Mutationsspektrum in den Genen SLC3A1 und SLC7A9 bei jugendlichen Cystinuriepatienten [PDF]
, 2003 Cystinuria is a hereditary kidney stone disease which is caused by a renal tubular defect of reabsorption of cystine and the dibasic amino acids lysine, arginine and ornithine.
Botzenhart, Elke Maria
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Genomic Structure and Organization of the HumanrBATGene (SLC3A1)
Genomics, 1996 Cystinuria is an autosomal recessive disorder of amino acid transport, manifesting as three phenotypes (I, II, and III). An amino acid transport gene, rBAT, is responsible for cystinuria. Mutation and linkage analyses have demonstrated the disease to be heterogeneous, with rBAT being the defective gene in type I cystinuria. The genomic structure of the
J. PURROY +9 more
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Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers [PDF]
Journal of the American Society of Nephrology, 2002 Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for ...
DELLO STROLOGO L +17 more
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Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria [PDF]
, 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis.
Phillips, John A. +5 more
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Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
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Table_1_Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.docx [PDF]
, 2020 BackgroundCystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU).
Yu Zheng (2950) +7 more
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BMC Nephrology, 2018 Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative.
Kathrin Olschok +4 more
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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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Urinary cystine calculi and detection of polymorphism in the SLC3A1 gene in Sudanese children [PDF]
, 2014 ObjectivesTo investigate polymorphism in exon 8 of the SLC3A1 gene in children with urinary cystine calculi in Khartoum.MethodsA semi-quantitative chemical method was used to analyse 175 urinary calculi removed surgically from paediatric patients at Soba
Elfadil, Ghada A. +3 more
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Cysteine promotion of breast cancer tumorigenesis is dependent of the solute carrier SLC3A1
Genes and Diseases, 2017 Yuan Cao
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