Abstract：
INTRODUCTION:Mutations of the AGXT gene encoding the alanine:glyoxylate aminotransferase liver enzyme (AGT) cause primary hyperoxaluria type 1 (PH1). Here we report a molecular modeling study of selected missense AGXT mutations: the common Gly170Arg and the recently described Gly47Arg and Ser81Leu variants, predicted to be pathogenic using standard criteria. METHODS:Taking advantage of the refined 3D structure of AGT, we computed the dimerization energy of the wild-type and mutated proteins. RESULTS:Molecular modeling predicted that Gly47Arg affects dimerization with a similar effect to that shown previously for Gly170Arg through classical biochemical approaches. In contrast, no effect on dimerization was predicted for Ser81Leu. Therefore, this probably demonstrates pathogenic properties via a different mechanism, similar to that described for the adjacent Gly82Glu mutation that affects pyridoxine binding. CONCLUSION:This study shows that the molecular modeling approach can contribute to evaluating the pathogenicity of some missense variants that affect dimerization. However, in silico studies--aimed to assess the relationship between structural change and biological effects--require the integrated use of more than 1 tool.
journal_name
J Nephroljournal_title
Journal of nephrologyauthors
Robbiano A,Frecer V,Miertus J,Zadro C,Ulivi S,Bevilacqua E,Mandrile G,De Marchi M,Miertus S,Amoroso Asubject
Has Abstractpub_date
2010-11-01 00:00:00pages
667-76issue
6eissn
1121-8428issn
1724-6059pii
597A7260-0686-4FE2-AD6E-98C59D9EE637journal_volume
23pub_type
杂志文章abstract：BACKGROUND:Adiponectin, a novel adipocytokine with antiinflammatory and antiatherosclerosis properties, has been found to be an inverse predictor of cardiovascular outcomes among uremic patients on hemodialysis. However, its role in uremic patients on continuous ambulatory peritoneal dialysis (CAPD) remains unclear. Th...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2008-09-01 00:00:00
abstract：:The attitude of 19th century (and even of 20th century) scholars toward medieval and, particularly, Anglo-Saxon medicine has been of severe criticism. According to them it was filled with superstition and stupidities. However, in these last fifty years research has proved that, compared with the Continent, Anglo-Saxon...
journal_title：Journal of nephrology
pub_type： 历史文章,杂志文章
doi：
更新日期：2009-11-01 00:00:00
abstract：BACKGROUND:Arteriovenous (AV) fistulas are crucial in patients requiring long-term hemodialysis (HD). Dysfunctions of these fistulas are the most common causes of recurrent hospitalizations. This study aimed to evaluate the feasibility, safety and usefulness of contrast-enhanced magnetic resonance angiography (CE-MRA) ...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：:The abnormal metabolism of uric acid results in many disease such as chronic kidney disease, hyperuricemia, nephrolithiasis, gout, hypertension, vascular disease and so on. Serum uric acid levels are maintained by the balance between production and elimination. There are many factors that maintain the balance of serum...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：10.1007/s40620-018-0546-7
更新日期：2019-04-01 00:00:00
abstract：BACKGROUND:Chronic kidney disease (CKD) progression is associated with significant comorbidities and costs. In Italy, limited evidence of healthcare resource consumption and costs is available. We therefore aimed to investigate the direct healthcare costs in charge to the Lombardy Regional Health Service (RHS) for the ...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-016-0291-8
更新日期：2017-04-01 00:00:00
abstract：:Sarcoidosis is a multisystem disorder of unknown etiology, which may occur in all tissues and organs of the body. Clinical presentation may be quite variable and affected by race. The most commonly affected system is the lungs with >95% of patients displaying such involvement. Renal involvement is uncommon (<2%) and m...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
abstract：:Henoch-Schonlein purpura is a clinical syndrome characterized by the association of skin, joint, and gastrointestinal symptoms. Henoch-Schonlein purpura is characterized by wide-spread vasculitis. Although the clinical symptoms of this disease are characteristic, the diagnosis is not always easy to establish because o...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2005-11-01 00:00:00
abstract：BACKGROUND:This study is part of a 3-country study testing whether normal levels of hemoglobin (Hgb) delay the progression of left ventricular (LV) growth in chronic kidney disease (CKD) patients not on dialysis. METHODS:This was an open-label, randomized, multicenter, controlled trial conducted in 27 tertiary-care ho...
