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Frequent pathway mutations of splicing machinery in myelodysplasia
The results provide the first evidence indicating that genetic alterations of the major splicing components could be involved in human pathogenesis, also implicating a novel therapeutic possibility for myelodysplasia.
Integrated molecular analysis of clear-cell renal cell carcinoma
This integrated molecular analysis of clear-cell renal cell carcinoma unmasked new correlations between DNA methylation, gene mutation and/or gene expression and copy number profiles, enabling the stratification of clinical risks for patients with ccRCC.
Frequent Pathway Mutations of Splicing Machinery in Myelodysplasia
Abstract 458 MDS and related disorders comprise a group of myeloid neoplasms characterized by deregulated blood cell production and a predisposition to AML. Although currently, a number of gene
Integrated molecular analysis of adult T cell leukemia/lymphoma
The identified alterations overlap significantly with the HTLV-1 Tax interactome and are highly enriched for T cell receptor–NF-κB signaling, T cell trafficking and other T cell–related pathways as well as immunosurveillance.
SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML).
The importance of SRSF2mut as new diagnostic marker in CMML is shown, with 93% of all patients with CMML carried at least 1 somatic mutation in 9 recurrently mutated genes.
Mutational landscape and clonal architecture in grade II and III gliomas
Mutations showed significant positive and negative correlations and a chronological hierarchy, as inferred from different allelic burdens among coexisting mutations, suggesting that there is functional interplay between the mutations that drive clonal selection.
Somatic RHOA mutation in angioimmunoblastic T cell lymphoma
Impaired RHOA function in cooperation with preceding loss of TET2 function contributes to AITL-specific pathogenesis, and it is demonstrated that the Gly17Val RHOA mutant did not bind GTP and also inhibited wild-typeRHOA function.
Autologous Induced Stem‐Cell–Derived Retinal Cells for Macular Degeneration: Brief Report
At 1 year after surgery, the transplanted sheet of retinal pigment epithelial cells remained intact, best corrected visual acuity had not improved or worsened, and cystoid macular edema was present.
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
A role for compromised cohesin functions in myeloid leukemogenesis is suggested by the growth of leukemic cell lines harboring a mutation in RAD21 or having severely reduced expression of RAD21 and STAG2 being suppressed by forced expression of wild-type RAD21 (Kasumi-1 cells and MOLM-13 cells).