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Page 1
The SLC3 and SLC7 families of amino acid transporters.
Fotiadis D, Kanai Y, Palacín M. Fotiadis D, et al. Mol Aspects Med. 2013 Apr-Jun;34(2-3):139-58. doi: 10.1016/j.mam.2012.10.007. Mol Aspects Med. 2013. PMID: 23506863 Review.
The SLC7 family is divided into two subfamilies, the cationic amino acid transporters (CATs), and the L-type amino acid transporters (LATs). The latter are the light or catalytic subunits of the heteromeric amino acid transporters (HATs), which are associated by a disulfid …
The SLC7 family is divided into two subfamilies, the cationic amino acid transporters (CATs), and the L-type amino acid transporters …
Cystinuria.
Dello Strologo L, Rizzoni G. Dello Strologo L, et al. Acta Paediatr Suppl. 2006 Jul;95(452):31-3. doi: 10.1080/08035320600649473. Acta Paediatr Suppl. 2006. PMID: 16801163 Review.
A new classification is therefore needed: type A due to two mutations of SLC3A1 on chromosome 2, and type B due to two mutations of SLC7A9 on chromosome 19. ...CONCLUSION: Following new achievements in the genetics of cystinuria, a new classification has been …
A new classification is therefore needed: type A due to two mutations of SLC3A1 on chromosome 2, and type B due to two mutatio …
Cystinuria.
Mattoo A, Goldfarb DS. Mattoo A, et al. Semin Nephrol. 2008 Mar;28(2):181-91. doi: 10.1016/j.semnephrol.2008.01.011. Semin Nephrol. 2008. PMID: 18359399 Review.
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. ...Thus far, mutations in 2 genes, SLC3A1 and SLC7A9, have been identified as being responsible for most cas …
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and t …
Proteomics and tubulopathies.
Vilasi A, Capasso G. Vilasi A, et al. J Nephrol. 2010 Nov-Dec;23 Suppl 16:S221-7. J Nephrol. 2010. PMID: 21170884 Review.
Molecular genetics has allowed the identification and elucidation of the structure, function and effects of the mutations of several of the main transporters and ion channels involved in renal disorders. Some renal stone disorders, such as cystinuria and Dent's disease, ha …
Molecular genetics has allowed the identification and elucidation of the structure, function and effects of the mutations of several of the …
Cystinuria.
Milliner DS. Milliner DS. Endocrinol Metab Clin North Am. 1990 Dec;19(4):889-907. Endocrinol Metab Clin North Am. 1990. PMID: 2081517 Review.
Type II is characterized by markedly reduced or absent intestinal transport of cystine. Heterozygotes for type II show significantly elevated urine cystine but less than is seen in homozygotes. ...
Type II is characterized by markedly reduced or absent intestinal transport of cystine. Heterozygotes for type II show signifi …
Unraveling the natural history of presymptomatic cystinuria.
Tokhmafshan F, Goodyer PR. Tokhmafshan F, et al. Curr Opin Nephrol Hypertens. 2023 May 1;32(3):297-304. doi: 10.1097/MNH.0000000000000880. Epub 2023 Mar 20. Curr Opin Nephrol Hypertens. 2023. PMID: 37013453 Review.
Significant questions remain about the natural history of cystinuria in presymptomatic children. RECENT FINDINGS: We review the natural history of cystinuria in presymptomatic children followed from birth. ...Type B/B patients had lower cystine excretion than …
Significant questions remain about the natural history of cystinuria in presymptomatic children. RECENT FINDINGS: We review the natur …
Pathophysiology and treatment of cystinuria.
Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M. Chillarón J, et al. Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1. Nat Rev Nephrol. 2010. PMID: 20517292 Review.
Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amino acid transport protein rBAT and b(0,+)-type amino acid transporter 1) of the amino acid transport system b(0,+). ...This Review exa …
Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amin …
Characteristics of renal papillae in kidney stone formers.
Marien TP, Miller NL. Marien TP, et al. Minerva Urol Nefrol. 2016 Dec;68(6):496-515. Epub 2016 Jul 21. Minerva Urol Nefrol. 2016. PMID: 27441596 Review.
The groups studied and reviewed here are kidney stone formers who have a history of idiopathic calcium oxalate stone formation, cystinuria, brushite stones, gastric bypass, ileostomy, small bowel resection, primary hyperparathyroidism, distal renal tubular acidosis (dRTA), …
The groups studied and reviewed here are kidney stone formers who have a history of idiopathic calcium oxalate stone formation, cystinuri …
Congenital and acquired diseases related to stone formation.
Veser J, Özsoy M, Seitz C. Veser J, et al. Curr Opin Urol. 2018 Sep;28(5):414-419. doi: 10.1097/MOU.0000000000000522. Curr Opin Urol. 2018. PMID: 29957682 Review.
RECENT FINDINGS: Urolithiasis is related to a broad spectrum of congenital and acquired diseases and its management varies according to the stone type, underlying disease or recurrence rate, but it also changes according to recent findings and developments. ...This prompt …
RECENT FINDINGS: Urolithiasis is related to a broad spectrum of congenital and acquired diseases and its management varies according to the …
[Cystinuria].
Dello Strologo L, Laurenzi C, Emma F. Dello Strologo L, et al. G Ital Nefrol. 2010 Jan-Feb;27(1):30-6. G Ital Nefrol. 2010. PMID: 20191458 Review. Italian.
According to the most recent genetic knowledge, there are two types of cystinuria. The disease is more severe in men than in women in terms of early appearance and number of produced stones. Renal function is generally maintained even after long-lasting disease. Type …
According to the most recent genetic knowledge, there are two types of cystinuria. The disease is more severe in men than in women in …
40 results