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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.
The two types of cystinuria (A and B) have a similar outcome. A mild renal failure is present in 17% of patients. ...CONCLUSION: Following new achievements in the genetics of cystinuria, a new classification has been proposed. Cystinuria is more severe in mal …
The two types of cystinuria (A and B) have a similar outcome. A mild renal failure is present in 17% of patients. ...CONCLUSION: Foll …
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. ...With the discovery of mutated genes, the classification of patients with cystinuria has been chang
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 …
An update and practical guide to renal stone management.
Johri N, Cooper B, Robertson W, Choong S, Rickards D, Unwin R. Johri N, et al. Nephron Clin Pract. 2010;116(3):c159-71. doi: 10.1159/000317196. Epub 2010 Jul 2. Nephron Clin Pract. 2010. PMID: 20606476 Free article. Review.
Indeed, it is becoming apparent that renal stone disease is often part of a larger 'metabolic picture' commonly associated with type 2 diabetes, obesity, dyslipidaemia, and hypertension. Renal stone disease is a growing problem in the UK (and other developed and developing …
Indeed, it is becoming apparent that renal stone disease is often part of a larger 'metabolic picture' commonly associated with type
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