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  1. Jeffrey Pu, MD, PhD

    ... Relevance of PIG-A mutations in acquired bone marrow failure diseases ... a multipotent hematopoietic stem cell (HSC) acquiring a PIG-A gene mutation . PIG-A mutations lead to the absence of ...

    Grant Recipient last updated 10/01/2013 - 1:51pm.

  2. Paroxysmal nocturnal hemoglobinuria from bench to bedside

    ... cell (HSC) that acquires a somatic mutation in a gene called phosphatidylinositol glycan anchor biosynthesis, class A (PIG-A). The PIG-A gene is required for the first step in ...

    Research Article last updated 10/11/2011 - 5:58pm.

  3. Recent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuria

    ... of an inactivating mutation of the X-linked gene PIG-A, are deficient in glycosylphosphatidylinositol (GPI)-linked ...

    Research Article last updated 06/07/2016 - 10:56am.

  4. PNH: Causes

    ... PNH occurs because of a change ( mutation ) in the PIG-A gene of a single stem cell in the bone marrow . This gene allows a ...

    Page last updated 06/29/2015 - 8:44am.

  5. Interviews with the Experts: The Complement System in PNH

    ... in PNH this GPI anchor is missing because of a mutation in a gene called PIG-A. This defective gene leads to cause the cell’s inability to form this ...

    Interview last updated 08/31/2016 - 8:39am.

  6. The mutational landscape of paroxysmal nocturnal hemoglobinuria revealed: new insights into clonal dominance

    ... a monogenic disorder due to acquisition of mutations in the gene encoding PIGA, which is required for glycosylphosphatidylinositol (GPI) ...

    Research Article last updated 10/02/2014 - 8:29am.

  7. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria

    ... disease that results from somatic mutations in the gene encoding PIGA, which is required for biosynthesis of ...

    Research Article last updated 10/02/2014 - 8:24am.

  8. Hideki Makishima, MD, PhD

    ... PNH is a disease in which a mutation in the gene called PIG-A is acquired in the stem cells (mother cells of all blood cells) ...

    Grant Recipient last updated 07/07/2014 - 11:46am.

  9. Paroxysmal nocturnal hemoglobinuria

    ... is almost always due to somatic mutations in PIGA, a gene involved in the first step of GPI anchor biosynthesis; however, ...

    Research Article last updated 10/02/2014 - 8:35am.

  10. David Araten, MD

    ... has as its feature the presence of a mutation in a gene called PIG-A. Different patients have different types of mutations in this gene, but ...

    Grant Recipient last updated 11/30/2016 - 10:51am.