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
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A Case of Cystinuria With Compound Heterozygous Mutations Both in <i>SLC3A1</i> and <i>SLC7A9</i> Genes. [PDF]
Electrolyte Blood PressCystinuria is an autosomal recessively inherited genetic disorder, and is typically classified into type A, caused by mutations in SLC3A1, or type B, caused by mutations in SLC7A9. While the predominance of the genotypes varies among countries, due to lack of a large scale cohort, the characterization of mutations in SLC3A1 or SLC7A9 is still limited ...
Suh SH +6 more
europepmc +3 more sources
The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones. [PDF]
Genet MedCystine stones, an autosomal recessive disorder caused by cystinuria, result from pathogenic variants of SLC3A1 and SLC7A9. Previous publications revealed that clinical prevalence is higher than genetically predicted prevalence. Heterozygotes in either gene are not stone formers.
Wilfred Wu CH +8 more
europepmc +3 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
Dihydrosanguinarine enhances tryptophan metabolism and intestinal immune function via AhR pathway activation in broilers [PDF]
Journal of Animal Science and BiotechnologyBackground Tryptophan is essential for nutrition, immunity and neural activity, but cannot be synthesized endogenously. Certain natural products influence host health by modulating the gut microbiota to promote the production of tryptophan metabolites ...
Yue Su +4 more
doaj +2 more sources
Aquaculture, Fish and FisheriesThis study examined the effects of different salinity levels and exposure time on the activity of proteolytic enzymes and the mRNA expression of amino acid (AA) and peptide transporter genes in various fish tissues of Nile tilapia (Oreochromis niloticus).
Emmanuel O. Kombat +4 more
doaj +2 more sources
Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease. [PDF]
J Diabetes InvestigWe examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Hirakawa Y, Sugawara Y, Nangaku M.
europepmc +2 more sources
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Iranian Journal of Public Health, 2021 Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi +4 more
doaj +1 more source
A case of cystinuria with a heterozygous mutation presenting with recurrent multiple renal stones in a 14-year-old boy [PDF]
Childhood Kidney Diseases, 2023 Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine.
Hye Won Cho, Min Hwa Son, Hyung Eun Yim
doaj +1 more source