Abstract：
:Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage) was shown to correlete with severity of CMT course (gene dosage effect). In this study we hypothesized that single nucleotide polymorphisms (SNPs) located within the 5' regulatory sequence of PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulatory sequence in a group of 45 CMT1A/HNPP patients harboring the PMP22 duplication (37) /deletion (8). We have identified five SNPs in the regulatory sequence of the PMP22 gene. Three of them i.e. -819C>T, -4785G>T, -4800C>T were detected both in the patients and in the control group. Thus, their pathogenic role in the regulation of the expression of the PMP22 gene seems not to be significant. Two SNPs i.e. -4210T>C and -4759T>A were found only in the CMT patients. Their role in the regulation of the PMP22 gene expression can not be excluded. Additionally we have detected the Thr118Met variant in exon 4 of the PMP22 gene, which was previously reported by other authors, in one patient. We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect.
journal_name
Acta Biochim Poljournal_title
Acta biochimica Polonicaauthors
Sinkiewicz-Darol E,Kabzińska D,Moszyńska I,Kochański Asubject
Has Abstractpub_date
2010-01-01 00:00:00pages
373-7issue
3eissn
0001-527Xissn
1734-154Xpii
20101999journal_volume
57pub_type
杂志文章abstract：:Photoreactive gangliosides of high specific radioactivity may prove useful for studies on glycosphingolipid functions. We prepared 4-azidosalicylic acid (ASA) acylated derivatives of GM3, GD3, GM1, and FucGM1 gangliosides (gangliosides-ASA). Gangliosides-ASA were characterized by their TLC mobility, UV spectra, carboh...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:Epidemiological studies have revealed a strong correlation between high intake of fruit and vegetables and low incidence of certain cancers. Micronutrients present in these foods are thought to decrease free radical attack on DNA and hence protect against mutations that cause cancer, but the fine details of the causal...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:A number of antiviral lectins, small proteins that bind carbohydrates found on viral envelopes, are currently in pre-clinical trials as potential drugs for prevention of transmission of human immunodeficiency virus (HIV) and other enveloped viruses, such as the Ebola virus and the coronavirus responsible for severe ac...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2006-01-01 00:00:00
abstract：:Cirrhosis leads to an inability of the liver to perform its biochemical functions. It can also lead to hepatocellular carcinoma in which, as we showed lately, arginase isoenzyme pattern changes. The present work presents our results on arginase isoenzymes and their possible role in liver cirrhosis. The study was perfo...
journal_title：Acta biochimica Polonica
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doi：
更新日期：2009-01-01 00:00:00
abstract：:Natural and synthetic derivatives of benzo-γ-pyrones (i.e. flavones, chromones, and coumarins) and their synthetic analogues possess a wide range of biological properties in vitro and in vivo. In this paper we investigated the influence of two hydrazone compounds of chromones, 3-{[(2-dimethoxytiophosphoryl)-2-methylhy...
journal_title：Acta biochimica Polonica
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doi：
更新日期：2013-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：035002549
更新日期：2003-01-01 00:00:00
abstract：:The early molecular events of glucocorticoid-induced apoptosis have been investigated by studying glucocorticoid receptor levels, as well as binding activities to GRE and AP-1 sequences, using nuclear extracts from dexamethasone (Dex)-treated rat thymocytes. When the time-course of glucocorticoid-receptor complexes in...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
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journal_title：Acta biochimica Polonica
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doi：
更新日期：2001-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：045101199
更新日期：2004-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2016_1282
更新日期：2016-01-01 00:00:00
abstract：:The effect of vitamin D3 on the activity of different forms of alkaline phosphatase as well as on the ability of their subunits to form phosphorylated intermediates in the presence of [gamma-32P]ATP was studied. In experiments with rats fed a diet enriched in vitamin D3 phosphatase F3 activity was doubled and the radi...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：INTRODUCTION:Hepatitis C virus (HCV) infection is a global health problem which can lead to liver cirrhosis or hepatocellular carcinoma in one-fifth of chronically infected patients. MATERIALS AND METHODS:The study group consisted of 123 patients: 90 with HCV mono- and 33 with HIV/HCV co-infection, who were treated wi...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2012-01-01 00:00:00
