Publications by authors named "H E Lockstone"
Article Synopsis
- Mutations in the Nuclear factor I/X (NFIX) gene are linked to two skeletal disorders, Marshall-Smith syndrome (MSS) and Malan syndrome (MAL), affecting gene expression in nervous tissue.
- Researchers analyzed fibroblast cell lines from MSS patients and controls, discovering that certain frameshift mutations produced truncated NFIX proteins while not significantly impacting other gene expressions.
- Further studies involving RNA sequencing revealed 191 misregulated transcripts and 815 proteins in affected cells, identifying specific genes like cellular retinoic acid binding protein 2 and vascular cell adhesion molecule 1 as potential targets for drug development.
Aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM) are distinct disorders leading to left ventricular hypertrophy (LVH), but whether cardiac metabolism substantially differs between these in humans remains to be elucidated. We undertook an invasive (aortic root, coronary sinus) metabolic profiling in patients with severe AS and HCM in comparison with non-LVH controls to investigate cardiac fuel selection and metabolic remodeling. These patients were assessed under different physiological states (at rest, during stress induced by pacing).
View Article and Find Full Text PDFThe nuclear factor I/X () gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense-mediated decay (NMD) leading to NFIX haploinsufficiency, whereas mutations associated with MSS are clustered in exons 6-10 and escape NMD and result in the production of dominant-negative mutant NFIX proteins. Thus, different mutations have distinct consequences on expression.
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- Scientists are trying to find a better way to measure inflammation in blood vessels of COVID-19 patients to help figure out who might have serious issues later and who might benefit from treatments.
- They created a new system using artificial intelligence that looks at images from CT scans to help identify this inflammation, called C19-RS.
- Their study showed that COVID-19 patients had higher levels of this C19-RS, and those with certain virus variants were even more likely to have serious complications, helping doctors predict who might not survive their hospital stay.
Aberrant replication causes cells lacking BRCA2 to enter mitosis with under-replicated DNA, which activates a repair mechanism known as mitotic DNA synthesis (MiDAS). Here, we identify genome-wide the sites where MiDAS reactions occur when BRCA2 is abrogated. High-resolution profiling revealed that these sites are different from MiDAS at aphidicolin-induced common fragile sites in that they map to genomic regions replicating in the early S-phase, which are close to early-firing replication origins, are highly transcribed, and display R-loop-forming potential.
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