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  1. Study of Orally Administered AG-120 in Subjects With Advanced Hematologic Malignancies With an IDH1 Mutation

    ... in advanced hematologic malignancies that harbor an IDH1 mutation . The first portion of the study is a dose escalation phase where ...

    Clinical Trial last updated 05/03/2016 - 11:37am.

  2. Clinical trial reveals genetic fault that reduces the effectiveness of leukemia treatment

    ... worse outcome if their cancer cells carried a mutation to the CDKN2A gene. The results may help doctors tailor treatment ... This is the first time that mutations in the CDKN2A gene mutation have been linked to poorer survival in people with AML treated with ...

    Research Article last updated 09/29/2017 - 10:32am.

  3. Targeted next-generation sequencing in myelodysplastic syndromes and prognostic interaction between mutations and IPSS-R

    ... 17% intermediate, 38% low and 16% very low. At least one mutation /variant was detected in 147 (82%) patients; 23% harbored three or ... 41% and 20% of patients harbored at least one adverse mutation/variant for overall and leukemia-free survival, respectively. Number ...

    Research Article last updated 09/18/2017 - 11:05am.

  4. Characterization of TP53 Mutations in Low-Grade Myelodysplastic Syndromes and Myelodysplastic Syndromes with a Non-Complex Karyotype

    ... binding domains and the majority of cases had only one mutation , irrespective of their karyotype and MDS subtype. The variant ...

    Research Article last updated 10/02/2017 - 10:56am.

  5. Somatic HLA mutations expose the role of class I–mediated autoimmunity in aplastic anemia and its clonal complications

    ... HLA-B *40:02 alleles. Three patients had more than 1 mutation targeting the same HLA allele. Interestingly, HLA-B *14:02 and ... who inherited the targeted HLA alleles, regardless of HLA mutation status, had a more severe disease course with more frequent clonal ...

    Research Article last updated 10/23/2017 - 10:56am.

  6. David Araten, MD

    ... cells. This clone has as its feature the presence of a mutation in a gene called PIG-A. Different patients have different types of ... PNH. We have recently found 4 patients with PNH who have a mutation in genes other than PIG-A--  the JAK2 and the TET2 genes. Three out ...

    Grant Recipient last updated 11/30/2016 - 10:51am.

  7. T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways

    ... thrombosis . The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene ( PIG-A ) on the ...

    Research Article last updated 07/27/2017 - 2:06pm.

  8. 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.

  9. T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways

    ... thrombosis . The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X ...

    Research Article last updated 07/11/2017 - 10:43am.

  10. New Insight Into the Biology, Risk Stratification, and Targeted Treatment of Myelodysplastic Syndromes

    ... Although many MDS cases harbor more than one somatic mutation , in general, there is mutual exclusivity of mutated genes within a ...

    Research Article last updated 06/26/2017 - 9:16am.