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  1. Implications of molecular genetic diversity in myelodysplastic syndromes

    ... syndromes (MDS) have remarkably diverse somatic mutation patterns that can be challenging to interpret clinically. Yet, ...

    Research Article last updated 12/09/2016 - 2:54pm.

  2. Paroxysmal Nocturnal Hemoglobinuria: From Bench to Bed

    ... of a hematopoietic progenitor cell that has acquired a mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene ...

    Research Article last updated 11/28/2016 - 11:40am.

  3. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

    ... the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction ...

    Research Article last updated 11/28/2016 - 9:29am.

  4. Distinct mutation profile and prognostic relevance in patients with hypoplastic myelodysplastic syndromes (h-MDS)

    Journal Title:  Oncotarget Primary Author:  Yao CY Author(s):  Yao CY, Hou HA...

    Research Article last updated 09/19/2016 - 11:07am.

  5. Pathogenesis of paroxysmal nocturnal hemoglobinuria

    ... (PNH) is an acquired GPI deficiency caused by somatic mutation of the PIGA gene in one or several hematopoietic stem cells . Recently, PNH caused by somatic mutation of one allele of the PIGT gene in combination with a germline mutation ...

    Research Article last updated 11/02/2016 - 2:52pm.

  6. Molecular Testing in Patients with Suspected Myelodysplastic Syndromes

    ... in MDS. Nearly 80 % of MDS patients have at least one mutation , and approximately 40 recurrent somatic mutations have been ...

    Research Article last updated 11/02/2016 - 10:09am.

  7. 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.

  8. AA&MDSIF announces PNH grant awards

    ... aplastic anemia . PNH is caused by a somatic mutation in the PIG-A gene , which is responsible for a cellular ... will be used to examine the functional effects of the PIG-A mutation in CD34+ cells and T- cells shared by PNH, MDS and aplastic anemia ...

    Article last updated 12/14/2016 - 11:41am.

  9. Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation

    ... HSCT ranged from 0% to 73%. CONCLUSION: Somatic mutation in ASXL1, RUNX1, or TP53 is independently associated with ...

    Research Article last updated 10/06/2016 - 3:00pm.

  10. Eculizumab in the management of paroxysmal nocturnal hemoglobinuria: patient selection and special considerations

    ... is a nonmalignant clonal disorder resulting from somatic mutation in the PIG-A gene leading to a deficiency of the ...

    Research Article last updated 09/13/2016 - 1:53pm.