ASXL1

Gene2 papers3 findingsHGNC 18318NCBI Gene 171023Taxon 9606

  • Humans2

Effects

2

AIM2

upin human cells1

1 study
  1. ASXL1 activates AIM2 in human cells.

    CellsASXL1-mutant human THP-1-derived macrophage-like cellsmacrophage

    ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint

AIM2 →

Valvular interstitial cell

upin human cells1

1 study
  1. ASXL1 induces valvular interstitial cell in human cells.

    Cellsmutant macrophages conditioned media

    ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint

Associations

1

Aortic valve stenosis

upin humans1

1 study
  1. ASXL1 is associated with aortic valve stenosis in humans.

    Humanslarge CHIP clones and non-DNMT3A CHIP subtypesn = 449,109

    ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification · medRxiv · 29 Sep 2026 · Preprint

Aortic valve stenosis →

Latest

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medRxivHumansPreprint

ASXL1 mutations in clonal hematopoiesis accelerate aortic valve calcification

Large human cohort data and cell experiments show that ASXL1-driven clonal hematopoiesis worsens aortic valve hemodynamics and promotes calcification…Large human cohort data and cell experiments show that ASXL1-driven clonal hematopoiesis worsens aortic valve hemodynamics and promotes calcification through inflammatory signaling.

Journal of Thoracic OncologyHumans

Clonal blood mutations in ASXL1 associate with higher lung cancer risk

Researchers analyzing two large human cohorts found that ASXL1-mutant clonal hematopoiesis linked to more than triple the risk of lung cancer in…Researchers analyzing two large human cohorts found that ASXL1-mutant clonal hematopoiesis linked to more than triple the risk of lung cancer in smokers.