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

    ... cells that, as a consequence of an inactivating mutation of the X-linked gene PIG-A, are deficient in ...

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

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

    ... sequence of events leading to PNH and why is a genetic mutation responsible? When the complement system is activated, it ... – but in PNH this GPI anchor is missing because of a mutation in a gene called PIG-A. This defective gene leads to cause the ...

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

  3. Prevalence, clinical characteristics and prognosis of GATA2-related myelodysplastic syndromes (MDS) in children and adolescents

    ... to therapy or acquired aplastic anemia . Mutation carriers were older at diagnosis and more likely to present with ...

    Research Article last updated 04/29/2016 - 10:24am.

  4. Effect of lenalidomide treatment on clonal architecture of myelodysplastic syndromes without 5q deletion

    ... was also determined in 5 cases. Four genes had a mutation frequency over 10%: SF3B1 (74.5%), TET2 (45.7%), DNMT3A (20.2%) ...

    Research Article last updated 04/29/2016 - 11:33am.

  5. Top expert calls future MDS/AML care “promising”

    ... about this. Let’s say you have a very particular mutation that happens in 1% or 2% of the patients with this disease. ... “OK, this is exactly what the patient has, this is the mutation that the patient has, etcetera.” Then, maybe you work with the ...

    Article last updated 11/02/2016 - 11:28am.

  6. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.

    ... of a MDS patient, we identified a somatic mutation in BCOR gene also mutated in AML. Sequencing of BCOR and related ... dependence, ASXL1, CBL, RUNX1, TEL/ETV6, and TP53 mutation status confirmed a significant inferior OS to patients with BCOR mutation (HR: 3.3; 95%CI 1.4-8.1; P=0.008). These data suggest that BCOR ...

    Research Article last updated 07/29/2014 - 12:11pm.

  7. Announcing AAMDSIF 2016 Research Awards

    ... (PNH). In this condition, due to a gene mutation , some bone marrow cells and their progeny in the blood lack an ... swallowing, or develop blood clots. The cause of the gene mutation is unknown. Some patients with other conditions, such as aplastic ...

    Article last updated 06/09/2016 - 12:45pm.

  8. Major news in BMT with half-match donors

    ... had specific mutations in his cancer cells. We found a mutation called IDH 2, which causes the body to produce an abnormal protein that promotes excessive cell growth. If you can target that mutation and stop the abnormal protein from being produced, then cells start ...

    Article last updated 06/14/2016 - 3:02pm.

  9. 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.

  10. 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.