Publications by authors named "I Chinn"
Cytotoxic immune cells mediate precise attacks against diseased cells to maintain organismal health. Their operational unit of killing and host defense is lytic granules (LGs), which are specialized lysosomal-related organelles. Precision in cytotoxicity is achieved by converging the many LGs to the microtubule-organizing center (MTOC) and polarizing these to the diseased cell for secretion.
View Article and Find Full Text PDFBCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
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- Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
- This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
- The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
Understanding biomolecular interactions is fundamental to advancing fields like drug discovery and protein design. In this paper, we introduce Boltz-1, an open-source deep learning model incorporating innovations in model architecture, speed optimization, and data processing achieving AlphaFold3-level accuracy in predicting the 3D structures of biomolecular complexes. Boltz-1 demonstrates a performance on-par with state-of-the-art commercial models on a range of diverse benchmarks, setting a new benchmark for commercially accessible tools in structural biology.
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- Inversions are structural variants that play a role in genetic diseases, but they are tough to detect and analyze, despite improvements in sequencing technologies and the availability of public datasets.
- The study focuses on a case of familial hemophagocytic lymphohistiocytosis type-3, revealing a specific inversion that is extremely rare.
- A comparison of multiple datasets highlights common and unique features of inversions, with findings suggesting that these rare variants may contribute to autosomal recessive diseases, implying their significance in understanding and diagnosing rare genetic disorders.