activation.
  • Presence of Jak2-R1063H variant in patients correlates with higher risk of thrombotic complications.

Cite This Study

Zimolova et al. (2025) studied this question.

synapsesocial.com/papers/68c1cc4754b1d3bfb60f4c70https://doi.org/10.1038/s41375-025-02737-w
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Functional characterization of a novel germline JAK2 R989fs mutation2025
  2. 2Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report2025
  3. 3Abstract 970: A Jak2-V617F knock-in mouse model for assessing therapeutic efficacy in myeloproliferative neoplasms2026
  4. 4PO51 | Thrombocythemia associated with a non-canonical JAK2 mutation: a case report2025
  5. 5A single <i>JAK2</i> ‐V617F hematopoietic stem cell can initiate myeloproliferative neoplasm when transplanted into non‐conditioned recipient mice2026