Acute Myeloid Leukemia Research

The paper identifies transcription factors regulating MHC-II expression in AML and shows their role in immune evasion and relapse.

This study tracks clonal dynamics in human haematopoiesis across age, finding that clonal diversity sharply declines after 70, driven by positive selection on many genes and loss of Y chromosome in males.

The paper develops a cost-effective sequencing assay to detect clonal hematopoiesis and shows that most clonal mutations expand over time in longitudinal samples.

This study identifies secondary genetic events in KMT2A-PTD patients, showing their association with disease progression and higher RNA expression.

The paper identifies a modular core regulatory circuitry in AML that enforces oncogene expression in KMT2A-rearranged leukemias.

The paper investigates the prevalence of clonal hematopoiesis of indeterminate potential (CHIP) in people living with HIV and finds a higher prevalence compared to controls.

This study shows that Kdm6a deficiency in mouse hematopoietic cells leads to age- and sex-dependent myelodysplastic syndrome-like features without overt leukemia.

This study identifies two genome-wide significant susceptibility loci for acute myeloid leukemia through a meta-analysis of GWAS data.

This study identifies IRF4 variants associated with increased risk of de novo AML and MDS through GWAS and TWAS analyses using the DISCOVeRY-BMT cohorts.

The paper shows that alternative splicing contributes to gene disruption in AML, increasing the number of patients with functional gene loss beyond what is detected by mutations alone.

The paper identifies and profiles leukemic and pre-leukemic stem cells using single-cell transcriptomics combined with lineage tracing via somatic variants.

This study examines NPM1 mutations in Sudanese AML patients and finds no mutations, indicating all patients have wild-type NPM1.

This paper develops a computational-experimental approach to design patient-specific drug combinations for AML that are synergistic and minimally toxic.

The paper shows that different RUNX1 mutations alter gene regulatory networks and chromatin programming, leading to distinct hematopoietic differentiation trajectories and disease phenotypes.

The paper defines a small core transcriptional circuit regulated by AML1-ETO using CRISPR-based degradation and transcriptomic analysis.

The paper analyzes expression of 12 retroviral-like genes in AML patients and finds ERV3-1 is highly expressed in myeloid lineage cells, potentially linked to chromosome 8 trisomy.

The paper examines TP53 allelic states in MDS patients, finding that bi-allelic targeting is linked to worse outcomes, while mono-allelic targeting does not differ from wild-type patients.

The paper identifies endogenous retroviruses (ERVs) as a source of oncogenic enhancers in acute myeloid leukemia (AML) and shows their role in altering gene expression and promoting cell growth.

This study shows that Tet2 loss-of-function in AML cells alters cell-state transitions, improving survival during drug treatment and contributing to relapse.

The paper identifies inherited and acquired genetic variants that increase susceptibility to clonal hematopoiesis by influencing clonal selection through monogenic and polygenic mechanisms.

This paper validates and implements a quantitative real-time PCR method for monitoring NPM1 Type A mutations in AML, showing it is sensitive and reproducible for clinical use.

This study performs a meta-analysis of AML patient data to identify age- and sex-dependent gene expression signatures and pathways associated with the disease.

The paper shows that age-related clonal haemopoiesis is linked to accelerated epigenetic age.

The paper identifies five novel nsSNPs in the CEBPA gene associated with AML using computational methods and suggests their potential as diagnostic markers.