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  1. Paroxysmal nocturnal hemoglobinuria from bench to bedside

    ... hematopoietic stem cell (HSC) that acquires a somatic mutation in a gene called phosphatidylinositol glycan anchor biosynthesis, ...

    Research Article last updated 10/11/2011 - 5:58pm.

  2. Current state of prognostication and risk stratification in myelodysplastic syndromes

    ... SUMMARY: How to best use the results of molecular mutation testing to inform clinical decision making in MDS is still a work ...

    Research Article last updated 03/02/2015 - 1:38pm.

  3. Myelodysplastic syndromes: Contemporary review and how we treat

    ... MDS. Going forward, we believe it is time to incorporate mutation information in clinically derived prognostic models in MDS and ...

    Research Article last updated 04/29/2016 - 1:05pm.

  4. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation.

    ... shorter OS. Nearly one half of patients (46%) carried a mutation in TP53, DNMT3A, or TET2 and accounted for 64% of deaths. ...

    Research Article last updated 10/01/2014 - 10:59am.

  5. p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q)

    ... cells with strong p53 expression confirmed TP53 mutation , whereas cells with moderate expression were predominantly of ...

    Research Article last updated 04/23/2014 - 12:26pm.

  6. Key clinical observations after 5-azacytidine and decitabine treatment of myelodysplastic syndromes suggest practical solutions for better outcomes

    ... that there can be no therapeutic benefit, regardless of mutation or cytogenetic subtype, if DNA methyltransferase is not depleted ...

    Research Article last updated 01/08/2014 - 9:30am.

  7. Epigenetic regulation in myelodysplastic syndromes: implications for therapy.

    ... and high-risk MDS. Methylation profiles and gene mutation predictors provide promising areas of development for monitoring ...

    Research Article last updated 10/11/2011 - 5:58pm.

  8. PNH: Causes

    ... What causes PNH? PNH occurs because of a change ( mutation ) in the PIG-A gene of a single stem cell in the bone ...

    Page last updated 06/29/2015 - 8:44am.

  9. Shirley O’Brien’s Remarkable Response in a Clinical Trial

    ... had failed. After another bone marrow biopsy, a genetic mutation (the IDH1 gene) was identified. Then, the shocking statement was ... Leigh Clark, what my issues were and my specific genetic mutation. She immediately wrote me back:  "Hang on and give me 24 hours". In ...

    Patient Chronicle last updated 07/19/2017 - 8:12am.

  10. Jeffrey Pu, MD, PhD

    ... stem cell (HSC) acquiring a PIG-A gene mutation . PIG-A mutations lead to the absence of ... a better response to immunosuppressive therapy; 3) PIG-A mutation significantly increased in some human cell lines with genomic ... at progenitor level and are transient. The PIG-A mutation frequency in MDS patients harboring PNH-like cells were 10 to 100 ...

    Grant Recipient last updated 10/01/2013 - 1:51pm.