abstract：:The capabilities of porcine adrenal cortex mitochondria to oxidize glycerol-3-phosphate (GP) were studied. In comparison with bovine adrenal cortex mitochondria, porcine mitochondria oxidized GP about three times more actively (18.9 vs 6.1 nmol O(2)/min per mg protein in the presence of ADP) and the activity of mitoch...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：0451041075
更新日期：2004-01-01 00:00:00
abstract：:The aim of this study was to compare the content of carotenoids in seventeen cultivars of carrots grown in Poland. Conventional orange cultivars with rarely grown were compared: white, yellow and purple with yellow core cultivars. To determine the content of carotenoids, extracts from lyophilized carrot roots were pre...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2012-01-01 00:00:00
abstract：:Fibrin split product D-dimer (DD) is most probably involved in the development of vascular disorders. At 1.5 microM concentration DD inhibited the incorporation of D-[1-(3)H]glucosamine hydrochloride and [2-(14)C]acetate x Na into pericellular heparan sulphate (HS) of rabbit coronary endothelial cells without affectin...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：035001279
更新日期：2003-01-01 00:00:00
abstract：:Efficient synthesis of two small eukaryotic polypeptides of human and plant origin was carried out using a novel expression/secretion yeast vector, pYET. The yield was optimized in respect of the yeast strain, expression cassette construction, promoter regulation and culture conditions. Both cloned genes code for biot...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2005-11-06 00:00:00
abstract：:X-ray crystallography provides important insights into structure-function relationship in biomolecules. However, protein crystals are usually hard to obtain which hinders our understanding of multiple important processes. Crystallization requires large amount of protein sample, whereas recombinant proteins are often u...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2015_1026
更新日期：2015-01-01 00:00:00
abstract：:Aims. This study aimed to investigate CHRNA3 (rs8040868) and PHACTR2 (rs9390123) single-nucleotide polymorphisms (SNPs) for association with non-small-cell lung cancer (NSCLC) risk in a Chinese population, and whether the environment affects the genetic polymorphisms. Methods. This case and control study included 500 ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:The coexistence of cystic fibrosis (CF) and celiac disease (CD) has been reported. To our knowledge there is no study directly comparing the incidence of CD in CF patients to that in the general population at the same time. There is no published data on genetic predisposition to CD in CF patients either. The...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2010-01-01 00:00:00
abstract：:Several mammalian enzymes are anchored to the outer surface of the plasma membrane by a covalently attached glycosylphosphatidylinositol (GPI) structure. These include acetylcholinesterase, alkaline phosphatase (AP) and 5'-nucleotidase among other enzymes. Recently, it has been reported that these membrane enzymes can...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2007-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：035002461
更新日期：2003-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:Selectivity of amidination using ornithine as model amino acid was investigated in detail. The results obtained were taken advantage of for studying the reactions with other polyfunctional amino acids: beta-tyrosine, isoserine, 2,3-diaminopropionic acid, 2,6-diamino-7-hydroxyazelaic acid and with the pentapeptide amid...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:In situ PCR and in situ reverse transcription PCR (RT-PCR) were applied to discriminate between latent and productive infection of human cytomegalovirus (HCMV) in leukocytes. We investigated 28 samples, in which viral pp65 antigen was detected only in the cytoplasm of leukocytes. Additionally we assayed 12 specimens l...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：BACKGROUND:Tunneled catheters are becoming increasingly used as a permanent dialysis access. Easy way of insertion and good long-term patency make them competitive to fistulas in some groups of patients. METHODS:Late complications and survival of 180 tunneled catheters inserted from June 2010 to December 2013 in 171 u...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2015_1111
更新日期：2016-01-01 00:00:00
abstract：:Soluble alkaline phosphatase from Thiobacillus thioparus cells was purified about 230-fold. The enzyme had a mol. wt. of 50 000 daltons, optimum pH at 10.5, and was heat-resistant in the presence of diethanolamine. Polyacrylamide-gel electrophoresis demonstrated contamination of the preparation with inactive proteins ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：10.18388/abp.2016_1362
更新日期：2016-01-01 00:00:00
abstract：:In vitro addition of 16,16'-dimethyl prostaglandin E2 to Golgi-rich membrane fraction in final concentration of 0.1 microgram/1 mg of protein increased generally the activity of galactosyltransferase in comparison with control. The percentage of phospholipids in the whole fraction was similar in both investigated grou...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
