Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.
Cells
December 2024
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Mutations in the genes , , and cause three clinically overlapping thrombocytopenias characterized by a predisposition to hematological neoplasms. The gene, which encodes a protein involved in protein-protein interactions, is downregulated by RUNX1 during megakaryopoiesis. Mutations in 5'UTR of ANKRD26, leading to ANKRD26-RT, disrupt this regulation, resulting in the persistent expression of ANKRD26, which leads to impaired platelet biogenesis and an increased risk of leukemia.
View Article and Find Full Text PDFWBP1L regulates hematopoietic stem cell function and T cell development.
Front Immunol
November 2024
Laboratory of Leukocyte Signalling, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czechia.
Article Synopsis
- WBP1L (also known as OPAL1) is a protein linked to better outcomes in childhood leukemia and is involved in regulating hematopoiesis and CXCR4 signaling.
- Mice lacking WBP1L show dysregulated hematopoiesis, with enlarged thymi and increased thymocyte counts, likely due to the enhancement of multipotent progenitors in the bone marrow.
- The study highlights WBP1L's role in maintaining hematopoietic stem cell functionality, influencing leukocyte progenitor growth, and improving outcomes during stem cell transplants.
Identification of Genomic Biomarkers of Disease Progression and Survival in Primary CNS Lymphoma.
Blood Adv
November 2024
UCSF, San Francisco, California, United States.
Article Synopsis
- Researchers studied genetic variations in primary CNS lymphoma (PCNSL) to find markers that could predict patient outcomes and responses to treatment.
- They analyzed samples from 78 patients, finding that specific genetic changes, particularly on chromosome 6p and mutations in certain tumor suppressor genes, were linked to a high rate of disease progression and mortality.
- The findings suggest that identifying these genetic markers can help doctors assess patient risk and customize therapies, leading to better treatment strategies in PCNSL.
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13).
Genes Chromosomes Cancer
November 2024
Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Article Synopsis
- Acute myeloid leukemia (AML) with the t(7;12) translocation is common in infants and has been recognized by the WHO, although the exact mechanism behind its development is unclear.
- A study of 12 pediatric AML cases with this translocation found no significant difference in survival rates compared to other AML types, but noted a consistent high expression of MNX1 across all cases.
- Whole transcriptome and genome sequencing revealed various fusion transcripts, primarily involving NOM1, but emphasized the importance of MNX1's overexpression as the key driving factor in this AML subtype.
Potential molecular mechanisms of ETV6-RUNX1-positive B progenitor cell cluster in acute lymphoblastic leukemia revealed by single-cell RNA sequencing.
PeerJ
November 2024
Neurosurgery Department, Jinzhou Central Hospital, Jinzhou, China.
Article Synopsis
- The study aimed to investigate the immune landscape and immune cell roles in the progression of acute lymphoblastic leukemia (ALL), focusing particularly on the ETV6-RUNX1 genetic alteration common in childhood cases.
- Using advanced techniques like single-cell RNA sequencing, researchers analyzed B progenitor cells from bone marrow samples, identifying specific gene expressions and pathways that may drive rapid cell cycle progression in ALL.
- Results highlighted distinct clusters of B progenitor cells, particularly one with amplified genes on chromosome 6p that were linked to increased cell cycle activity, underscoring the complexity of immune interactions in the disease's progression.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!