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Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder caused by faulty thyroid hormone transport to the brain, leading to severe movement problems and intellectual disability. Our study in a murine model of the AHDS used snRNAseq to gain deep insights into individual cortical cells, aiming to unra...
ORGANISM(S): Mus musculus 
Background: Leptin is a master regulator of energy homeostasis, acting through its long‑form receptor LepRb to modulate neuronal activity, transcriptional programs, and metabolic pathways that control feeding and body‑weight regulation. While classical work established JAK2–STAT3 signaling as a cent...
ORGANISM(S): Mus musculus 
Non-coding regulatory variants are gaining a lot of attention in recent years. This study identifies a 5’UTR variant of the Endothelin-1 gene (EDN1) linked to elevated production of Endothelin-1. The potent vasoactive Endothelin-1 (ET-1) peptide is implicated in vascular homeostasis. Its dysregulate...
ORGANISM(S): Homo sapiens (Human) 
2026-06-01 | PXD076288 | Pride
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