Metabolic consequences of cystinuria
BMC Nephrology, 2019 Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard +9 more
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TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways in hepatocellular carcinoma [PDF]
, 2015 This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular carcinoma (HCC) by comparing the global gene expression profiles between tumors and their corresponding nontumorous liver tissue. Based on the differential
Ho, DWH, Kai, AKL, Ng, IOL
core +1 more source
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. [PDF]
PLoS ONE, 2014 Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria).
Marine Livrozet +10 more
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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Frontiers in Pediatrics, 2020 Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi +9 more
doaj +1 more source
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 +3 more
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Expression signatures of cisplatin- and trametinib-treated early-stage medaka melanomas [PDF]
, 2019 Small aquarium fish models provide useful systems not only for a better understanding of the molecular basis of many human diseases, but also for first-line screening to identify new drug candidates.
Boswell, William +7 more
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Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
europepmc +2 more sources
Amino acids in the uterine luminal fluid reflects the temporal changes in transporter expression in the endometrium and conceptus during early pregnancy in cattle [PDF]
, 2014 In cattle, conceptus-maternal interactions are critical for the establishment and maintenance of pregnancy. A major component of this early interaction involves the transport of nutrients and secretion of key molecules by uterine epithelial cells to help
Bazer, Fuller W. +8 more
core +9 more sources
BMC Nephrology, 2018 Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative.
Kathrin Olschok +4 more
doaj +1 more source
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
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