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  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. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. Mutations of myelodysplastic syndromes (MDS): An update

    ... as 'founder' mutations in over 50% MDS patients. TET2 mutation , through altered DNA methylation, has been found to have ...

    Research Article last updated 09/19/2016 - 11:02am.

  8. A Study of E6201 for the Treatment of Advanced Hematologic Malignancies With FLT3 Mutation (AML)

    ... advanced hematologic malignancies with documented FLT3 mutation . The Phase1 portion of the study will be a safety run-in to ... with relapsed or refractory AML and confirmed FLT3 mutation without prior exposure to a FLT3 inhibitor while Cohort 2 will enroll ...

    Clinical Trial last updated 05/09/2016 - 4:09pm.

  9. 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.

  10. 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.