Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. A highly conserved gene is present in humans and other vertebrates. These results identify ANK-mediated control of pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.
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http://dx.doi.org/10.1126/science.289.5477.265 | DOI Listing |
Elife
January 2025
The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p110α function, while heterozygous activating mutations cause immunodeficiency, attributed to p110δ activation and known as APDS2. Surprisingly, APDS2 patients do not show features of p110α hyperactivation, but do commonly have SHORT syndrome-like features, suggesting p110α hypofunction.
View Article and Find Full Text PDFCirc Res
January 2025
Division of Cardiology, Department of Medicine, Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, PA. (R.A.C., C.C.C., R.W., A.C., C.B., C.R., W.J.M., M.J. Bashline, A.P., A.M.P., P.B., M.J. Brown, C.S.H.).
Background: Calcific aortic valve disease is the pathological remodeling of valve leaflets. The initial steps in valve leaflet osteogenic reprogramming are not fully understood. As TERT (telomerase reverse transcriptase) overexpression primes mesenchymal stem cells to differentiate into osteoblasts, we investigated whether TERT contributes to the osteogenic reprogramming of valve interstitial cells.
View Article and Find Full Text PDFCureus
December 2024
Department of Oral Medicine, Nihon University School of Dentistry, Tokyo, JPN.
Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome, a systemic sclerosis subtype, features skin thickening, vascular issues, and organ involvement, causing complications in the gastrointestinal and musculoskeletal systems. Herein, we present a rare case of oral candidiasis, with CREST syndrome. The patient presented with xerostomia, tongue erythema, and burning pain.
View Article and Find Full Text PDFJ Shoulder Elbow Surg
January 2025
Department of Sports Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Division of Sports Medicine, Department of Orthopaedic Surgery, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Department of Orthopaedics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Orthopaedic Surgery, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung, Taiwan. Electronic address:
Background: The efficacy of extracorporeal shockwave therapy (ESWT) for treating shoulder calcific tendinitis can be influenced by various prognostic factors. This study aimed to identify prognostic factors associated with the failure of ESWT for symptom relief and to evaluate the predictive capability of the eXtreme Gradient Boosting (XGBoost) algorithm of artificial intelligence techniques in this context.
Methods: This retrospective study enrolled patients with persistent shoulder pain attributed to calcific tendinitis who underwent ESWT after failed conservative treatment between January 1998 and December 2022.
ACS Appl Bio Mater
January 2025
Collaborative Innovation Center of Tumor Marker Detection Technology, Equipment and Diagnosis Therapy Integration in Universities of Shandong, Shandong Province Key Laboratory of Detection Technology for Tumor Makers, College of Medicine, Linyi University, Linyi 276005, China.
The multiple enzymatic properties of the Au-modified metal-organic framework (Au-MOFs) have made it a functional catalytic system for antitumor treatment. However, in the face of insufficient catalytic substrates in tumor tissue, it is still impossible to achieve efficient treatment of tumors. Herein, Au-MOFs loaded with hyaluronic acid (HA)-modified calcium peroxide nanoparticles (CaO NPs) were used to construct a nanozyme (Au-MOF/CaO/HA) for substrate self-supplied and parallel catalytic/calcium-overload-mediated therapy of cancer.
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