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Characterization of FAM114A1: A Novel Podocyte Cytoskeleton-Associated Protein Upregulated in Glomerular Injury.
Am J Physiol Renal Physiol
January 2025
Department of Medicine, Boston Medical Center and Department of Medicine, Boston University. Chobanian & Avedisian School of Medicine.
Transcriptomic analysis of microdissected human glomeruli has suggested novel molecular signatures associated with MN by revealing several genes differentially upregulated in MN compared to other glomerular diseases. We focused on a novel protein, Family with sequence similarity 114 member A1 (FAM114A1) that was identified as the top classifier gene in the dataset. To determine the localization of FAM114A1 within glomeruli, we performed immunofluorescence (IF) staining on normal human kidney specimens.
View Article and Find Full Text PDFMinimal change disease in treatment-naïve hepatitis C virus infection: A case report and literature review.
Clin Nephrol Case Stud
January 2025
Department of Medicine.
Minimal change disease (MCD) accounts for 10 - 15% of idiopathic nephrotic syndromes in adults. Chronic hepatitis C virus (HCV) infection is rarely ascribed as a cause of MCD and was previously associated with interferon-based therapy. MCD in treatment-naïve chronic HCV infection is extremely rare, with only 3 cases reported in the literature.
View Article and Find Full Text PDFFibrillary Glomerulonephritis in a Patient With Sjögren's Syndrome and Primary Biliary Cholangitis: A Case Report and Literature Review.
Cureus
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Nephrology Department, Unidade Local de Saúde (ULS) Algarve - Hospital de Faro, Faro, PRT.
Fibrillary glomerulonephritis (FGN) is a rare glomerular disease characterized by the deposition of fibrils within the mesangium and glomerular basement membrane. Most cases are idiopathic, but it can be linked to autoimmune diseases, neoplasms, and infections. There is limited evidence on the best treatment approach, and many patients progress to end-stage kidney disease.
View Article and Find Full Text PDFTargeting the Type I Interferon Pathway in Glomerular Kidney Disease: Rationale and Therapeutic Opportunities.
Kidney Int Rep
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Translational Science and Experimental Medicine, Early R&I, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Type I interferons (IFNs) are immunostimulatory molecules that can activate the innate and adaptive immune systems. In cases of immune dysfunction, prolonged activation of the type I IFN pathway has been correlated with kidney tissue damage in a wide range of kidney disorders, such as lupus nephritis (LN) and focal segmental glomerulosclerosis (FSGS). Genetic mutations, such as risk variants in conjunction with elevated type I IFN expression, are also associated with higher rates of chronic kidney disease in patients with LN and collapsing FSGS.
View Article and Find Full Text PDFRadiofrequency ablation in tumour-induced osteomalacia: a therapeutic challenge.
BMJ Case Rep
January 2025
Internal Medicine, MS Ramaiah Medical College, Bengaluru, Karnataka, India.
Tumour-induced osteomalacia (TIO) is an uncommon, debilitating disorder often characterised by non-specific clinical manifestations, posing a significant diagnostic challenge. The tumours causing TIO can be minuscule and occur in unusual areas, further complicating diagnosis. This report details the case of a woman in her early 30s presenting with chronic pain who subsequently developed fragility fractures.
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