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 +3 more sources
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis [PDF]
Kidney International ReportsIntroduction: The incidence of pediatric nephrolithiasis has been increasing, and the role of genetic factors has garnered attention in recent years. This study aimed to explore the genetic basis underlying pediatric nephrolithiasis in Chinese population.
Xiaochuan Wang +10 more
doaj +2 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 +4 more sources
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience [PDF]
Biomedicines, 2023 Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients ...
Jae Yong Jeong +6 more
doaj +2 more sources
Nutritional and managerial interventions on growth performance, nutrient transport-related genes and behavioral responses in heats stressed broiler chickens [PDF]
Veterinary and Animal ScienceThe present study aimed to investigate the effect of nutritional additives and management on performance, behavioral responses, energy metabolism and expression of stress, antioxidant, growth, and nutrient transport-related genes in broiler chickens ...
Abolfazl Ghaleghafi +2 more
doaj +2 more sources
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study
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 +3 more sources
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
Carsten A Wagner, Thomas Eggermann
exaly +3 more sources
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria [PDF]
Kidney International, 2006 Cystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. It is caused by the defective transport of cystine and dibasic amino acids in the proximal renal tubules and intestinal epithelium. Two genes responsible for this, SLC3A1 and SLC7A9, are known. Patients with two SLC3A1 mutations are classified as type A cystinuria,
Chan, YW +12 more
exaly +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 +6 more sources
Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers [PDF]
Journal of the American Society of Nephrology: JASN, 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 ...
Luisa De Sanctis +2 more
exaly +4 more sources