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  1. TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases

    ... BACKGROUND: TP53 mutation is more prevalent in therapy-related myeloid neoplasms (t-MN) ... t-MN, in which 40 patients (37%) had TP53 mutations. The mutation frequency was similar between t-MDS and t-AML; but significantly ...

    Research Article last updated 07/20/2018 - 5:15pm.

  2. SF3B1 mutations in patients with myelodysplastic syndromes: the mutation is stable during disease evolution

    ... The SF3B1 mutation can be detected in patients with myelodysplastic syndrome (MDS), but the report regarding the association of this mutation with other genetic alterations and its stability during disease ...

    Research Article last updated 07/20/2018 - 5:15pm.

  3. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

    ... sequencing screen identified a single nonsense PIGA mutation , c.1234C>T, which predicts p.Arg412(∗). This variant segregated ... The genetic data show that the c.1234C>T (p.Arg412(∗)) mutation is present in an affected child, is linked to the affected chromosome ...

    Research Article last updated 07/20/2018 - 5:14pm.

  4. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria

    ... within the PIGA-mutant population, or prior to PIGA mutation . Together, our data indicate that in addition to PIGA mutations, ...

    Research Article last updated 07/20/2018 - 5:15pm.

  5. Causes

    ... PNH happens because of a change ( mutation ) in the PIG-A gene of a single stem cell in your bone ... people have a small number of stem cells with a PIG-A mutation. But in people with PNH, these stem cells grow fast and make lots of ...

    Topic section last updated 07/30/2018 - 2:12pm.

  6. SAA Patient 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 07/31/2018 - 1:14pm.

  7. Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes

    Journal Title:  Leukemia Primary Author:  Sallman DA Author(s):  Sallman DA, ...

    Research Article last updated 07/20/2018 - 5:15pm.

  8. The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

    Journal Title:  Blood Cancer J Primary Author:  McGraw KL Original Publication Date:  ...

    Research Article last updated 07/20/2018 - 5:15pm.

  9. Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

    Journal Title:  Nat Commun. Primary Author:  Gerstung M Author(s):  Gerstung ...

    Research Article last updated 07/20/2018 - 5:15pm.

  10. Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation

    Journal Title:  Blood Cancer J Primary Author:  Sugimori C Author(s):  Sugimo...

    Research Article last updated 07/20/2018 - 5:14pm.