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| http://dx.doi.org/10.1681/ASN.2020060820 | DOI Listing |
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Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Indian J Med Res
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu.
View Article and Find Full Text PDFSimultaneous pancreas-kidney (SPK) transplantation is a recognized treatment for patients with insulin-dependent diabetes and advanced chronic kidney disease or end-stage renal disease (ESRD), offering significant survival benefits. However, it is associated with a higher risk of venous thrombosis, which can jeopardize the survival of the pancreaticoduodenal graft. This case report describes a patient with type 2 diabetes, hypertension, and ESRD who developed acute, occlusive deep vein thrombosis (DVT) involving the right common femoral, profunda femoral, and greater saphenous veins on postoperative day 1 (POD1) following a deceased donor SPK transplant, despite systemic prophylactic anticoagulation.
View Article and Find Full Text PDFThe cysteine protease legumain decreases glucose metabolism and enhances fatty acid uptake in human myotubes.
Biochimie
December 2024
Section for Pharmacology and Pharmaceutical Biosciences, Department of Pharmacy, University of Oslo, Oslo, Norway.
Skeletal muscle has an important role in whole body energy metabolism and various proteases are involved in skeletal muscle functions. We have previously identified the cysteine protease legumain in cultured human skeletal muscle cells. However, the potential role of legumain in regulation of energy metabolism remains unexplored.
View Article and Find Full Text PDFThe Putative Antilipogenic Role of NRG4 and ERBB4: First Expression Study on Human Liver Samples.
Front Biosci (Landmark Ed)
December 2024
Center for Immunology and Cellular Biotechnology, Institute of Medicine and Life Sciences, Immanuel Kant Baltic Federal University, 236001 Kaliningrad, Russia.
Background: Epidermal growth factor receptor 4 (ERBB4) and neuregulin 4 (NRG4) have been shown to reduce steatosis and prevent the development of non-alcoholic steatohepatitis in mouse models, but little to nothing is known about their role in non-alcoholic fatty liver disease (NAFLD) in humans. This study is the first to investigate the expression of and mRNAs and their role in lipid metabolism in the livers of individuals with obesity, type 2 diabetes and biopsy-proven NAFLD.
Methods: Liver biospecimens were obtained intraoperatively from 80 individuals.
Canid alphaherpesvirus 1 infection alters the gene expression and secretome profile of canine adipose-derived mesenchymal stem cells in vitro.
Virol J
December 2024
Virology Department, Croatian Veterinary Institute, Zagreb, Croatia.
Background: Canine adipose-derived mesenchymal stem cells (cAD-MSCs) demonstrate promising tissue repair and regeneration capabilities. However, the procurement and preservation of these cells or their secreted factors for therapeutic applications pose a risk of viral contamination, and the consequences for cAD-MSCs remain unexplored. Consequently, this research sought to assess the impact of canid alphaherpesvirus 1 (CHV) on the functional attributes of cAD-MSCs, including gene expression profiles and secretome composition.
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