Cystinuria: A Genetic and Molecular View – What Is Known about Animal Models and Cells [PDF]
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
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Ca2+-mediated higher-order assembly of b0,+AT–rBAT is a key step for system b0,+biogenesis and cystinuria [PDF]
bioRxiv, 2021 Yongchan Lee +5 more
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8-l-Cystinyl Bis(1,8-diazaspiro[4.5]decane) as an Orally Bioavailable l-Cystine Crystallization Inhibitor for Cystinuria. [PDF]
ACS Med Chem LettCystinuria, a rare genetic disorder, is characterized by defective l-cystine reabsorption from the renal proximal tubule, resulting in abnormally high concentrations of l-cystine and subsequent l-cystine crystallization in urine and stone formation in ...
Hu L +8 more
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Cystine crystal nucleation and decay in the context of cystinuria pathogenesis and treatment. [PDF]
RSC AdvCystinuria is a rare disease which results in the precipitation of cystine in the renal filtrate, which may cause acute kidney injury due to mechanical trauma.
Noble K, Kavanagh ON.
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Healthcare, 2023 Cystinuria is the most common genetic cause of recurrent kidney stones. As the result of a genetic defect in proximal tubular reabsorption of filtered cystine, increased urine levels of the poorly soluble amino acid result in recurrent cystine ...
Sarah M. Azer, David S. Goldfarb
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Diagnostic Approach in Cystinuria: A Case Report
Trends in Pediatrics, 2021 Cystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2.
Selda Bülbül +2 more
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An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. [PDF]
PLoS ONE, 2014 Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria).
Marine Livrozet +10 more
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Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report
Frontiers in Pediatrics, 2022 Cystinuria is a recessively inherited genetic disease causing recurrent kidney stones with risk of kidney failure. The discovery of hyperechoic colonic content on an antenatal ultrasound is considered to be a pathognomic sign of cystinuria.
Antje Knapke +3 more
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Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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