Abstract:
:Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis. Mutations in a gene encoding a renal amino acid transporter (SLC3A1) have been identified in patients with cystinuria establishing one molecular cause for the disease. To facilitate systematic screening of this gene for mutations, we have delineated the complete genomic organization of the SLC3A1 coding region using polymerase chain reaction strategies. The complete coding region of the gene is contained within a single yeast artificial chromosome clone and consists of 10 exons and 9 introns. Oligonucleotide primers capable of amplifying selected exons have been made and used in mutational analysis of DNA from 24 cystinuria probands. We illustrate the usefulness of this approach by identifying two novel SLC3A1 mutations. One novel mutation causes replacement of a highly conserved arginine residue (arginine-452) with tryptophan in the cytoplasmic loop between the putative third and fourth membrane spanning segments. A second previously unreported mutation results in replacement of a highly conserved tyrosine (tyrosine-461) residue with histidine in the same region of the protein. In addition, we detected three previously reported SLC3A1 mutations, R270X, 1500 +1/G to T, and M467T, the latter being present in approximately 20% of cystinuria chromosomes examined. Our findings provide a foundation for the development of more accessible diagnostic screening assays for detecting SLC3A1 mutations using patient genomic DNA, and also contribute to the emerging spectrum of cystinuria genotypes.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Endsley JK,Phillips JA 3rd,Hruska KA,Denneberg T,Carlson J,George AL Jrdoi
10.1038/ki.1997.258subject
Has Abstractpub_date
1997-06-01 00:00:00pages
1893-9issue
6eissn
0085-2538issn
1523-1755pii
S0085-2538(15)60098-9journal_volume
51pub_type
杂志文章abstract::Cilnidipine, a dual L-/N-type calcium channel blocker, dilates both efferent and afferent arterioles and is renoprotective. Our multi-center, open-labeled, and randomized trial compared the antiproteinuric effect of cilnidipine with that of amlodipine in hypertensive patients with kidney disease. A group of 339 patien...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/sj.ki.5002623
更新日期:2007-12-01 00:00:00
abstract::Erythropoietin (Epo) is essential for erythropoiesis and is mainly produced by the fetal liver and the adult kidney following hypoxic stimulation. Epo regulation is commonly studied in hepatoma cell lines, but differences in Epo regulation between kidney and liver limit the understanding of Epo dysregulation in polycy...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.08.043
更新日期:2019-02-01 00:00:00
abstract::Injury resulting from ischemia-reperfusion injury is a multifactorial process involving compromised function in both the tubular and the vascular compartments. Multiple vasoactive compounds have been implicated in the profound vasoconstriction that occurs in response to ischemia-reperfusion injury, and many of these f...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2011.145
更新日期:2011-08-01 00:00:00
abstract:BACKGROUND:Human immunodeficiency virus-associated nephropathy (HIVAN) has become the third leading cause of end-stage renal disease (ESRD) in African Americans, and is expected to grow exponentially. Highly active antiretroviral therapy (HAART) has significantly prolonged the survival of patients with HIV infection. D...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2005.00245.x
更新日期:2005-04-01 00:00:00
abstract:BACKGROUND:Microarray technology is a powerful tool that can probe the molecular pathogenesis of renal injury. In this present study microarray analysis was used to monitor serial changes in the renal transcriptome of a rat model of mesangial proliferative glomerulonephritis. Administration of anti-Thy1 antibody result...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2005.00661.x
更新日期:2005-12-01 00:00:00
abstract::Mutations in the MYH9 gene, coding for the non-muscle myosin heavy chain IIA (NMHC-IIA), are responsible for syndromes characterized by macrothrombocytopenia associated with deafness, cataracts, and severe glomerular disease. Electron microscopy of renal biopsies from these patients found glomerular abnormalities char...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2011.256
更新日期:2011-11-01 00:00:00
abstract::Ambulatory blood pressure monitoring (ABPM) remains a reference standard, but the minimal number of ABPM readings required to diagnose hypertension has not been empirically validated. Among 360 patients with chronic kidney disease and 38 healthy controls, 24-hour blood pressure was recorded 2 times per hour during the...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.08.021
更新日期:2018-12-01 00:00:00
abstract::Until recently, intravenous cyclophosphamide pulses with oral corticosteroids were regarded standard therapy for proliferative lupus nephritis (LN). Azathioprine, a less toxic alternative, was never proven to be inferior. In the first Dutch lupus nephritis study (enrollment between 1995 and 2001), we randomized 87 pro...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1038/sj.ki.5001630