journal_title：Journal of nephrology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：
更新日期：2008-11-01 00:00:00
abstract：:Acute kidney injury (AKI) is an increasing health burden with high morbidity and mortality rates worldwide. AKI is a risk factor for chronic kidney disease (CKD) development and progression to end stage renal disease (ESRD). Rapid action is required to find treatment options for AKI, plus to anticipate the development...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：10.1007/s40620-020-00793-2
更新日期：2020-12-01 00:00:00
abstract：BACKGROUND:The prominent features of autosomal dominant polycystic kidney disease (ADPKD) are early development of hypertension, chronic kidney disease and cardiovascular problems. Thus, we aimed to investigate the role of endothelin, a vascular biomarker, in the clinical course of ADPKD, including renal and cardiovasc...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-018-0514-2
更新日期：2019-02-01 00:00:00
abstract：BACKGROUND:Chronic kidney disease is a risk factor for death in the year following myocardial infarction or coronary angioplasty. Whether the risk is similar after coronary stenting, whether impaired renal function is associated with an increased risk of cardiovascular death or myocardial infarction (MI) after coronary...
journal_title：Journal of nephrology
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2006-11-01 00:00:00
abstract：BACKGROUND:In older patients with chronic kidney disease (CKD), the risk of progression to end stage renal disease and cardiovascular death both differ compared to younger patients. This likely reflects differences in case mix and co-morbid burdens. We sought to establish the extent to which age itself is an independen...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-018-0529-8
更新日期：2018-12-01 00:00:00
abstract：:We report 4 cases of sepsis-induced acute renal failure (ARF) with peculiar clinical presentation in which the renal biopsy was the only clue to a correct diagnosis. We observed 66 cases of ARF in a 4-year experience. Seven (11%) were associated with sepsis; in 3 of these (4.5%) a shock was present. Clinical picture o...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:Structural and functional alterations affecting the aging kidney predispose to an increased risk of acute renal failure (ARF) in the elderly. This is a common problem becoming more relevant because of an increase in life expectancy. The epidemiology of ARF in the elderly is far from being well assessed, because of the...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：10.5301/jn.5000141
更新日期：2012-01-01 00:00:00
abstract：:Some patients with essential hypertension manifest increased urinary albumin excretion (UAE). Hypertensive patients with microalbuminuria manifest abnormal circadian variation of blood pressure, increased serum levels of LDL-cholesterol and lipoprotein(a), a greater rise of serum insulin in response to an oral glucose...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1997-07-01 00:00:00
abstract：:The collecting duct is responsible for the final secretion or reabsorption of protons and bicarbonate, respectively. Approximately 2% of the total filtered bicarbonate is reabsorbed in this segment. At least two different types of cells are involved in the transport of protons and bicarbonate, namely, type A and B int...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：
更新日期：2002-03-01 00:00:00
abstract：:Membranous glomerulopathy (MGN) is a frequent cause for nephrotic syndrome in adults. In this overview, the basic pathogenic features of Heymann nephritis, a "classical" model of MGN in rats, are compared with those of human MGN. While the pathogenic antigen(s) of rat Heymann nephritis (the polyspecific receptor prote...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：
更新日期：2000-11-01 00:00:00
abstract：BACKGROUND:Malnutrition is common and associated with poor outcomes in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD). Recently, the geriatric nutritional risk index (GNRI) was reported as a novel tool for evaluating nutritional status. However, the association between GNRI and renal outc...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-019-00676-1
更新日期：2020-08-01 00:00:00
abstract：BACKGROUND:Peripheral artery disease (PAD) represents a major complication in chronic kidney disease (CKD) patients, but its early diagnosis is still problematic. Traditionally, ankle-arm blood pressure index (API) determined by means of a simple hand-held unidimensional Doppler device has been used for noninvasive dia...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2009-07-01 00:00:00
