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Expression of DNA repair genes are important molecular findings in CD34+ stem ‐cells of Myelodysplastic Sydrome

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Source: European Journal of Haematology - Category: Hematology Authors: Tags: Letter to the Editor Source Type: research

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Publication date: Available online 22 September 2017 Source:Best Practice & Research Clinical Haematology Author(s): David P. Steensma The introduction into routine hematology-oncology clinical practice of molecular genetic testing assays based on next-generation sequencing platforms is prompting reassessment of the importance of molecular assay results in comparison to existing disease-specific risk stratification tools based on clinical assessment and light microscopy. For patients with myelodysplastic syndromes (MDS), the most commonly used tools for prognostication currently include the International Prognostic Sc...
Source: Best Practice and Research Clinical Haematology - Category: Hematology Source Type: research
Publication date: Available online 22 September 2017 Source:Advances in Biological Regulation Author(s): Richard N. Armstrong, Violetta Steeples, Shalini Singh, Andrea Sanchi, Jacqueline Boultwood, Andrea Pellagatti Mutations in splicing factor genes (SF3B1, SRSF2, U2AF1 and ZRSR2) are frequently found in patients with myelodysplastic syndromes (MDS), suggesting that aberrant spliceosome function plays a key role in the pathogenesis of MDS. Splicing factor mutations have been shown to result in aberrant splicing of many downstream target genes. Recent functional studies have begun to characterize the splicing dysfunction ...
Source: Advances in Biological Regulation - Category: Biology Source Type: research
Source: British Journal of Dermatology - Category: Dermatology Authors: Tags: Image Correspondence Source Type: research
This study aims to compare the proportion of peripheral blood T lymphocyte subsets and related blood cell and bone marrow cytology indexes between patients with aplastic anemia (AA) and hypoplastic myelodysplastic syndrome (hypo-MDS), and investigate the clinical identification significance. Materials and methods A total of 41 patients with AA and 46 patients with hypo-MDS were collected, and the proportions of peripheral blood T lymphocyte subsets, CD3− CD16/CD56+ NK cells, CD3+ CD57+ T-LGL cells and CD19+ B lymphocytes were detected by flow cytometry. Key findings The CD4+/CD8+ ratio decreased in the AA and hypo-MD...
Source: Life Sciences - Category: Biology Source Type: research
Conditions:   Acute Myeloid Leukemia;   Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome;   Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative;   Chronic Myelomonocytic Leukemia;   Essential Thrombocythemia;   Myelodysplastic/Myeloproliferative Neoplasm;   Myelofibrosis;   Polycythemia Vera;   Recurrent Adult Acute Myeloid Leukemia;   Refractory Acute Myeloid Leukemia Interventions:   Drug: Carboplatin;   Other: Laboratory Biomarker Analysis;   Oth...
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Abstract ObjectivesAlthough commonly associated with high‐grade myelodysplastic syndrome (MDS) and MDS with a complex karyotype, TP53 mutations also occur in low‐grade MDS and MDS with a non‐complex karyotype. In latter cases, their clinicopathological features and the characteristics of TP53 mutations remain poorly characterized. Methods176 MDS cases with TP53 mutations were stratified and characterized based on their karyotype and histologic subtype. ResultsAmong 176 cases, 17% had a non‐complex karyotype and 24% were low‐grade MDS. TP53 mutations often occurred in DNA binding domains and the majority of cases ...
Source: European Journal of Haematology - Category: Hematology Authors: Tags: Original Article Source Type: research
Publication date: 19 September 2017 Source:Cell Reports, Volume 20, Issue 12 Author(s): Charu Mehta, Kirby D. Johnson, Xin Gao, Irene M. Ong, Koichi R. Katsumura, Skye C. McIver, Erik A. Ranheim, Emery H. Bresnick Hematopoietic development requires the transcription factor GATA-2, and GATA-2 mutations cause diverse pathologies, including leukemia. GATA-2-regulated enhancers increase Gata2 expression in hematopoietic stem/progenitor cells and control hematopoiesis. The +9.5-kb enhancer activates transcription in endothelium and hematopoietic stem cells (HSCs), and its deletion abrogates HSC generation. The −77-k...
Source: Cell Reports - Category: Cytology Source Type: research
Source: Leukemia Research - Category: Hematology Authors: Tags: Research paper Source Type: research
i &M A Sekeres
Source: Leukemia - Category: Hematology Authors: Source Type: research
GATA-2 is a transcription factor expressed in haematopoietic stem cell cells involved in differentiation and in lymphatic development. Mutations in this molecule explain four different previously known syndromes: monocytopenia and mycobacterial infection syndrome (MonoMAC); dendritic cell, monocyte, B cell and NK cell lymphoid deficiency syndrome; familiar myelodysplastic syndrome/acute myeloid leukaemia syndrome and Emberger syndrome (primary lymphedema with myelodysplastic syndrome) [1,2].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research
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