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Title: Identification of a novel GRHPR mutation in primary hyperoxaluria type 2 and establishment of patient-derived iPSC line.
Hum Cell
January 2025
Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China.
This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.
View Article and Find Full Text PDFOxalate nephropathy after kidney transplantation: A common cause of graft dysfunction, but uncommon cause of ureter stricture.
Am J Transplant
January 2025
Division of Transplantation, Department of Surgery, University of Wisconsin, Madison, Wisconsin, USA.
Dietary Supplement Safety in Older Adults: A Review of Published Case Reports.
Sr Care Pharm
January 2025
Department of Pharmaceutical Sciences, University of California, Irvine, Irvine, California.
This review summarizes recent case reports where the consumption of dietary supplements by older adults may have caused an adverse event. In December 2023, PubMed was surveyed for case reports published from 2000 onwards, using two medical subject heading (MeSH) terms, "aged" and "dietary supplements," where the latter was combined with the MeSH subheadings "adverse effects," "poisoning," or "toxicity." Major clinical trials for dietary supplements were identified at
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.
Nephrology (Carlton)
January 2025
Center for Genetics and Inherited Diseases, Taibah University Medina, Madinah, Kingdom of Saudi Arabia.
Aim: Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene.
View Article and Find Full Text PDFIGF1R Enhances Calcium Oxalate Monohydrate-Induced Epithelial-Mesenchymal Transition by Reprogramming Metabolism via the JAK2/STAT3 Signaling.
Int J Biol Sci
January 2025
Department of Urology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Kidney stone disease is a major risk factor for impaired renal function, leading to renal fibrosis and end-stage renal disease. High global prevalence and recurrence rate pose a significant threat to human health and healthcare resources. Investigating the mechanisms of kidney stone-induced injury is crucial.
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