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Discovery of a MET-driven monogenic cause of steatotic liver disease.
Hepatology
January 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.
View Article and Find Full Text PDFHow a Medical Student Found Himself in a Human Genome Free for All.
Annu Rev Genomics Hum Genet
January 2025
Department of Genome Sciences, School of Medicine, University of Washington, Seattle, Washington, USA;
In this short memoir, I recount the series of improbable interactions and events that led me from medical school to a leadership role in the Human Genome Project.
View Article and Find Full Text PDFChromosome length genome assembly of the stone marten (Martes foina, Mustelidae): a new view on one of the cornerstones in carnivore cytogenetics.
J Hered
January 2025
Center for Evolutionary Hologenomics, The Globe Institute, The University of Copenhagen, 5A, Oester Farimagsgade, Copenhagen, 1353, Denmark.
The stone marten (Martes foina) is an important species for cytogenetic studies in the order Carnivora. ZooFISH probes created from its chromosomes provided a strong and clean signal in chromosome painting experiments and were valuable for studying the evolution of carnivoran genome architecture. The research revealed that the stone marten chromosome set is similar to the presumed ancestral karyotype of the Carnivora, which added an additional value for the species.
View Article and Find Full Text PDFProtocol to boost the robustness and accuracy of spatial transcriptomics algorithms using ensemble techniques.
STAR Protoc
January 2025
Department of Statistics, University of Georgia, 310 Herty Drive, Athens, GA 30602, USA. Electronic address:
Spatial transcriptomics enhances our understanding of cellular organization by mapping gene expression data to precise tissue locations. Here, we present a protocol for using weighted ensemble method for spatial transcriptomics (WEST), which uses ensemble techniques to boost the robustness and accuracy of existing algorithms. We describe steps for preprocessing data, obtaining embeddings from individual algorithms, and ensemble integrating all embeddings as a similarity matrix.
View Article and Find Full Text PDFUndocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder linked to chronic respiratory issues, infertility, and problems with body asymmetry, primarily caused by mutations in the CCDC39 and CCDC40 genes.
- Researchers used advanced techniques to investigate how these genetic variants impact cellular functions beyond just causing cilia to stop moving.
- They discovered that the absence of CCDC39/CCDC40 creates a significant loss of over 90 ciliary structural proteins, leading to cilia dysfunction and other cellular issues, suggesting that gene therapy could potentially offer a new treatment strategy for PCD.
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