Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01034 (cystatin C)
 3,397 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The blood serum concentrations of creatinine and the low molecular weight proteins cystatin C, beta 2-microglobulin and retinol-binding protein were measured in 106 patients whose glomerular filtration rates were assessed by Cr-ethylenediaminetetraacetate (EDTA)-clearance determinations. The reciprocals of the serum concentrations of creatinine, cystatin C and beta 2-microglobulin were closely correlated to the Cr-EDTA-clearance (r = 0.73, 0.75 and 0.70, respectively) in contrast to the corresponding values for retinol-binding protein (r = 0.39). The calculated values of the glomerular elimination rate for creatinine and cystatin C were normally distributed in contrast to those for beta 2-microglobulin. The calculated glomerular elimination rate of cystatin C was not correlated to age, sex, type of disorder or disease activity. The results demonstrate that the serum level of cystatin C is a better measure of the glomerular filtration rate than the serum level of beta 2-microglobulin.
Scand J Clin Lab Invest 1985 Apr
PMID:The blood serum concentration of cystatin C (gamma-trace) as a measure of the glomerular filtration rate. 392 7

gamma-Trace, a small protein occurring in body fluids and in secretory and neuroendocrine cells, was demonstrated by immunohistochemical techniques in the cytoplasm of the tumor cells of 13 pituitary adenomas obtained at surgery and autopsy. Seven of the adenomas also contained LH immunoreactivity. FSH, TSH, and ACTH were each found in one gamma-trace-containing adenoma. gamma-Trace was also demonstrated in extracts of 1 pituitary adenoma and of 5 nontumorous adenohypophyses. The immunoreactive protein found in the extracts had a molecular weight and electrophoretic mobility characteristic of gamma-trace. Computerized amino acid sequence comparisons between the primary structure of gamma-trace and those of known hormonal peptides showed no significant similarities.
J Clin Endocrinol Metab 1984 Jul
PMID:gamma-trace in human pituitary adenomas. 637 15

Fresh human seminal plasma was demonstrated to contain a basic microprotein with the same size, electrophoretic mobility, isoelectric point and immunochemical properties as isolated human gamma-trace. The concentration of gamma-trace in 24 normal seminal plasma samples was found to be (mean +/- SD): 51 +/- 8.1 mg/l which is 36 times higher than the normal human blood plasma concentration of gamma-trace.
Scand J Clin Lab Invest 1983 Sep
PMID:The gamma-trace concentration of normal human seminal plasma is thirty-six times that of normal human blood plasma. 641 67

We describe a fully automated particle-enhanced turbidimetric assay for cystatin C in undiluted serum and EDTA-plasma. The throughput is 90 samples per hour and urgent samples can be analyzed in 7 min. The assay range (0.4-14.1 mg/L) covers the concentration range in health and disease. The within- and between-run imprecision is 0.9% and 2.2%, respectively. Analytical recovery of additions of recombinant cystatin C averaged 98%. Rheumatoid factors (< or = 323,000 IU/L), bilirubin (< or = 150 mumol/L), hemoglobin (< or = 1.2 g/L), and triglycerides (< or = 8.5 mmol/L) do not interfere in the assay. In view of the superior (by ROC analysis) diagnostic accuracy of serum concentrations of cystatin C for reduced glomerular filtration rate (GFR) in comparison with creatinine, cystatin C seems an attractive alternative to creatinine for estimation of GFR.
Clin Chem 1994 Oct
PMID:Serum cystatin C, determined by a rapid, automated particle-enhanced turbidimetric method, is a better marker than serum creatinine for glomerular filtration rate. 792 73

Cerebral amyloid angiopathy accounts for approximately 10% of spontaneous intracerebral hemorrhage, typically in the cortex and subcortical white matter. Its contribution to primary pontine hemorrhage is not known. The present study was designed to determine if amyloid angiopathy occurs in the pons and whether primary pontine hemorrhages are associated with amyloid infiltration of nearby vessels. Two groups of patients were identified. Group A included 30 patients with proven CAA in whom special blocks of the pons were taken, group B consisted of 10 primary pontine hemorrhages in whom transverse blocks were available. A congo red stain and an A4 immunohistochemical technique were used. Only 1 patient from group A and none from group B had amyloid angiopathy in the pons. It is concluded that pontine angiopathy is rare and an exceptional cause of primary pontine hemorrhage.
Clin Neuropathol
PMID:Cerebral amyloid angiopathy and intracerebral hemorrhage with special reference to the pons. 820 29

We developed a sandwich enzyme immunoassay for determining cystatin C in serum by using commercially available antibodies. We optimized each assay step (e.g., concentrations of coating rabbit anti-human cystatin C antibodies and horseradish peroxidase-conjugated antibodies) and studied the binding kinetics of antigen and antibodies. The within-assay CV was < 5%, the between-assay CV was 8.8%, the detection limit was 0.9 microgram/L, and the assay can be performed within 2 h. Cystatin C concentrations in sera from men were significantly higher than in women (mean and SD: 2.14 +/- 0.31 vs 1.78 +/- 0.26 mg/L). We studied the cystatin C concentrations in sera of 31 outpatients with suspected kidney damages to characterize the behavior of this low-M(r) protein as a possible indicator for estimating the glomerular filtration rate. The correlation with the values obtained by a standard isotopic method involving 99mTc-diethylenetriaminopentaacetic acid was rs = -0.89. The diagnostic sensitivity of cystatin C was 88.2% of that of the standard isotope clearance method and better than those of the conventional serum indicators of reduced kidney function, beta 2-microglobulin (64.7%) and creatinine (52.9%).
Clin Chem 1993 Sep
PMID:Sandwich enzyme immunoassay of cystatin C in serum with commercially available antibodies. 837 65

