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 mutation in the CD13 gene or an abnormality in posttranslational modification of CD13 polypeptide in this family. METHODS:Reverse transcription-PCR and direct sequencing were performed with leukocyte CD13 mRNA from the propositus. Two-dimensional electrophoresis and N-terminal amino acid sequencing were performed with serum CD13 from the propositus, the father of the propositus, and healthy volunteers. RESULTS:The sequence of the CD13 cDNA of the propositus was essentially identical with that reported previously. However, the CD13 polypeptide of the propositus and the father of the propositus was truncated, lacking amino acids 1-43 of intact CD13 (43-truncated CD13), whereas CD13 lacking residues 1-58 (58-truncated CD13) and 43-truncated CD13 were detected in serum from healthy volunteers. CONCLUSIONS:In serum from healthy volunteers, we found both 58-truncated CD13, a major isoform reported previously, and 43-truncated CD13, a novel, minor isoform with a larger polypeptide. In serum of the family, 43-truncated CD13 was extremely concentrated, suggesting that proteolytic cleavage of CD13 amino acids 43 and 44 (43-truncation) is abnormally promoted. Because no mutation was found in the CD13 cDNA from the propositus, increased serum CD13 in this family seems to be caused by a mutation in a gene that regulates 43-truncation protease activity.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Kawai M,Hara Y,Miyazato I,Hosaki Ssubject
Has Abstractpub_date
2001-02-01 00:00:00pages
223-30issue
2eissn
0009-9147issn
1530-8561journal_volume
47pub_type
杂志文章abstract::In iron deficiency, zinc protoporphyrin (ZPP) is produced instead of heme, and the ZPP concentration in erythrocytes is increased (normal < or = 40 mumol/mol heme). We investigated the relevance of ZPP for staging iron deficiency. ZPP was determined by hematofluorometry in samples from 103 patients. Nineteen patients ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract:BACKGROUND:Patients differ in responses to warfarin, which is commonly prescribed to treat thromboembolic events. Genetic variations in the cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), vitamin K epoxide reductase complex, subunit 1 (VKORC1), and gamma-glutamyl carboxylase (GGCX) genes have been shown...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.118497
更新日期:2009-04-01 00:00:00
abstract::Market forces have dramatically influenced the environment in which healthcare is delivered, but these changes do not need to be interpreted negatively by community laboratorians. Only total vertical integration of laboratory medicine can control episode-of-care cost. Opportunities also exist for horizontal integratio...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1996-05-01 00:00:00
abstract::A new enzymic method is described for the determination of creatine in urine by continuous-flow analysis. The measurement is accomplished by transforming creatine to formaldehyde in reactions catalyzed by creatinase (creatine amidinohydrolase) and sarcosine dehydrogenase. The formaldehyde is reacted with 4-amino-3-hyd...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-11-01 00:00:00
abstract::This enzyme immunoassay detects adenosine deaminase binding protein (ABP), a glycoprotein that is shed from the brush border of the proximal tubule in kidney damage. Two monoclonal antibodies, URO-4 and URO-4a, each react with different epitopes on ABP and are used as the "sandwich" pair of antibodies. A linear standa...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-05-01 00:00:00
abstract:BACKGROUND:In this study we demonstrate the technical application of flow cytometry and cell sorting combined with gene-rearrangement clonality profiling to detect and confirm minimal disease in 2 leukemia and 2 lymphoma cases. METHODS:Specimens with low percentages (0.05%-5%) of abnormal lymphoid populations were ide...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2005.061259
更新日期:2006-03-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract::A triclonal gammopathy is an immunoglobulin abnormality in which three discrete monoclonal subpopulations of immunoglobulin molecules are present in a patient's serum. Monoclonal and biclonal gammopathies have been studied extensively, but relatively little is known about the much rarer triclonal gammopathies. The cas...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::Laboratories of the Lipid Research Clinics Program (LRC) maintained the accuracy of their measurements of total cholesterol by using seven pooled serum calibrators supplied by the Centers for Disease Control (CDC). Over the 11-year life of the LRC, each calibrator was prepared in succession and a target value was assi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-04-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章,随机对照试验
doi:10.1373/clinchem.2014.234955
更新日期:2015-04-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章,随机对照试验
