Results 71 to 80 of about 6,103 (223)

Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

مجله دانشکده پزشکی اصفهان, 2014
Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand, Mehrdad Mohammadi, Rasoul Salehi, Behrouz Ezatpour, Majid Kheirollahi   +4 more
doaj  

Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. [PDF]

PLoS ONE, 2016
Cystinuria is a classical inborn error of metabolism characterized by a selective proximal renal tubular defect affecting cystine, ornithine, lysine, and arginine (COLA) reabsorption, which can lead to uroliths and urinary obstruction.
Keijiro Mizukami, Karthik Raj, Carl Osborne, Urs Giger   +3 more
doaj   +1 more source

Renal stones in two children with two rare etiologies

Saudi Journal of Kidney Diseases and Transplantation, 2018
The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity.
Gurinder Kumar, Rami Raad AlAni
doaj   +1 more source

CATs and HATs: the SLC7 family of amino acid transporters [PDF]

, 2018
The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the CAT family, SLC7A1-4) and the glycoprotein-associated amino acid transporters (the gpaAT family, SLC7A5-11), also called light chains or catalytic chains of the ...
Closs, Ellen, Endou, Hitoshi, Kanai, Yoshikatsu, Palacin, Manuel, Verrey, François, Wagner, Carsten   +5 more
core  

α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases

Pediatrics, 2020
In this study, we report beneficial effects of a nutritional supplement (ALA) in improving cystine solubility and reducing kidney stone burden in 2 pediatric patients with cystinuria.
Onur Cil, Farzana Perwad
semanticscholar   +1 more source

The impact of surgical intervention on renal function in cystinuria

Brazilian Journal of Nephrology, 2018
Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions.
Serra Sürmeli Döven, Ali Delibaş, Hakan Taşkınlar, Ali Naycı   +3 more
doaj   +1 more source

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report

Clinical Case Reports
Key Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9‐related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal ...
Osaretin Pamela Aigbogun, Noémie Vancoppenolle, Sandra Coppens, Martina Marangoni, Elodie Elsen, Marie Cassart, Caroline Gounongbe   +6 more
doaj   +1 more source

An integrated 4249 marker FISH/RH map of the canine genome [PDF]

, 2004
BACKGROUND: The 156 breeds of dog recognized by the American Kennel Club offer a unique opportunity to map genes important in genetic variation. Each breed features a defining constellation of morphological and behavioral traits, often generated by ...
André, Catherine, Breen, Matthew, Cadieu, Edouard, Evanno, Gwenaelle, Fraser, Claire M, Galibert, Francis, Gelfenbeyn, Boris, Guyon, Richard, Hitte, Christophe, Hudson, Ruth, Kirkness, Ewen F, Lorentzen, Travis D, Mahairas, Gregory G, Ostrander, Elaine A, Parker, Heidi G, Sabacan, Leah, Scott, Allyson, Thomas, Rachael   +17 more
core   +3 more sources

Comprehensive proteomic quantification of bladder stone progression in a cystinuric mouse model using data-independent acquisitions.

PLoS ONE, 2022
Cystinuria is one of various disorders that cause biomineralization in the urinary system, including bladder stone formation in humans. It is most prevalent in children and adolescents and more aggressive in males.
Jacob Rose, Nathan Basisty, Tiffany Zee, Cameron Wehrfritz, Neelanjan Bose, Pierre-Yves Desprez, Pankaj Kapahi, Marshall Stoller, Birgit Schilling   +8 more
doaj   +1 more source

Urinary Amino Acid Patterns in Cystinuric Families [PDF]

, 1974
1974-03The urinary amino acid patterns in parents of four cystine stone formers were investigated in order to determine the genetic types of the cystinuric families.
46618, 46619, KATO, TOMOAKI, SUGIURA, JUNICHI   +3 more
core