Abstract:
:We examined the molecular basis of factor IX deficiency in 53 unrelated Polish patients with hemophilia B. Heteroduplex analysis and direct sequencing of polymerase chain reaction (PCR) products were applied to identify the gene defect. Forty-three different point mutations were detected in the factor IX gene of 47 patients. There were 29 missense mutations, 9 nonsense mutations, 4 splice site mutations and 1 point mutation in the promoter region. Twelve mutations were novel. The results of this study emphasize a very high degree of heterogeneity of hemophilia B.
journal_name
Acta Biochim Poljournal_title
Acta biochimica Polonicaauthors
Wulff K,Bykowska K,Lopaciuk S,Herrmann FHsubject
Has Abstractpub_date
1999-01-01 00:00:00pages
721-6issue
3eissn
0001-527Xissn
1734-154Xjournal_volume
46pub_type
杂志文章abstract::The aim of this study was to analyse the correlation between HPV16 E6 variants and the physical status of viral genome (integrated, mixed, episomal) among patients with cervical cancer (n=40) and low-grade squamous intraepithelial lesions - LSIL (n=40). The study was performed on 80 HPV16 positive samples. HPV16 E6 va...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2016_1364
更新日期:2017-01-01 00:00:00
abstract::Pharmaceutical substances and their residues are increasingly present in the environment. Therefore, attempts at their removal are made by using different processes. Increasingly important among these processes are those modeled on natural phenomena which occur in wetland ecosystems, called technical scale constructed...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2015_1165
更新日期:2015-01-01 00:00:00
abstract::Two non-conventional analogues of ATP, 3'-deoxyadenosine-2'-triphosphate (3'-d-2'-ATP) and 2'-deoxyadenosine-3'-triphosphate (2'-d-3'-ATP), the syntheses of which are described, were examined as potential phosphate donors for the nucleoside kinases: 2'-deoxycytidine kinase (dCK), cytosolic thymidine kinase (TK1) and m...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract::Geranylgeranyl diphosphate (GGPP) synthase was purified to homogeneity from bovine brain in a one-step affinity column procedure. For the construction of the affinity column, a farnesyl diphosphate (FPP) analog, O-(6-amino-1-hexyl)-P-farnesylmethyl phosphonophosphate, was synthesized and linked to the spacer of the ma...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::This article reviews the evidence for the danger model in the context of immune response to tumors and the insufficiency of the immune system to eliminate tumor growth. Despite their potential immunogenicity tumors do not induce significant immune responses which could destroy malignant cells. According to the danger ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章,评审
doi:
更新日期:2002-01-01 00:00:00
abstract::Regulation of proteolytic enzyme activity is an essential requirement for cells and tissues because proteolysis at a wrong time and location may be lethal. Proteases are synthesized as inactive or less active precursor molecules in order to prevent such inappropriate proteolysis. They are activated by limited intra- o...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章,评审
doi:035003691
更新日期:2003-01-01 00:00:00
abstract::In most cells, the major intracellular redox buffer is glutathione (GSH) and its disulfide-oxidized (GSSG) form. The GSH/GSSG system maintains the intracellular redox balance and the essential thiol status of proteins by thiol disulfide exchange. Topoisomerases are thiol proteins and are a target of thiol-reactive sub...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2011-01-01 00:00:00
abstract::The fucosyltransferase NodZ is involved in the biosynthesis of the nodulation factor in nitrogen-fixing symbiotic bacteria. It catalyzes alpha1,6 transfer of l-fucose from GDP-fucose to the reducing residue of the synthesized Nod oligosaccharide. We present the structure of the NodZ protein from Bradyrhizobium express...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract::Fucoxanthin, diadinoxanthin and diatoxanthin are carotenoids found in brown algae and most other heterokonts. These pigments are involved in photosynthetic and photoprotective reactions, and they have many potential health benefits. They can be extracted from diatom Phaeodactylum tricornutum by sonication, extraction ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2016_1369
更新日期:2016-01-01 00:00:00
abstract::Transcriptionally active and inactive chromatin fractions were isolated from Physarum polycephalum after depolymerization of chromatin with DNAase II or micrococcal nuclease, followed by fractionation in 5 mM-MgCl2. The active fraction of chromatin comprised up to 21% of nuclear DNA and was enriched 22-fold in the lab...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::1. In frog liver, tyrosine aminotransferase is located mainly in cytoplasm. The enzyme is an anionic protein of mol. wt. 115 000 daltons, specific toward 2-oxoglutarate. The enzyme separates on ion-exchange chromatography into two active forms. 2. Administration of triiodotyronine in vivo induces the activity of the e...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1975-01-01 00:00:00
abstract::We assessed a relationship between the level of 8-oxodG in leukocyte DNA measured with the high performance liquid chromatography with electrochemical detection (HPLC/EC) technique and urinary excretion of the modified nucleoside/base analysed with a recently developed methodology involving HPLC prepurification follow...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:035002549
更新日期:2003-01-01 00:00:00
abstract::Fluorescent tri-cyclic purine analogs, derivatives of isoguanine and adenine, were examined as potential substrates of purine-nucleoside phosphorylase. It was found previously that etheno- derivatives of both compounds are ribosylated in phosphate-free media, but ribosylation places in some instances differ from purin...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2019_2885
更新日期:2019-12-05 00:00:00
abstract::In plant cells, phospholipids are not only membrane components but also act as second messengers interacting with various proteins and regulating diverse cellular processes, including stress signal transduction. Here, we report studies on the effects of various phospholipids on the activity and expression of maize wou...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2011-01-01 00:00:00