doi:10.1373/clinchem.2014.222430
更新日期:2014-10-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1985-08-01 00:00:00
abstract:BACKGROUND:An accelerated stability model based on the Arrhenius Equation can be used to estimate stability of diagnostic reagents. Here we review 3 examples in which the model does not accurately predict the stability of diagnostic reagents. METHODS:We prepared several pilot lots of quality controls materials contain...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1093/clinchem/hvaa282
更新日期:2020-12-04 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2019.307405
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Our previously developed assay for detection of the factor V Leiden mutation (G1691A) based on a nucleic acid photo-cross-linking technology used two allele-specific capture probes and six fluorescein-modified signal-generating reporter probes. We wished to improve the sensitivity and performance of the meth...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2003.023556
更新日期:2004-02-01 00:00:00
abstract::We describe an enzyme-linked immunosorbent assay (ELISA) for urinary albumin. It requires only commercially available reagents, can detect as little as 16 micrograms of albumin per liter, and analytical recovery ranges from 92 to 116%. The assay is simple, rapid, and inexpensive. Albumin excretion was 6.2 (SD 4.1) mg/...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-04-01 00:00:00
abstract:BACKGROUND:Prostate-specific antigen (PSA) is a valuable prostatic cancer biomarker that is now widely used for population screening, diagnosis, and monitoring of patients with prostate cancer. Despite the voluminous literature on this biomarker, relatively few reports have addressed the issue of its physiological func...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:2000-07-01 00:00:00
abstract::Using the Selected Method of McKenzie and Henderson (Selected Methods Clin Chem 1983;10:59-67) as a reference method, we compared the performance of 10 commercially available methods for determination of lactate dehydrogenase (LD, EC 1.1.1.27) isoenzymes. Results were expressed as percentage of total LD activity, as d...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-09-01 00:00:00
abstract:BACKGROUND:Apolipoprotein (apo) E is a component of two major classes of plasma lipoproteins, apo B- (apo E-LpB) and non-apo B-containing (apo E-Lp-non-B) lipoproteins. The factors that affect total apo E in particles [lipoprotein E (LpE), apo E-Lp-non-B, and apo E-LpB], are incompletely characterized. METHODS:We stud...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract::We immunoenzymometrically measured creatine kinase (CK) isoenzyme MB in extracts of myocardium and in homogenates of five different skeletal muscles. CK-MB concentrations in the former averaged 80.9 micrograms/g wet tissue; in the skeletal muscles it varied widely, being (e.g.) 25-fold greater in diaphragm than in pso...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1978-09-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1993-11-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 临床试验,杂志文章
doi:10.1373/clinchem.2016.260471
更新日期:2017-01-01 00:00:00
abstract::Biological variation is inherent in all medical tests and is a major source of error in clinical test interpretation. We use inherent test error due to biological variability as the touchstone by which to validate the clinical acceptability of analytical goals. Analytical goals should consist of sets of complementary ...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Although lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) levels are associated with cardiovascular events, Lp-PLA(2) is physically linked to LDL cholesterol (LDL-C). Whether measures of Lp-PLA(2) mass or activity continue to predict risk after LDL-C reduction by statin therapy is uncertain. METHODS:Lp...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2011.180281
更新日期:2012-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2014.236380
更新日期:2015-06-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
abstract:BACKGROUND:Tartrate-resistant acid phosphatase (AcP) 5b is a marker of osteoclastic activity and bone resorption. Immunoassays for serum TRAcP may lack sensitivity and specificity because of the presence of non-bone isoform 5a. The purpose of this study was to isolate the serum isoforms, quantify their disease-related ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::During phase I/II clinical trials of sirolimus (rapamycin; SRL), therapeutic drug monitoring was performed with a multistep liquid-liquid extraction of 1-mL aliquots of whole blood followed by reversed-phase HPLC with ultraviolet detection. Blood was sampled according to a standardized protocol and clinical status. SR...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1996-12-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-12-01 00:00:00