Results 31 to 40 of about 2,812 (171)
Frontiers in Pediatrics, 2021 Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit +15 more
doaj +1 more source
Cystinuria: A Genetic and Molecular View – What Is Known about Animal Models and Cells
Kidney & Blood Pressure ResearchBackground: Cystinuria is a rare genetic tubulopathy caused by mutations on SLC7A9 and SLC3A1 genes encoding for the apical membrane rBAT/b0,+AT transporter.
Iris Iuliano +7 more
doaj +1 more source
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
Journal of Research in Medical Sciences, 2017 Background: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1.
Samaneh Markazi +3 more
doaj +1 more source
Quantitative Susceptibility Mapping of Kidney Stones: An Ex Vivo MRI Phantom Study
Magnetic Resonance in Medicine, Volume 96, Issue 4, Page 1846-1859, October 2026.ABSTRACT Purpose To visualize and characterize the five most common kidney stone types based on their magnetic susceptibilities in MRI using QSM. Methods Three water‐based agar phantoms were constructed, containing a total of 53 ex vivo kidney stones of varying types and sizes.
Lion H. Mücke +8 more
wiley +1 more source
Clinical profile of a Polish cohort of children and young adults with cystinuria
Renal Failure, 2021 Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk +16 more
doaj +1 more source
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Iranian Journal of Public Health, 2021 Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi +4 more
doaj +1 more source
Amino acid homeostasis in the kidney: Physiological roles and pathological dysregulation
Physiological Reports, Volume 14, Issue 15, August 2026.Abstract Amino acids are fundamental to life as protein building blocks and key regulators of metabolism and signaling. The kidney plays a critical, yet underappreciated, role in amino acid homeostasis through three interconnected pillars: selective glomerular filtration, efficient tubular reabsorption, and metabolic processing, which includes de novo ...
Shuo Liu +3 more
wiley +1 more source
Kidney Stone, Nutritional Perceptions and Impact of Tea on Stone Formation
Phytochemicals in Food and Medicine, Volume 1, Issue 2, June 2026.ABSTRACT The significant financial burden that urinary stone disease places on healthcare systems is only anticipated to increase over time. It is becoming more common over the globe. It is an increasing urinary condition that impacts around 12% of the global population, and environmental variables appear to be a key contributor.
Munir Ahmed +5 more
wiley +1 more source
Redox Biology, 2023 The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease.
Clara Mayayo-Vallverdú +15 more
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source