Publications by authors named "G Loeb"
Article Synopsis
- Early detection of cell type changes in genitourinary tract diseases is a clinical challenge, as current assays often lack the detailed cellular insight that invasive biopsies provide.
- Researchers studied cell-free RNA (cfRNA) from urine samples of healthy individuals and kidney stone patients, aiming to improve understanding of cell type contributions and the urine metabolome.
- The analysis revealed that urine transcriptome can discern contributions from various cell types and highlighted specific metabolic pathways linked to kidney function, indicating noninvasive urine analysis could serve as a useful tool in diagnosing related diseases.
The Utility of Calibrating Wearable Sensors before Quantifying Infant Leg Movements.
Sensors (Basel)
September 2024
While interest in using wearable sensors to measure infant leg movement is increasing, attention should be paid to the characteristics of the sensors. Specifically, offset error in the measurement of gravitational acceleration () is common among commercially available sensors. In this brief report, we demonstrate how we measured the offset and other errors in three different off-the-shelf wearable sensors available to professionals and how they affected a threshold-based movement detection algorithm for the quantification of infant leg movement.
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- - Kidney failure significantly impacts health, prompting a large-scale study of 406,504 participants to uncover genetic factors affecting kidney function, identifying 430 key genetic loci.
- - The research revealed that 56% of inherited differences in kidney function are linked to regulatory elements in kidney tubule epithelial cells, while 7% relate to podocyte cells, suggesting these are crucial for gene expression.
- - Further analysis using advanced techniques like enhancer assays and CRISPRi identified specific genes (NDRG1, CCNB1, and STC1) regulated by these genetic loci, shedding light on their roles in kidney function.
Article Synopsis
- Deep learning models are used to predict epigenetic features, but their performance varies, especially in cell type-specific regions crucial for gene regulation.
- The study compares general-purpose models and tissue-specific models, finding that tailored models can enhance accuracy in predicting chromatin accessibility in specific cells.
- It emphasizes the need for novel strategies to improve predictions on genetic variants, as high reference sequence accuracy does not guarantee better variant effect predictions.
Polycystin-1 (PC-1) and PC-2 form a heteromeric ion channel complex that is abundantly expressed in primary cilia of renal epithelial cells. This complex functions as a non-selective cation channel, and mutations within the polycystin complex cause autosomal dominant polycystic kidney disease (ADPKD). The spatial and temporal regulation of the polycystin complex within the ciliary membrane remains poorly understood.
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