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ProteomicsProteomic analysis of urinary exosomes in cystinuria patients
Cystinuria is a rare renal genetic disease caused by mutations in cystine transporter genes and characterized by defective cystine reabsorption leading to kidney stones. In 14% of cases patients undergo nephrectomy, but given the difficulty to predict the evolution of the disease, the identification...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-03-01 | MSV000079546 | MassIVE
ProteomicsProteomic analysis of urinary exosomes in cystinuria patients
Cystinuria is a rare renal genetic disease caused by mutations in cystine transporter genes and characterized by defective cystine reabsorption leading to kidney stones. In 14% of cases patients undergo nephrectomy, but given the difficulty to predict the evolution of the disease, the identification...
ORGANISM(S): Homo sapiens (Human) 
2014-11-17 | PXD001430 | Pride
Exosome Cystinuria Orbitrap Urine proteomics 
TranscriptomicsDifferences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats
Cystinuria is a genetic disorder of cystine transport that accounts for 1–2% of all cases of renal lithiasis. It is characterized by hyperexcretion of cystine in urine and recurrent cystine lithiasis. Defective transport of cystine into epithelial cells of renal tubules occurs because of mutations o...
ORGANISM(S): Rattus norvegicus 
2021-06-26 | GSE178871 | GEO
GenomicsDifferences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats
Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats
PRJNA741265 | ENA
GenomicsEfect of L-Ergothioneine treatment in kidneys of Slc7-/- cystinuria mouse model
Efect of L-Ergothioneine treatment in kidneys of Slc7-/- cystinuria mouse model
PRJNA1369584 | ENA
UnknownDigenic Inheritance in Cystinuria Mouse Model.
Not available
S-EPMC4567282 | biostudies-literature
ProteomicsUrine proteomic analysis of cystinuric patients
Cystinuria is the most frequent monogenic cause of renal calculi. We previously described a urinary inflammatory signature in 8 cystinuric patients through quantitative proteomic analysis. Our data suggested an association of abnormal renal function and an inflammatory protein profile. The objective...
ORGANISM(S): Homo sapiens (Human) 
2024-03-29 | PXD035631 | Pride
Cystinuria Chronic kidney disease Inflammation Urine proteomic 
Genomics
Cystinuria Mouse Gut Microbiome
PRJNA1131664 | ENA
UnknownCystinuria: an inborn cause of urolithiasis.
Not available
S-EPMC3464901 | biostudies-literature
TranscriptomicsEfect of L-Ergothioneine treatment in kidneys of Slc7-/- cystinuria mouse model
Cystinuria (OMIM #220100) is the most common inherited aminoaciduria and it is caused by mutations in the SLC3A1 and SLC7A9 genes, which encode the heavy and light subunits of the b0,+ amino acid transport system. Defects in renal reabsorption lead to the hyperexcretion of cystine, lysine, arginine ...
ORGANISM(S): Mus musculus 
2026-02-01 | GSE311516 | GEO
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