Results 71 to 80 of about 1,950 (208)
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]
, 2019 Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne +16 more
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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population [PDF]
, 2018 Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
Carmo Macário, Maria do +16 more
core +1 more source
Improving Patient Understanding of Glomerular Disease Terms With ChatGPT
International Journal of Clinical Practice, Volume 2025, Issue 1, 2025.Background: Glomerular disease is complex and difficult for patients to understand, as it involves various pathophysiology, immunology, and pharmacology areas. Objective: This study explored whether ChatGPT can maintain accuracy while simplifying glomerular disease terms to enhance patient comprehension.
Yasir H. Abdelgadir +5 more
wiley +1 more source
The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)
International Journal of Nephrology, Volume 2025, Issue 1, 2025.Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi +5 more
wiley +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Human Pathology Reports, 2022 We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen +8 more
doaj +1 more source
Abnormal mitochondrial autophagy in nephropathic cystinosis [PDF]
Autophagy, 2010 Cystinosis, which is characterized by lysosomal accumulation of cystine in many tissues, was the first known storage disorder caused by defective metabolite export from the lysosome. The molecular and cellular mechanisms underlying nephropathic cystinosis, the most severe form, which exhibits generalized proximal tubular dysfunction and progressive ...
Poonam, Sansanwal, Minnie M, Sarwal
openaire +2 more sources
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]
, 2017 Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne +5 more
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Principles of Cystinosis Transition in Children [PDF]
, 2020 Children with chronic illness need special care during the transition to adolescence and adulthood. Cystinosis is a chronic childhood disease characterized by chronic renal failure and multi-organ involvement.
Arad, Banafshe, Saffari, Fatemeh
core +2 more sources
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]
, 2018 We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr +6 more
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