abstract：BACKGROUND:The patient characteristics and course of HlV/AIDS-associated nephropathy (HIVAN) are presented for a national sample of end-stage renal disease (ESRD). METHODS:375,152 patients in the United States Renal Data System were initiated on ESRD therapy between 1 January 1992 and 30 June 1997 and analyzed in an h...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2001-09-01 00:00:00
abstract：:IgM secreting myelomas or lymphomas, including Waldenström macroglobulinemia, are associated with a varied spectrum of renal pathology, including intracapillary hyaline deposits, cryoglobulin, membranoproliferative glomerulonephritis, amyloid, monoclonal immunoglobulin deposition disease, cast nephropathy, and lymphom...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-018-0544-9
更新日期：2018-12-01 00:00:00
abstract：BACKGROUND:Drug-related problems (DRPs) are common in chronic kidney disease (CKD) patients. We developed a 2-step consultation including a clinical pharmacist (CP) session and a nephrologist conventional care consultation to explore the feasibility of a pilot drug-oriented disease management program in controlling iat...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.5301/jn.5000063
更新日期：2012-09-01 00:00:00
abstract：BACKGROUND:Dialysis-requiring acute kidney injury (D-AKI) is common in hospitalized patients. Many patients survive the immediate post AKI period, thus at risk of suffering long-term sequelae of AKI. Prior studies examining long term outcomes lack non-dialyzed AKI control groups. Without non-dialyzed AKI control group,...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-016-0321-6
更新日期：2016-12-01 00:00:00
abstract：:The study was conducted to determine the association between mortality, rurality, and distance from the treatment facility of the patients with ESRD. The United States Renal Data System (USRDS) for the year 2007-08 was utilized to conduct analysis of 181,349 subjects. After adjusting for all other covariates, the odds...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-016-0324-3
更新日期：2016-12-01 00:00:00
abstract：:Cyclosporine A has been empirically used for more than 12 years in the treatment of idiopathic nephrotic syndrome, in both children and adults. There is consistent evidence, from both experimental and human studies, that the highly lipophilic cyclosporine molecule diminishes or abolishes proteinuria by two differing m...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1997-01-01 00:00:00
abstract：:Given the alarming predictions of the potentially devastating future epidemic of end-stage renal disease (ESRD), further knowledge is still urgently needed on this topic. The real dimensions of the problem are still unclear. It is difficult to compare Europe and the USA because different criteria are used in data coll...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2005-03-01 00:00:00
abstract：:Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer ...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：10.1007/s40620-016-0370-x
更新日期：2017-06-01 00:00:00
abstract：:Organ transplantation has proven to be an effective therapeutic for a wide variety of disease states, but the chronic immunosuppression required for allograft survival increases the risk for infection and neoplasia. In the past 50 years, a wealth of experimental data has been accumulated relating to strategies to pres...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：
更新日期：2010-05-01 00:00:00
abstract：:Osteoporosis and chronic kidney disease (CKD) have both independently important potential impact on bone health. A significant number of patients with CKD stages 3a-5D have been shown to have low bone mineral density (BMD), leading to a strikingly elevated risk of fractures (mainly hip fractures) and higher associated...
journal_title：Journal of nephrology
pub_type： 杂志文章,评审
doi：10.1007/s40620-017-0404-z
更新日期：2017-10-01 00:00:00
abstract：:Autosomal dominant polycystic kidney disease (ADPKD) may present with a variety of extrarenal manifestations. Only 1 case of spontaneous coronary artery dissection has been reported so far in ADPKD. Here we report a case of coronary artery dissection occurring in a 38-year-old woman with ADPKD and an unremarkable medi...
journal_title：Journal of nephrology
pub_type： 杂志文章
doi：
更新日期：2009-05-01 00:00:00
