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A retrospective single-center pilot study of the genetic background of the transplanted kidney.
PLoS One
January 2025
Department of Nephrology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Introduction: Renal cell carcinoma (RCC) is one of the most prevalent cancers in kidney transplant recipients (KTR). The hereditary background of RCC in native kidneys has been determined, implicating its clinical importance.
Materials And Methods: This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney.
Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFAntemortem and Postmortem Diagnosis of in a Pet Rabbit ()-A Case Report.
Pathogens
December 2024
Department of Genetics and Hereditary Diseases, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 400372 Cluj-Napoca, Romania.
cuniculi infection in rabbits represents a true challenge in both diagnosis and treatment of the disease. This study aims to describe and analyze all methods of identifying the presence of the microsporidian in a rabbit through antemortem and postmortem methods. The patient manifested clinical signs of vestibular disease and mild renal symptoms with no significant improvement under treatment, which finally led to euthanasia.
View Article and Find Full Text PDFBackground: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFProtein handling in kidney tubules.
Nat Rev Nephrol
January 2025
Institute of Anatomy, University of Zurich, Zurich, Switzerland.
The kidney proximal tubule reabsorbs and degrades filtered plasma proteins to reclaim valuable nutrients and maintain body homeostasis. Defects in this process result in proteinuria, one of the most frequently used biomarkers of kidney disease. Filtered proteins enter proximal tubules via receptor-mediated endocytosis and are processed within a highly developed apical endo-lysosomal system (ELS).
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