ReviewLeukemia2019
The functional mechanisms of mutations in myelodysplastic syndrome.
Review in Leukemia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Guideline
- Bone marrow immunosuppressive states associate with survival after guadecitabine and atezolizumab therapy in HMA-R/R MDS.Blood neoplasia · 2026Article
- Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex.American journal of hematology · 2026Observational
- Bone marrow microenvironment reprogramming in myelodysplastic neoplasms: from pathological mechanisms to targeted therapeutic strategies.Frontiers in immunology · 2026Review
- Emerging trends in bone marrow organoid research: From hematopoietic microenvironment reconstruction to translational and regenerative theranostic applications.Theranostics · 2026Review
- Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.NPJ genomic medicine · 2025Article
- Myelodysplastic neoplasm-associated U2AF1 mutations induce host defense defects by compromising neutrophil chemotaxis.Leukemia · 2023Article
- Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.Molecular biology reports · 2023Article
- Review
- The Genetic Landscape of Myelodysplastic Neoplasm Progression to Acute Myeloid Leukemia.International journal of molecular sciences · 2023Review
- Molecular Drivers of Myelodysplastic Neoplasms (MDS)-Classification and Prognostic Relevance.Cells · 2023Review
- Impact of single versus multiple spliceosome mutations on myelodysplastic syndrome.Journal of clinical and experimental hematopathology : JCEH · 2023Article
- Predicting leukemic transformation in myelodysplastic syndrome using a transcriptomic signature.Frontiers in genetics · 2023Article
- Impairment of FOXM1 expression in mesenchymal cells from patients with myeloid neoplasms, de novo and therapy-related, may compromise their ability to support hematopoiesis.Scientific reports · 2022Article
- Srsf2Leukemia · 2022Article
- Proteomic Case Studies of MDS in Progression: Heterogeneity and More HeterogeneityTurkish journal of haematology : official journal of Turkish Society of Haematology · 2022Article
- Myelodysplastic syndromes.Nature reviews. Disease primers · 2022Review
- Epigenetic traits inscribed in chromatin accessibility in aged hematopoietic stem cells.Nature communications · 2022Article
- ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.Blood advances · 2022Article
- The genetics of myelodysplastic syndromes and the opportunities for tailored treatments.Frontiers in oncology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Overlapping spectrum of mutated genes affected in myelodysplastic syndrome (MDS) and primary acute myeloid leukemia suggest common pathogenic mechanisms. However, the frequencies of specific mutations are significantly different between them, which implies they might determine specific disease phenotype. For instance, there are overrepresentations of mutations in RNA splicing factors or epigenetic regulators in MDS. We provide an overview of recent advances in our understanding of the biology of MDS and related disorders. Our focus is how mutations of in splicing factors or epigenetic regulators identified in MDS patients demonstrate phenotypes in knockin/knockout mouse models. For instance, mutant Srsf2 mice could alter Srsf2's normal sequence-specific RNA binding activity. It exhibited changing in the recognition of specific exonic splicing enhancer motifs to drive recurrent missplicing of Ezh2, which reduces Ezh2 expression by promoting nonsense-mediated decay. Consistent with this, SRSF2 mutations are mutually exclusive with EZH2 loss-of-function mutations in MDS patients. We also review how gene editing technology identified unique associations between pathogenic mechanisms and targeted therapy using lenalidomide, including: (i) how haploinsufficiency of the genes located in the commonly deleted region in del(5q) MDS patients promotes MDS; (ii) how lenalidomide causes selective elimination of del(5q) MDS cells; and (iii) why del(5q) MDS patients become resistant to lenalidomide. Thus, this review describes our current understanding of the mechanistic and biological effects of mutations in spliceosome and epigenetic regulators by comparing wild-type normal to mutant function as well as a brief overview of the recent progresses in MDS biology.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.