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  1. The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells

    ... a multipotent hematopoietic stem cell acquiring a PIG-A mutation . Many patients with aplastic anemia and ... T lymphocyte enrichment in proaerolysin selection. PIG-A mutation analyses on 3 patients showed that all of them harbored a matching ...

    Research Article last updated 06/15/2012 - 1:48pm.

  2. Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia

    ... comprise a poor-risk subset of MDS/AML. Large scale mutation profiling efforts in de novo MDS have identified mutations ... followed by TET2 in 4/38 (10.5%). Cases with a TP53 mutation or loss of the TP53 locus had a worse overall survival compared to ...

    Research Article last updated 02/04/2013 - 2:39pm.

  3. Advances in the molecular pathology of MDS

    ... clinical practice. The frequent finding of more than one mutation in patients confirms that MDS are a group of heterogeneous ...

    Research Review last updated 05/02/2016 - 9:44am.

  4. Myelodysplastic syndromes: Contemporary review and how we treat

    ... MDS. Going forward, we believe it is time to incorporate mutation information in clinically derived prognostic models in MDS and ...

    Research Article last updated 04/29/2016 - 1:05pm.

  5. Paroxysmal nocturnal hemoglobinuria and the age of therapeutic complement inhibition

    ... disease of hematopoietic stem cells due to a mutation in the PIG-A gene leading to a deficiency of GPI-anchored ...

    Research Article last updated 11/05/2013 - 12:37pm.

  6. Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion.

    ... all ages. PNH is caused by the acquisition of a somatic mutation of the gene phosphatidylinositol glycan anchor (PIG-A) in a ... cell (HSC), with clonal expansion of the mutated HSC. The mutation causes a deficiency in the synthesis of glycosylphosphatidylinositol ...

    Research Article last updated 05/14/2013 - 3:28pm.

  7. Current state of prognostication and risk stratification in myelodysplastic syndromes

    ... SUMMARY: How to best use the results of molecular mutation testing to inform clinical decision making in MDS is still a work ...

    Research Article last updated 03/02/2015 - 1:38pm.

  8. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact

    ... by fluorescence in situ hybridization , molecular mutation screening, and array comparative genomic hybridization (aCGH). By ...

    Research Article last updated 01/08/2014 - 8:30am.

  9. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 03/05/2013 - 9:38am.

  10. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 10/02/2012 - 9:57am.