Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes. [PDF]
Genes Chromosomes CancerABSTRACT Approximately 10%–15% of all lung cancers arise in non‐smokers. Although there are no established aetiological factors, non‐smokers with a family history of cancer have an increased risk of lung cancer, implying host genetic factors in lung cancer susceptibility. We sought to identify, in a cohort of 75 patients recruited before lung lobectomy,
Carapezza G +10 more
europepmc +2 more sources
Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis [PDF]
Theranostics, 2017 Cysteine is an essential amino acid for infants, aged people as well as patients with metabolic disorders. Although the thiol group of cysteine side chain is active in oxidative reactions, the role of cysteine in cancer remains largely unknown. Here, we report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine ...
Jiang, Yang +7 more
openaire +2 more sources
The zebrafish cationic amino acid transporter/glycoprotein-associated family: sequence and spatiotemporal distribution during development of the transport system b 0,+ (slc3a1/slc7a9) [PDF]
, 2021 System b0,+ absorbs lysine, arginine, ornithine, and cystine, as well as some (large) neutral amino acids in the mammalian kidney and intestine. It is a heteromeric amino acid transporter made of the heavy subunit SLC3A1/rBAT and the light subunit SLC7A9/
Ellingsen, Ståle +4 more
core +2 more sources
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
doaj +1 more source
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics, 2005 Hum ...
V, Nunes +9 more
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Feline Cystinuria Caused by a Missense Mutation in the SLC3A1 Gene [PDF]
Journal of Veterinary Internal Medicine, 2015 Abstract Background Cystinuria is an inherited metabolic disease that is relatively common in dogs, but rare in cats and is characterized by defective amino acid reabsorption, leading to cystine urolithiasis. Objectives
Mizukami, K., Raj, K., Giger, U.
openaire +2 more sources
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
doaj +1 more source
DataSheet_1_Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.docx [PDF]
, 2020 BackgroundCystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU).
Yu Zheng (2950) +7 more
core +1 more source
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
doaj +1 more source