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  1. Rosannah Cameron, PhD

    ... mutations. Our research involves using zebrafish with a mutation in a key splicing factor, sf3b1, to look at what happens to ... cells to further mutations. Our zebrafish have a mutation in a key splicing factor, sf3b1 (splicing factor 3b, subunit 1), ...

    Grant Recipient last updated 08/16/2016 - 1:17pm.

  2. MEDALIST Trial

    ... in bone marrow or ≥ 5% (but < 15%) if SF3B1 mutation is present. - < 5% blasts in bone marrow - ...

    Clinical Trial last updated 02/22/2017 - 11:42am.

  3. 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.

  4. IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.

    ... P=0.007) and SRSF2 (45.5% vs. 11.8%, P<0.001). IDH2 mutation was a poor prognostic factor for overall survival in patients with ... demonstrated that all IDH-mutated patients retained the same mutation during disease evolution while none of the IDH-wild patients acquired ...

    Research Article last updated 10/22/2013 - 12:48pm.

  5. SAA Patient Dominique Hughes Contributes to NIH Research

    ... who could potentially have this. The Check2 cancer mutation means that I have more of a chance to develop breast and ovarian ...

    Patient Chronicle last updated 03/21/2017 - 11:32am.

  6. Kim-Hien T. Dao, DO, PhD

    ... from patients who inherit a loss-of-function mutation in one of the genes of the Fanconi anemia pathway are ... cells from patients who inherit a loss-of-function mutation in one of the genes of the Fanconi anemia pathway are ...

    Grant Recipient last updated 10/01/2012 - 10:46am.

  7. Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases

    ... Amplicon Cancer Panel (Illumina) covering mutation hotspots of 53 genes. Overall, mutation(s) were detected in 58.6% of t-MDS/AML and 56.8% of de novo MDS/AML. ...

    Research Article last updated 03/02/2015 - 2:00pm.

  8. PNH - Basics

    ... PIG-A Gene Mutation PNH occurs because of a genetic change ( mutation ) in the PIG-A gene of a single stem cell in your bone ...

    Topic section last updated 04/05/2016 - 4:02pm.

  9. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

    ... in the matched MDS sample. Here we show that a missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently ... increased risk of progression to sAML associated with this mutation. U2AF1 is a U2 auxiliary factor protein that recognizes the AG splice ...

    Research Article last updated 01/09/2012 - 2:17pm.

  10. MDS Rounds: An AAMDSIF Visiting Faculty Program

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

    Page last updated 11/18/2016 - 12:55pm.