Publications by authors named "T K Cain"
Purpose: To assess the differences in variant classifications using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology 2015 guidelines and the Bayesian point-based classification system (here referred to as the point system) in 115 hereditary cancer predisposition genes and explore variant sub-tiering by the point system.
Methods: Germline variant classifications for 721 pediatric patients from an in-house panel were retrospectively evaluated using the 2 scoring systems.
Results: A total of 2376 unique variants were identified, with ∼23.
The role of the haematopoietic stem cell niche in development and ageing.
Nat Rev Mol Cell Biol
January 2025
Blood production depends on rare haematopoietic stem cells (HSCs) and haematopoietic stem and progenitor cells (HSPCs) that ultimately take up residence in the bone marrow during development. HSPCs and HSCs are subject to extrinsic regulation by the bone marrow microenvironment, or niche. Studying the interactions between HSCs and their niche is critical for improving ex vivo culturing conditions and genetic manipulation of HSCs, which is pivotal for improving autologous HSC therapies and transplantations.
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- * Research using single-cell RNA sequencing revealed that patients experiencing prolonged cytopenia had an increase in specific cytotoxic T cells that produce high levels of interferon (IFN)-γ, which is linked to this condition.
- * The findings suggest that IFN-γ negatively impacts the function of hematopoietic stem cells (which produce blood cells), and potential treatments could involve targeting IFN-γ with either thrombopoietin agonists or neutralizing antibodies.