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  1. 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.

  2. 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 fifty-percent variant allele ...

    Research Article last updated 08/15/2016 - 12:55pm.

  3. Alina Dulau Florea, MD

    ... (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 ...

    Grant Recipient last updated 01/12/2018 - 9:50am.

  4. MDS Rounds: An AAMDSIF Visiting Faculty Program

    ... relationship between clinical symptoms and genetic mutation profiles. •    During the past decade, extensive research ...

    Page last updated 01/24/2018 - 2:05pm.

  5. 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.

  6. 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.

  7. 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.

  8. Chao-Yie Yang, MD, PhD

    ... complement activation caused by a gene (PIG-A) mutation in hematopoietic stem cells has been characterized in PNH. ... complement activation caused by a gene (PGI-A) mutation has been characterized in PNH. Current only FDA-approved treatment ...

    Grant Recipient last updated 08/09/2016 - 1:02pm.

  9. 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.

  10. 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.