更新日期:2006-08-01 00:00:00
abstract::Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly describe...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.12.017
更新日期:2017-05-01 00:00:00
abstract::Polycystin-1 (PC1) and -2 (PC2), products of the PKD1 and PKD2 genes, are mutated in autosomal dominant polycystic kidney disease (ADPKD). They localize to the primary cilia; however, their ciliary function is in dispute. Loss of either the primary cilia or PC1 or PC2 causes cyst formation. However, loss of both cilia...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.05.049
更新日期:2020-11-01 00:00:00
abstract::Loss of hypoxic vasodilation has been proposed as a causative factor in the development of hypertension in dialysis patients treated with recombinant human erythropoietin (rHuEPO). Venous occlusion plethysmography was therefore performed on 22 dialysis patients (aged 23 to 71 years, dialysis duration 6 to 260 months, ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.376
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:Tubulointerstitial inflammation and fibrosis are pathologic hallmarks of end-stage renal disease (ESRD). Here we have used DNA microarray technology to monitor the transcriptomic responses to murine unilateral ureteral obstruction (UUO) with a view to identifying molecular modulators of tubulointerstitial fi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00306.x
更新日期:2003-12-01 00:00:00
abstract::Eight patients with chronic renal failure (GFR 18.8 +/- 2.7 ml/min) were randomized to a crossover comparison of a very low protein diet (VLPD) containing 0.28 g protein and 35 kcal per kg per day, plus an isosmolar mixture of either ketoacids (KA) or essential amino acids (EAA). Subjects initiated the diets 14 days b...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1038/ki.1994.157
更新日期:1994-04-01 00:00:00
abstract::Transport and metabolism of adenosine were studied in the S1, S2, and S3 segments of the rabbit proximal renal tubule. Isolated segments were perfused in vitro with uniformly labelled 14C-adenosine to measure the lumen-to-bath flux of adenosine. This flux rate was measured by the disappearance of 14C from the luminal ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.174
更新日期:1992-05-01 00:00:00
abstract::A cyclical corticosteroid-cyclophosphamide regimen is recommended for patients with primary membranous nephropathy at high risk of progression. We hypothesized that sequential therapy with tacrolimus and rituximab is superior to cyclical alternating treatment with corticosteroids and cyclophosphamide in inducing persi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.10.014
更新日期:2020-11-07 00:00:00
abstract::The pathogenesis of the multiple structural lesions in diabetic nephropathy remains debated, and likely is multifactorial. The uniform thickening of the renal basement membranes lining the glomerular and tubular elements appears to be a consequence of the metabolic perturbations which are directly related to hyperglyc...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.1993.19
更新日期:1993-01-01 00:00:00
abstract::Indomethacin has been used to lower proteinuria in human glomerular diseases with controversial results. The mechanism of indomethacin beneficial effects has not been established. A possible explanation is that indomethacin reduces proteinuria by inhibiting the synthesis of renal prostaglandins (PGs); however, appropr...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1987.147
更新日期:1987-06-01 00:00:00
abstract::Idiopathic retroperitoneal fibrosis (IRF) is a rare disease often causing obstructive uropathy. We evaluated the clinicopathologic features of 24 patients with IRF to characterize the histopathology of the disease and to provide a framework for the differential diagnosis with other retroperitoneal fibrosing conditions...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002427
更新日期:2007-09-01 00:00:00
abstract::The effects of two models of chronic hypercalcemia on renal acid-base metabolism were studied in rats. In the first series of experiments, rats were rendered hyperparathyroid by the autologous grafting of 20 to 24 parathyroid glands into a single recipient. Hypercalcemia (5.48 +/- 0.03 mEq/liter in high PTH animals, 4...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1982.68
更新日期:1982-04-01 00:00:00
abstract::In this issue, McMahon et al. report that, by combining phenotypic, metabolomic, and genetic data, they could better detect chronic kidney disease at the early stages and provide insight into its pathobiology. The most significant findings of the study are that several urinary metabolites (e.g., glycine and histidine)...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2017.03.022
更新日期:2017-06-01 00:00:00
abstract::Despite the high costs of treatment of people with kidney disease and associated comorbid conditions, the amount of reliable information available to guide the care of such patients is very limited. Some treatments have been assessed in randomized trials, but most such trials have been too small to detect treatment ef...