We report three novel mutations of the thyroid hormone receptor beta (TR beta) gene in three unrelated Japanese patients with resistance to thyroid hormone (RTH). Patients A and B exhibited generalized resistance phenotype, while patient C displayed more pituitary-selective unresponsiveness. Direct sequencing of TR beta gene exon 10 disclosed novel point mutations in all three patients. A Phe to Ile (TTC-->ATC) substitution at codon 451, a His to Leu (CAT-->CTT) substitution at codon 435, and a His to Gln (CAT-->CAA) substitution at codon 435 were identified in patients A, B, and C, respectively. Sequencing of TR beta gene exons 5-9 as well as TR alpha gene exons 4-9 failed to detect any additional mutations. All three patients were heterozygous for respective mutations. The unaffected parents of patients A and B, having normal thyroid function, possessed no mutations of TR beta gene exon 10, indicating that the F451I and H435L mutations occurred de novo. The F451I mutation is located near the most frequent mutation site in the ligand 2 subdomain. The identical codon mutations H435L and H435Q, which lie at the extreme carboxyl-terminus of the dimerization subdomain near the 9th heptad, were found in clinically different subtypes of RTH: patient B with generalized resistance and patient C with pituitary-selective resistance, respectively. The mutations broaden the growing catalogue of the TR beta gene mutations that could cause different phenotypes, despite the defects at the same codon.
J Clin Endocrinol Metab 1995 Dec
PMID:Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance. 853 Jun 8

Human cystatin C is a low molecular weight protein involved in the control of human cysteine proteinase activity as well as microbial cysteine proteinase activity threatening the integrity of tissues. The gene for cystatin C is located on the short arm of chromosome 20, spans 6.5 kb and has three exons. To understand the mechanisms for the expression of cystatin C at the transcriptional level we mapped the 5' boundary of mRNA transcripts and studied the 5'-region of the cystatin C gene in a transient expression system with chimeric constructs utilizing various fragments of 1.1 kb of the 5'-flanking region coupled to the gene for human growth hormone. Mapping of the 5'-end of human cystatin C mRNA from placenta and seminal vesicles (low to medium versus high cystatin C expression, respectively) identified three major transcription initiation sites (positions -75, -78 and -80, A of initiation ATG as +1) and three minor sites (positions -98, -101 and -103). The relative amounts of different mRNA species were approximately the same in these two tissues. Functional analysis of the 5'-region in cultured HeLa cells revealed one region (positions -279 to -156) with a strong positive effect on transcription and comprising three identical tandemly arranged GC-rich sequences.
Scand J Clin Lab Invest 1995 Nov
PMID:The human cystatin C gene promoter: functional analysis and identification of heterogeneous mRNA. 863 84

Cystatin C, an efficient inhibitor of cysteine proteinases, is present in all investigated human extracellular fluids. Dexamethasone caused a significant and dose-dependent increase in the cystatin C secretion of cultivated HeLa cells up to a maximal increase of 80% at 10(-6) mol l-1 dexamethasone. Increased production of cystatin C was also observed at lower concentrations, suggesting that glucocorticoids might play a physiological role in the production of cystatin C. The effect of dexamethasone on the cystatin C gene expression was also studied in a transient transfection expression system using chimeric plasmid constructs of the cystatin C gene promoter (positions -2 to -1084) coupled to the structural gene for human growth hormone (hGH). In this system, a small, but statistically significant, increase in hGH secretion was also observed upon dexamethasone treatment, suggesting that the glucocorticoid-induced increase in secretion of cystatin C is due to a promoter-mediated increase in transcription of the cystatin C gene.
Scand J Clin Lab Invest 1995 Nov
PMID:Promoter-mediated, dexamethasone-induced increase in cystatin C production by HeLa cells. 863 86

Anaplastic thyroid carcinoma (ATC) is usually associated with a poor prognosis, with most patients dying within a few months. The mechanism of its carcinogenesis is unclear, and its rapid growth and spread often prevent effective surgical therapy. Thus, chemotherapy is necessary. However, ATC is often resistant to anticancer drugs. Therefore, prediction of chemosensitivity is important in selecting appropriate treatment. In this study, after the establishment of three cell lines (K119, KOA2, and IAA) from patients with ATC, we analyzed them for abnormalities in certain oncogenes (myc, ras, ret, and c-erbB2) and the p53 tumor suppressor gene. Only one of three cell lines (KOA2) had a N-ras mutation [codon 61 CAA(Gln)-->CGA(Arg)] and a p53 gene mutation [exon 6 codon 192 Caa(Gln)-->TAG(stop)]. We also investigated their in vitro drug sensitivity and compared it with clinical chemosensitivity, retrospectively. In vitro drug sensitivity was determined using an adhesive tumor cell culture system. Only the K119 cells were sensitive to adriamycin and cisplatin in vitro. The other two were resistant to them in vitro. These results paralleled the clinical responses. We also evaluated the in vitro drug sensitivity of a poorly differentiated thyroid carcinoma cell line (SMP) and papillary thyroid carcinoma cell lines (NPA). None of the five cell lines expressed the multidrug resistance gene (mdr-1). In conclusion, we established ATC cell lines that are suitable models for characterizing the nature of multidrug resistance and carcinogenesis.
J Clin Endocrinol Metab 1996 Oct
PMID:Establishment of anaplastic thyroid carcinoma cell lines useful for analysis of chemosensitivity and carcinogenesis. 885 99


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