Search | Page 4 | Aplastic Anemia and MDS International Foundation

Search

Search results

  1. 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.

  2. 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.

  3. New study hails test to weigh SCT for MDS

    ... patient’s MDS was whether their blood cells carried a mutation in the gene TP53. These patients tended to survive for a shorter ... relapse more quickly, than patients whose cells lacked that mutation. This was true whether patients received standard “conditioning” ...

    Article last updated 02/09/2017 - 9:03am.

  4. 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.

  5. 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.

  6. Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts

    ... has a unique molecular basis, i.e., the somatic mutation of SF3B1, a gene encoding a splicing factor. Mutations of SF3B1 ... with altered function. Patients with MDS carrying the SF3B1 mutation show a homogeneous disease phenotype characterized by isolated ...

    Research Article last updated 08/15/2016 - 11:29am.

  7. 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.

  8. 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.

  9. 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.

  10. 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.