journal_title:Kidney international
pub_type:
doi:10.1016/j.kint.2017.04.019
更新日期:2017-08-01 00:00:00
abstract::Neutrophil gelatinase-associated lipocalin (Ngal) is a biomarker for acute and chronic renal injuries, including polycystic kidney disease (PKD). However, the effect of Ngal on PKD progression remains unexplored. To study this, we generated 3 strains of mice with different expression levels of Ngal within an establish...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.09.005
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Atherosclerotic vascular disease is the leading cause of death in patients with diabetes mellitus and end-stage renal disease. Advanced glycation end products (AGEs) are strongly suggested to be involved in the pathogenesis of atherosclerosis in these patients who also frequently experience infectious compli...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00157.x
更新日期:1998-11-01 00:00:00
abstract::Monocyte and macrophage markers are among the most highly overexpressed genes in cpk mouse kidneys with severely progressive renal cystic disease. We show here that one of these markers, CD14, is abnormally transcribed, activated and shed in cystic kidneys. However, these abnormalities were not associated with an incr...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2010.175
更新日期:2010-09-01 00:00:00
abstract::Ambient glucose concentrations alter type 1 angiotensin II receptor (AT1R) expression in renal tissues. The direction of change in AT1R density may depend on the specific cell type and the capacity for that cell type to use glucose as an energy substrate. Given the effects of angiotensin II (Ang II) in proximal tubule...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.307
更新日期:1997-07-01 00:00:00
abstract::A study of dialysis costs in five major dialysis centers throughout the United States was conducted in 1973. When available, home, home training, limited care, satellite and in-hospital-full-care dialysis were included. The study's objective was to determine the cost per dialysis for each separate dialysis modality. A...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1976.31
更新日期:1976-03-01 00:00:00
abstract::It has been convincingly documented that reactive oxygen species released from activated neutrophils mediate glomerular damage in experimental glomerulonephritis. Recent findings that antineutrophil cytoplasmic autoantibodies (ANCA) induce neutrophils to degranulate and produce oxygen radicals in vitro led us to explo...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.233
更新日期:1993-07-01 00:00:00
abstract::In his hypothesis of the evolution of renal functions Homer Smith proposed that the formation of glomerular nephron and body armor had been adequate for the appearance of primitive vertebrates in fresh water and that the adaptation of homoiotherms to terrestrial life was accompanied by the appearance of the loop of He...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.1996.220
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:Nephrotoxic glomerulonephritis is induced by the administration of antibody against the glomerular basement membrane (GBM). We demonstrated previously that Fc receptors for immunoglobulin G (IgG) (FcgammaR) play crucial roles in the induction of accelerated nephrotoxic glomerulonephritis by using FcRgamma-de...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00203.x
更新日期:2003-10-01 00:00:00
abstract::The biological action of calcitriol is mediated through a hormone-receptor complex interacting with nuclear chromatin. Interaction of the calcitriol receptor (VDR) with VDR response elements produces bioactive proteins which carry out the physiological actions of calcitriol. Since biological response to calcitriol app...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.252
更新日期:1994-07-01 00:00:00