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Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Hum Mol Genet
January 2025
Department of Human Genetics, McGill University, 3666 McTavish Street, Montreal, QC H3A 1Y2, Canada.
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.
View Article and Find Full Text PDFHarnessing the synergy of Urochloa brizantha and Amazonian Dark Earth microbiomes for enhanced pasture recovery.
BMC Microbiol
January 2025
Center for Nuclear Energy in Agriculture, University of São Paulo, Piracicaba, SP, Brazil.
Amazonian Dark Earths (ADEs) are fertile soils from the Amazon rainforest that harbor microorganisms with biotechnological potential. This study aimed to investigate the individual and potential synergistic effects of a 2% portion of ADEs and Urochloa brizantha cv. Marandu roots (Brazil's most common grass species used for pastures) on soil prokaryotic communities and overall soil attributes in degraded soil.
View Article and Find Full Text PDFEnd-to-End CT Radiomics-Based Pipeline for Predicting Renal Interstitial Fibrosis Grade in CKD Patients.
Acad Radiol
January 2025
Department of Radiology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou 310007, Zhejiang Province, China (Y.R., W.L., Y.Z., S.K., F.C.). Electronic address:
Rationale And Objectives: Non-invasive assessment of renal fibrosis in patients with chronic kidney disease (CKD) remains a clinical challenge. This study aims to integrate radiomics and clinical factors to develop an end-to-end pipeline for predicting interstitial fibrosis (IF) in CKD patients.
Materials And Methods: This retrospective study included 80 patients with CKD, with 53 patients in training set and 27 patients in test set.
Quantitative pre-clinical imaging of hypoxia and vascularity using MRI and PET.
Methods Cell Biol
January 2025
Translational Radiomics, Luxembourg Institute of Health, Luxembourg City, Luxembourg; In-Vivo Imaging Platform, Luxembourg Institute of Health, Luxembourg City, Luxembourg.
During hypoxia, tissues are subjected to an inadequate oxygen supply, disrupting the balance needed to maintain normal function. This deficiency can occur due to reduced oxygen delivery caused by impaired blood flow or a decline in the blood's ability to carry oxygen. In tumors, hypoxia and vascularization play crucial roles, shaping their microenvironments and influencing cancer progression, response to treatment and metastatic potential.
View Article and Find Full Text PDFDEC1 deficiency promotes osteoclastic activity by augmenting NFATc1 signaling via transactivation and the Ca/calcineurin pathway.
Biochem Pharmacol
January 2025
Department of Pharmacology, Nanjing Medical University, Nanjing 211166, PR China. Electronic address:
We have previously demonstrated that DEC1 promotes osteoblast differentiation. This study aims to evaluate the impact of DEC1 knockout on osteopenic activities, such as osteoclast differentiation and the expression of bone-degrading genes. To gain mechanistic insights, we employed both in vivo and in vitro experiments, utilizing cellular and molecular approaches, including osteoclast differentiation assays and RNA-seq in combination with ChIP-seq.
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