Results 161 to 170 of about 2,192 (190)

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria

Urolithiasis, 2015
Cystinuria is an autosomal inherited disorder of renal reabsorption of cystine, arginine, lysine, and ornithine. Increased urinary excretion of cystine results in the formation of kidney stones. Considering the few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1 and ...
Leila, Koulivand, Mehrdad, Mohammadi, Behrouz, Ezatpour, Rasoul, Salehi, Samane, Markazi, Sepideh, Dashti, Majid, Kheirollahi   +6 more
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[From gene to disease; SLC3A1, SLC7A9 and cystinuria].

Nederlands tijdschrift voor geneeskunde, 2003
In total, 1-2% of adults and 6-8% of children suffering from kidney stones have cystinuria, a defect in the transport of amino acids, which leads to high concentrations of cystine in the urine. Two genes have been implicated, solute carrier family 3 (cystine, basic and) neutral amino acid transporter, member 1 (SLC3A1) coding for the protein related to
M H, Breuning, N A T C, Hamdy
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Mutations in the Genomic Deoxyribonucleic Acid for SLC3A1 in Patients with Cystinuria

Journal of Clinical Endocrinology & Metabolism, 1998
Cystinuria is an inherited transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. We have studied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystinurics. We found mutations in 34 of the 66 chromosomes studied. There were
W L, Gitomer, B Y, Reed, L A, Ruml, K, Sakhaee, C Y, Pak   +4 more
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In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria

Molecular Biology Reports, 2018
Cystinuria is an autosomal recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from renal tubule and small intestine. Mutations in two genes: SLC3A1, encoding the heavy chain rbAT of the renal cystine transport system and SLC7A9, the gene of its light chain b0, + AT have a crucial role in ...
Manijeh Mahdavi, Leila Koulivand, Mehdi Khorrami, Maryam Mirsafaie, Majid Kheirollahi   +4 more
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Genomic and Functional Investigations of Mutations of the SLC3A1 Gene in Cystinuria

Urologia Internationalis, 2002
<i>Background:</i> Cystinuria is the second most frequent autosomal recessively inherited disorder in Europe, and it is based on a disturbance of the transepithelial transport of cystine and amino acids in the proximal renal tubule as well as in the intestinum.
Sven, Lahme, Karl-Horst, Bichler, Thomas, Eggermann, Florian, Lang   +3 more
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SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria

Mammalian Genome, 2006
Cystinuria is a genetic disorder in the domestic dog that leads to recurrent urolith formation. The genetic basis of the disorder is best characterized in humans and is caused by mutations in one of the amino acid transporter genes SLC3A1 or SLC7A9, which results in hyperexcretion of cystine and the dibasic amino acids in the urine and subsequent ...
Lotta, Harnevik, Astrid, Hoppe, Peter, Söderkvist   +2 more
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Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation

Genetic Testing, 1999
Cystinuria is a frequent autosomal recessive transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. Biochemically, three types of cystinuria can be defined. Here we present our results of screening for mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter protein and appears to ...
ALBERS A, LAHME S, WAGNER C, KAISE P, ZERRES K, CAPASSO, Giovambattista, PICA A, PALACIN M, LANG F, BICHLER K, EGGERMANN T.   +10 more
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Mutations in the SLC3A1 transporter gene in cystinuria.

American journal of human genetics, 1995
Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified
E, Pras, N, Raben, E, Golomb, N, Arber, I, Aksentijevich, J M, Schapiro, D, Harel, G, Katz, U, Liberman, M, Pras   +9 more
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A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Iranian journal of kidney diseases, 2016
Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters,  and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, and arginine. Cystinuria is classified as type I (silent heterozygotes)
Samaneh, Markazi, Majid, Kheirollahi, Abbas, Doosti, Mehrdad, Mohammadi, Leila, Koulivand   +4 more
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Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

Human mutation, 2002
Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1.
L, Harnevik, E, Fjellstedt, A, Molbaek, H G, Tiselius, T, Denneberg, P, Söderkvist   +5 more
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