Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria [PDF]
Kidney International, 2003 Cystinuria is an inherited disorder of defective renal reabsorption of cystine and the dibasic amino acids. Recently, SLC3A1 and SLC7A9 have been identified as responsible genes. While point mutations in the two genes are well known to cause cystinuria, only a few studies are aimed on the identification of gross genomic alterations. Here, we report our
Thomas Eggermann +2 more
exaly +5 more sources
Cystinuria type I: Identification of eight new mutations in SLC3A1 [PDF]
Kidney International, 2001 Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in ...
Luigi Bisceglia +2 more
exaly +6 more sources
Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation [PDF]
Genes, 2022 Cystinuria is a genetically inherited disorder of renal and intestinal transport, featured as a high concentration of cystine in the urine. Cumulative cystine in urine would cause the formation of kidney stones, which further leads to renal colic and dysfunction.
, Li Hu, Lexin Liu
exaly +4 more sources
Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria [PDF]
Kidney International, 2000 Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.Cystinuria is an inheritable amino aciduria and has been classified into three subtypes: I, II, and III. One of the genes responsible for cystinuria has recently been identified as SLC3A1 or rBAT, but only type I cystinuria seems to be caused by genetic alterations in rBAT.
Koichiro Akakura
exaly +5 more sources
Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report [PDF]
BMC Urology, 2023 Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai +11 more
doaj +4 more sources
A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype [PDF]
Société Internationale d’Urologie Journal, 2023 ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA ...
Lisa-Ann Kaestner +4 more
doaj +2 more sources
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study [PDF]
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 +2 more sources
Digenic Inheritance in Cystinuria Mouse Model. [PDF]
PLoS ONE, 2015 Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Meritxell Espino +7 more
doaj +5 more sources
Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes [PDF]
Kidney International, 2002 Cystinuria is a common inherited disorder of defective renal reabsorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in ...
Botzenhart, Elke +15 more
openaire +5 more sources
Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney. [PDF]
PLoS ONE, 2012 The transcription factor HNF1B, encoded by the TCF2 gene, plays an important role in the organogenesis of vertebrates. In humans, heterozygous mutations of HNF1B are associated with several diseases, such as pancreatic β-cell dysfunction leading to ...
Kathrin Sauert +6 more
doaj +4 more sources