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  1. 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.

  2. 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.

  3. Paroxysmal nocturnal hemoglobinuria and the age of therapeutic complement inhibition

    ... disease of hematopoietic stem cells due to a mutation in the PIG-A gene leading to a deficiency of GPI-anchored ...

    Research Article last updated 11/05/2013 - 12:37pm.

  4. Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion.

    ... all ages. PNH is caused by the acquisition of a somatic mutation of the gene phosphatidylinositol glycan anchor (PIG-A) in a ... cell (HSC), with clonal expansion of the mutated HSC. The mutation causes a deficiency in the synthesis of glycosylphosphatidylinositol ...

    Research Article last updated 05/14/2013 - 3:28pm.

  5. 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.

  6. 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.

  7. 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.

  8. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact

    ... by fluorescence in situ hybridization , molecular mutation screening, and array comparative genomic hybridization (aCGH). By ...

    Research Article last updated 01/08/2014 - 8:30am.

  9. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 03/05/2013 - 9:38am.

  10. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 10/02/2012 - 9:57am.