Abstract:
BACKGROUND:Proteomic technology permits the investigation of genetic metabolic diseases at the level of protein expression. Changes in the expression, polypeptide structure, and posttranslational modification of individual proteins can be detected in complex mixtures of proteins. METHODS:We used high-resolution two-dimensional polyacrylamide gel electrophoresis to separate isoforms of plasma proteins and detect abnormalities of mass and/or charge. We confirmed the identity of the separated proteins by in-gel digestion with proteases and N-glycanases and then analyzed the released peptides and glycans by matrix-assisted laser-desorption ionization-time-of-flight mass spectrometry. RESULTS:Complete characterization of the polypeptide sequences and glycosylation of alpha(1)-antitrypsin isoforms was achieved in plasma from controls and from patients with three different known alpha(1)-antitrypsin deficiencies and congenital disorder of glycosylation type Ia. CONCLUSIONS:This study shows that proteomic techniques are a powerful and sensitive means of detecting changes in the amino acid sequence and abnormal posttranslational modifications of specific proteins in a complex biologic matrix.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Mills K,Mills PB,Clayton PT,Johnson AW,Whitehouse DB,Winchester BGsubject
Has Abstractpub_date
2001-11-01 00:00:00pages
2012-22issue
11eissn
0009-9147issn
1530-8561journal_volume
47pub_type
杂志文章abstract::Monoclonal antibodies were raised against neuron-specific enolase, gamma gamma-enolase, and used in an immunoradiometric assay (IRMA), with mono-disperse magnetizable particles as the solid phase. The assay's sensitivity was 0.4 microgram/L and the interassay coefficient of variation was less than 5% in the working ra...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-10-01 00:00:00
abstract::Two-dimensional protein maps of biopsies from normal mucosa, tubular adenomas (polyps), and colonic carcinomas in humans have been studied in order to obtain information on the possible precancerous role of intestinal polyps. The maps are complex and several hundred protein spots are seen after staining with Coomassie...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-04-01 00:00:00
abstract::In galactosemia, prevention of mental retardation depends on early recognition of the disorder and institution of dietary restriction of galactose. We describe an automated fluorometric micromethod for galactose in whole blood spotted on filter paper. Galactose is oxidized by galactose oxidase to D-galacto-hexadialdos...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-06-01 00:00:00
abstract::Strand displacement amplification (SDA) is an isothermal, in vitro method of amplifying a DNA sequence for diagnostic purposes. We have combined SDA with fluorescence polarization detection in a closed, homogeneous format. A fluorescently labeled oligodeoxynucleotide detector probe hybridizes to the amplification prod...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND:The American Diabetes Association task force on standardization of insulin assays in 1996 showed wide variation in assay bias. Newer assays are specific for insulin, with several now available on automated immunoassay analyzers. METHODS:In 2004, we compared 11 commercially available insulin assays by analyz...
journal_title:Clinical chemistry
pub_type: 杂志文章,多中心研究
doi:10.1373/clinchem.2006.077784
更新日期:2007-05-01 00:00:00
abstract::The precision of estimates of the sensitivity of diagnostic tests is evaluated. "Sensitivity" is defined as the fraction of diseased subjects with test values exceeding the 0.975-fractile of the distribution of control values. An estimate of the sensitivity is subject to sample variation because of variation of both c...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-04-01 00:00:00
abstract:BACKGROUND:Blockade of the renin-angiotensin system (RAS) represents a main strategy in the therapy of heart failure with reduced ejection fraction (HFrEF), but the role of active renin concentration (ARC) for guiding therapy in the presence of an RAS blockade remains to be established. This study assessed angiotensin ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2017.278705
更新日期:2018-03-01 00:00:00
abstract::In the diagnosis of chronic (as opposed to acute) liver diseases, combinations of indicators are needed to improve specificity. Alanine aminopeptidase (AAP; microsomal aminopeptidase, EC 3.4.11.2) activity in serum reportedly is a very sensitive indicator of intrahepatic cholestasis and biliary obstruction; it is also...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-03-01 00:00:00
abstract::We evaluated the effect on drug concentration of the duration of sample storage in three different tubes for blood collection: SST (Becton Dickinson), AutoSep (Terumo), and Microvette (Sarstedt), all of which contain an inert barrier (e.g., gel) for cleaner separation of serum from coagulum during centrifugation. With...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-03-01 00:00:00
abstract:BACKGROUND:The B-type natriuretic peptides (BNP and N-terminal pro-BNP) are secreted by the heart and, in the case of BNP, serve to maintain circulatory homeostasis through renal and vascular actions and oppose many effects of the renin-angiotensin system. Recent evidence suggests that in patients with severe heart fai...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2013.210435
更新日期:2014-03-01 00:00:00
abstract:BACKGROUND:The fibroblast growth factor (FGF) and FGF receptor (FGFR) axis plays a critical role in tumorigenesis, but little is known of its influence in ovarian cancer. We sought to determine the association of genetic variants in the FGF pathway with risk, therapeutic response, and survival of patients with ovarian ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2013.211490
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Variability among assays used to measure intact parathyroid hormone (iPTH) is of particular concern because of the routine use of iPTH assay results to guide management of osteodystrophy and calcium metabolism in patients with end-stage renal disease (ESRD). The aim of this study was to determine the extent ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2006.071589
更新日期:2006-09-01 00:00:00
abstract::We present a comparative evaluation of two commercial kits, the "Quantitope" and "GammaCoat," for radioimmunoassay of digoxin in serum. These kits, in which iodine-125 is used as a label, proved to suitable for digoxin assay as determined by their reproducibility, sensitivity, precision, and a regression analysis. Hem...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1976-02-01 00:00:00
