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Inbreeding and Outbreeding Depression in Wild and Captive Insect Populations.
Annu Rev Entomol
January 2025
Laboratory of Genetics, Wageningen University & Research, Wageningen, The Netherlands.
Major changes in genetic variation are generally considered deleterious to populations. The massive biodiversity of insects distinguishes them from other animal groups. Insect deviant effective population sizes, alternative modes of reproduction, advantageous inbreeding, endosymbionts, and other factors translate to highly specific inbreeding and outbreeding outcomes.
View Article and Find Full Text PDFSegment specific loss of NFAT5 function in the kidneys is sufficient to induce a global kidney injury like phenotype.
FASEB J
January 2025
Department of Medicine, Hematology and Oncology, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Nuclear factor of activated T-cells 5 (NFAT5) is a transcription factor known for its role in osmotic stress adaptation in the renal inner medulla, due to the osmotic gradient that is generated between the renal cortex and renal inner medulla. However, its broader implications in kidney injury and chronic kidney disease (CKD) are less understood. Here we used two different Cre deleter mice (Ksp1.
View Article and Find Full Text PDFMulti-disciplinary research will be the key to stop, restore, and end MS.
Mult Scler
January 2025
Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
The past 25 years have brought extraordinary advances in our understanding of MS pathogenesis and the subsequent development of effective therapies. Collaborative genetics efforts have uncovered the association of 236 common DNA variants with disease susceptibility and the first association with disease severity, paving the way to more effective therapies, particularly for progressive forms of the disease. In parallel, and in addition to established environmental disease triggers or modifiers, new collaborative work has revealed new associations with components of the gut microbiome.
View Article and Find Full Text PDFA genome-wide atlas of human cell morphology.
Nat Methods
January 2025
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
A key challenge of the modern genomics era is developing empirical data-driven representations of gene function. Here we present the first unbiased morphology-based genome-wide perturbation atlas in human cells, containing three genome-wide genotype-phenotype maps comprising CRISPR-Cas9-based knockouts of >20,000 genes in >30 million cells. Our optical pooled cell profiling platform (PERISCOPE) combines a destainable high-dimensional phenotyping panel (based on Cell Painting) with optical sequencing of molecular barcodes and a scalable open-source analysis pipeline to facilitate massively parallel screening of pooled perturbation libraries.
View Article and Find Full Text PDFSurgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
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