A5035787969- RNA Research and Splicing
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Extracellular vesicles in disease
- Mosquito-borne diseases and control
- Zebrafish Biomedical Research Applications
- interferon and immune responses
- MicroRNA in disease regulation
- Liver Disease and Transplantation
- Metabolomics and Mass Spectrometry Studies
- Genomics and Chromatin Dynamics
- Liver Disease Diagnosis and Treatment
- Signaling Pathways in Disease
Cleveland Clinic Lerner College of Medicine
2021-2024
Cleveland Clinic
2020-2024
Case Western Reserve University
2020-2021
Vertebrates have evolved three paralogs, termed LUC7L, LUC7L2, and LUC7L3, of the essential yeast U1 small nuclear RNA (snRNA)-associated splicing factor Luc7p. We investigated mechanistic regulatory functions these putative factors, which one (LUC7L2) is mutated or deleted in myeloid neoplasms. Protein interaction data show that all proteins bind similar core but distinct probably mediated through their divergent arginine-serine-rich domains, are not present Knockdown each reveals mostly...
Chronic liver diseases, including non-alcoholic fatty disease (NAFLD), cirrhosis, and hepatocellular carcinoma (HCC), continue to be a global health burden with rise in incidence mortality, necessitating need for the discovery of novel biomarkers HCC detection. This study aimed identify non-invasive these different states. We performed untargeted metabolomics plasma (Healthy = 9, NAFLD 14, Cirrhosis 10, 34) saliva samples 22) test significant metabolite associations each state. Additionally,...
RNA splicing dysfunctions are more widespread than what is believed by only estimating the effects resulting factor mutations (SFMT) in myeloid neoplasia (MN). The genetic complexity of MN amenable to machine learning (ML) strategies. We applied an integrative ML approach identify co-varying features combining genomic lesions (mutations, deletions, and copy number), exon-inclusion ratio as measure (percent spliced in, PSI), gene expression (GE) 1,258 63 normal controls. identified 15...
Abstract Mutations in the single-copy RNU4ATAC gene, which encodes U4atac snRNA of minor spliceosome are linked to developmental disorder microcephalic osteodysplastic primordial dwarfism type I (MOPD I). Partial loss-of-function mutations lead a poor prognosis, with less than three year survival. The most prominent characteristic MOPD is disrupted central nervous system development resulting severe microcephaly and lissencephaly. In this study, we used self-organizing 3D cerebral organoids...