abstract::We report spectrophotometric methods for quantifying sodium and potassium in serum and plasma without sample pretreatment or solvent-extraction steps. The methods are based on novel chromogenic ionophores characterized by molecular structures highly preorganized for binding, which result in exceptionally high sensitiv...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-09-01 00:00:00
abstract::We review the present knowledge of telomeres and telomerase with special attention to their role in cell proliferation, cellular senescence, and human aging. We summarize the functional aspects of telomerase in cancer, as well as its role as a useful diagnostic and prognostic tumor marker, and discuss possible approac...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1997-05-01 00:00:00
abstract::We evaluated a newly developed solid-phase immunoassay (EIA) of terminal deoxynucleotidyl transferase (TdT, EC 2.7.7.3) and compared it with the enzymatic assay of TdT involving DNA polymerase. We assessed the precision, performance characteristics, and clinical efficacy of the EIA procedure, using 249 specimens of pe...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-02-01 00:00:00
abstract:BACKGROUND:Lectin-like oxidized LDL receptor 1 (LOX-1) is implicated in atherothrombotic diseases. Activation of LOX-1 in humans can be evaluated by use of the LOX index, obtained by multiplying the circulating concentration of LOX-1 ligands containing apolipoprotein B (LAB) times that of the soluble form of LOX-1 (sLO...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2009.140707
更新日期:2010-04-01 00:00:00
abstract::Mesenteric vascular occlusion and intestinal obstruction are difficult-to-diagnose medical emergencies. We evaluated a large panel of biochemical markers as diagnostic and prognostic indicators in a rat model of intestinal infarction and partial, complete, and strangulated intestinal obstruction. After intestinal infa...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-02-01 00:00:00
abstract::We studied the association between gamma-glutamyltransferase (GGT) and apolipoproteins A or B in serum of 42 patients with various hepatobiliary diseases. Binding of the enzyme to apolipoprotein A is not related to a clearly defined disease, but appears to be mainly influenced by the ratio of total cholesterol to GGT ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-08-01 00:00:00
abstract::To assess the distribution of serum concentrations of the atherogenic lipoprotein(a) [Lp(a)] in an obese population and the possible effects of weight reduction, we determined Lp(a) in 52 white, moderately obese subjects (16 men and 36 women). The subjects were participating in a weight-reduction program of diet, exer...
journal_title:Clinical chemistry
pub_type: 临床试验,杂志文章
doi:
更新日期:1991-07-01 00:00:00
abstract::We describe the measurement of rheumatoid factor in human sera with a rate nephelometer. The National Reference Preparation for Rheumatoid Factors is used to calibrate the assay in International Units. We used Hyland Positive Control, Level I, as a secondary standard. The standard curve is exponential, but is linear w...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract::Various laboratories have reported endogenous digoxin-like immunoreactive factor(s) (DLIF) in blood from patients in renal failure or liver failure, from newborn infants, and from third-trimester pregnant women. Similar immunoreactivity has been detected in amniotic fluid, in cord blood, and in urine and serum from no...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1985-09-01 00:00:00
abstract:BACKGROUND:We previously reported a family in which the propositus and both her father and paternal grandmother had high serum aminopeptidase N (CD13; EC 3.4.11.2) activity (autosomal dominant). The molecular mass of the serum CD13 polypeptide of the propositus was larger than that of normal CD13, suggesting either a m...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract::An enzymatic, fluorometric method is described for determination of serum urea on silicone-rubber pads. In this method, the reagents are lyophilized on the surface of the pads, NADH on one side and a mixture of urease, glutamate dehydrogenase, and alpha-ketoglutarate on the other. The rate of disappearance of NADH flu...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1975-01-01 00:00:00
abstract::We studied several risk factors in relation to parental cardiovascular heart disease: total cholesterol, triglycerides, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein (apo) A-I, apo B, and lipoprotein(a) [Lp(a)] were determined in 322 serum samples (43 from subjec...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
abstract::This HPLC/immunoassay procedure measures digoxin in serum with no interference from digoxin metabolites or digoxin-like factors. We used solid-phase (C18 and Diol) extraction, a C18 column with a tetrahydrofuran/water mobile phase, and final quantification by fluorescence polarization immunoassay. Deslanoside and gito...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract:BACKGROUND:The thiopurine S:-methyltransferase (TPMT) genetic polymorphism has a significant clinical impact on the toxicity of thiopurine drugs, which are used in the treatment of leukemia and as immunosuppressants. To date, 10 mutant alleles are known that are associated with intermediate or low TPMT activity. To fac...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract::Immunoradiometric analysis has made it possible to measure ferritin reliably in serum. The determination is a sensitive means of assessing body iron because concentrations of ferritin closely parallel the body's reticuloendothelial iron stores. The information provided is similar to that obtained from bone-marrow aspi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::We compared the activities of thyroid-stimulating antibodies (TSAb) measured in cultures of human thyrocytes and the values for thyrotropin-receptor antibodies (TRAb) as measured with a commercial kit based on use of radiolabeled receptors. Sera were obtained from patients with Graves' disease before, during, and afte...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-07-01 00:00:00
abstract:BACKGROUND:The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatmen...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2014.230086
更新日期:2015-01-01 00:00:00