Publications by authors named "H H ABEL"
Objective: To establish quick-reference criteria regarding the frequency of statistically rare changes in seven neuropsychological measures administered to older adults.
Method: Data from 935 older adults examined over a two-year interval were obtained from the Alzheimer's Disease Neuroimaging Initiative. The sample included 401 cognitively normal older adults whose scores were used to determine the natural distribution of change scores for seven cognitive measures and to set change score thresholds corresponding to the 5 percentile.
Here, we characterize the DNA methylation phenotypes of bone marrow cells from mice with hematopoietic deficiency of or (or both enzymes) or expressing the dominant-negative mutation [R882H in humans; the most common mutation found in acute myeloid leukemia (AML)]. Using these cells as substrates, we defined DNA remethylation after overexpressing wild-type (WT) DNMT3A1, DNMT3B1, DNMT3B3 (an inactive splice isoform of DNMT3B), or DNMT3L (a catalytically inactive "chaperone" for DNMT3A and DNMT3B in early embryogenesis). Overexpression of for 2 weeks reverses the hypomethylation phenotype of Dnmt3a-deficient cells or cells expressing the R878H mutation.
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- The study utilizes ultra-deep exome sequencing to analyze the scarce malignant Hodgkin and Reed Sternberg (HRS) cells in classical Hodgkin lymphoma (cHL), enabling better detection of somatic mutations compared to traditional methods.* -
- Researchers identified novel mutations in several genes and recurrent patterns affecting pathways related to Hippo signaling, thereby expanding the understanding of genetic factors involved in cHL.* -
- Additionally, single-nuclei RNA sequencing confirmed the presence of somatic mutations in specific cell clusters, providing insight into the malignant characteristics of HRS cells and establishing a methodology for future genomic studies in larger cHL patient cohorts.*
Article Synopsis
- TP53-mutated myeloid malignancies show complex genetic alterations, making it challenging to analyze using standard clinical techniques; whole-genome sequencing (WGS) was used on 42 cases to give clearer genomic insights.
- WGS allowed for accurate identification of TP53 mutations, reclassifying 12% of cases to indicate more complex mutation patterns, and revealed specific chromosome abnormalities linked to cancer type rather than just aneuploidy and chromothripsis.
- The study found reduced ETV6 expression in most cases, a significant presence of NF1 mutations, and increased telomere content, emphasizing the distinct genetic features of TP53-mutated acute myeloid leukemia and myelodysplastic syndromes. *
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels.
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