The advent of genome sequencing has not only identified many new disease genes not previously associated with human disease, but also identified novel phenotypes linked to known disease genes, thereby expanding the phenotypic spectrum. For the purposes of clinical diagnostic testing, the focus must be...
To validate the use of the artificial construct as a target for large-scale X-ray and NMR screening campaigns in the search for new inhibitors of hQC, the X-ray crystal structures of the hQC Y115E–Y117E variant and of its adduct with the inhibitor PBD-150 were determined....
A major strength of single-cell approaches is the ability to reveal heterogeneity within an annotated cell type or state, particularly among those previously thought to be homogeneous. Given the success of SCAVENGE to identify cell type associations across human hematopoiesis, we were next interested ...
Systematic evaluation of the impact of genetic variants is critical for the study and treatment of human physiology and disease. While specific mutations can be introduced by genome engineering, we still lack scalable approaches that are applicable to the important setting of primary cells, such as ...
2b). By serially diluting sera on cell culture plates, we observed that the nAbs evoked by HR121 were highly inhibitory, preventing VSV pseudotyped SARS-CoV-2 env (Wuhan-Hu-1 strain) entry into 293T-hACE2 cells and authentic SARS-CoV-2 prototype strain replication in human pulmonary ...
Different algorithms exhibit characteristic error profiles, and, intriguingly, false positives show a trinucleotide profile very similar to one found in human tumors. Although the three simulated tumors differ in sequence contamination (deviation from normal cell sequence) and in subclonality, an ensemble...
CD33 is genetically linked to Alzheimer’s disease (AD) susceptibility through differential expression of isoforms in microglia. The role of the human CD33 short isoform (hCD33m), preferentially encoded by an AD-protective CD33 allele (rs12459419T), is u
Human embryonic stem cells (hESCs) have emerged as an important tool for disease modeling, drug development, and tissue repair51. To demonstrate the utility of e18 as a stimulator of precision genome editing in hESCs, we introduced a point mutation in the CALD1 gene using an ssODN52 and ta...
We included peer-reviewed articles, written in English, and presenting original research with human data only. Screening was first conducted at the title or abstract level in Rayyan.13 Reference lists were additionally cross-checked for eligible studies. Two independent reviewers (R.O. and E.H.S...
Finally, we exploredAXIN2expression and enhancer activation patterns in two commonly used human CLL lines: OSU-CLL and MEC1 which are heterozygous and homozygous REF, respectively, as verified by Sanger sequencing (Supplementary Fig.5a). As demonstrated in Supplementary Fig.5b, we found thatAXIN2...