abstract::1. Gluconeogenesis from glutamine, fumarate, pyruvate, glutamine plus fumarate, and glutamine plus pyruvate, was generally higher at pH 7.1 than at pH 7.4 and 7.7, whereas ammoniagenesis did not depend on the pH of the medium. 2. The intermediates of the Krebs cycle decreased ammonia formation from glutamine, raising ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Research and practice are focusing on development, validation and harmonization of technologies and methodologies to ensure complete traceability process throughout the food chain. The main goals are: scale-up, implementation and validation of methods in whole food chains, assurance of authenticity, validity of labell...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
abstract::We have studied the ability of yeast DNA polymerases to carry out repair of lesions caused by UV irradiation in Saccharomyces cerevisiae. By the analysis of postirradiation relative molecular mass changes in cellular DNA of different DNA polymerases mutant strains, it was established that mutations in DNA polymerases ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::The silk protein synthesis in silk glands of Galleria mellonella is preceded by the increase of total RNA content. The levels of the main RNA classes: 28S and 18S rRNA, tRNA as well as poly(A) + RNA change proportionally to the total RNA pool of glands. The fibroin-like silk protein of molecular weight of about 240 00...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract::Initiation of replication of lambda DNA requires assembly of the proper nucleoprotein complex consisting of the lambda origin of replication-lambda O-lambda P-dnaB proteins. The dnaJ, dnaK and grpE heat shock proteins destabilize the lambda P-dnaB interaction in this complex permitting dnaB helicase to unwind lambda D...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract::The supply of substrates to the respiratory chain as well as of other metabolites (e.g. ATP) into inner compartments of mitochondria is crucial to preprotein import into these organelles. Transport of the compounds across the outer mitochondrial membrane is enabled by mitochondrial porin, also known as the voltage-dep...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::The myosin heavy chain (MHC) was studied by biochemical methods in the slow-twitch (soleus) and two fast-twitch leg muscles of the triiodothyronine treated (hyperthyroid), thyroidectomized (hypothyroid) and euthyroid (control) rats. The changes in the contents of individual MHC isoforms(MHC-1, MHC-2A, MHC-2B and MHC-2...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::The relationships between bone turnover, the growth hormone/insulin-like growth factor-1 (GH/IGF-1) axis and vitamin D are complex, but still not fully explained. The GH/IGF-1 axis and vitamin D can mutually modulate each other's metabolism and influence the activation of cell proliferation, maturation, and mineraliza...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2017_2541
更新日期:2018-01-01 00:00:00
abstract::1. The activity of trypsin inhibitors in lung and pancreas increased with age of the animals. 2. In foetal lung the activity of the basic Kunitz-type inhibitor was 1% that, and in calf lung 5-30% that, found in adult animals. 3. In foetal pancreas the basic Kunitz-type inhibitor was not detected, and in calf pancreas ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract::This study examined the antiproliferative effects of β-escin (E) in cancer cells. The study showed that E inhibited cancer cells growth in a dose-dependent manner. The flow cytometric analysis revealed an escin-induced increase in the sub-G1 DNA content, which is considered to be a marker of apoptosis. Apoptosis was a...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2015_1013
更新日期:2016-01-01 00:00:00
abstract::Sea urchin gonad (roe) is a highly valued food in Japan and North America. Gonad price is strongly influenced by quality, with appearance, especially colour being a major determinant. Previous attempts to extract a carotenoid profile from the New Zealand sea urchin species Evechinus chloroticus have been challenging d...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2012-01-01 00:00:00
abstract::Spectroscopic, photochemical and biological properties of indocyanine green (ICG) are presented. Light over 800 nm is effectively absorbed by ICG. This property as well as photochemical behaviour of ICG make it a very suitable dye for photodynamic treatment of melanoma cells. Cytotoxicity of ICG itself and the effect ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::Mushroom foraging is very popular in some regions of the world. Sometimes toxic and edible mushrooms are mistaken by mushroom collectors, leading to serious human poisoning. The group of mushrooms highly dangerous for human health includes Amanita phalloides. This mushroom produces a toxic octapeptide called α-amaniti...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2017_1615
更新日期:2017-01-01 00:00:00
abstract::Calretinin (CR) is a neuronal EF-hand protein previously characterized as a calcium (micromolar affinity) binding protein. CR-containing neurons are spared in some neurodegenerative diseases, although it is as yet unconfirmed how CR plays an active role in this protection. Higher levels of some metal cations (e.g. cop...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::The root system of rice is influenced by various environmental factors. However, how the root system responds to abiotic stress has not yet been fully understood. A zinc finger protein gene, OsZFP350, is exclusively expressed in the rice root, but its biological function needs to be investigated. Expression of OsZFP35...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:10.18388/abp.2018_2765
更新日期:2019-05-24 00:00:00
abstract::1. The interaction of copper(II) with inosine, 2'-deoxyinosine, 1-methylinosine, 7-deazainosine, 6-methoxypurine riboside and IMP was examined. 2. Copper binds with the purine base of the nucleosides, and in IMP also with the phosphate group. Non interaction with ribose hydroxyl groups was observed. 3. In non-aqueous ...
journal_title:Acta biochimica Polonica
pub_type: 杂志文章
doi:
更新日期:1978-01-01 00:00:00