Temat: human chromosome - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: The quantitative PCR technique resolves ambiguities concerning a small rearrangement of human chromosome 6q12-13
Autorzy:: Nowacka, J
Helszer, Z.
Walter, Z.
Plucienniczak, A.
Kaluzewski, B.
Powiązania:: https://bibliotekanauki.pl/articles/2048327.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: duplication
chromosome
human chromosome
man
rearrangement
cytogenetic diagnosis
karyotype analysis
chromosome aberration
polymerase chain reaction
inversion
Źródło:: Journal of Applied Genetics; 2001, 42, 4; 541-545
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Unidirectional orientation of twelve expressed tagged sites within 4o kb of human chromosomal region 22q13.1
Autorzy:: Pusch, C
Wang, Z.
Roe, B.
Blin, N.
Powiązania:: https://bibliotekanauki.pl/articles/2048293.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: RNA
human chromosome
chromosome
hybridization
genetic change
linear map
polymerase chain reaction
DNA
cosmid
cDNA
transcriptional orientation
Opis:: The single copy sequence D22S16 from human chromosomal region 22q13.1 that carries a putative conserved gene, was used to probe a chromosome 22-specific cosmid library. Genomic sequencing of one positive, 40 kb long cosmid (C1155) revealed a hereto unmapped gene (a subunit of DNA-dependent RNA polymerase II, POLR2F), a SOX9-related sequence and 12 expressed sequence tags. Although not parts of one consecutive gene, all 12 ESTs and, in addition, the polymerase gene are oriented in the same transcriptional direction within the genomic sequence represented by cosmid C1155.
Źródło:: Journal of Applied Genetics; 1998, 39, 2; 199-204
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: The rapid interphase chromosome assay (RICA) implementation : comparison with other PCC methods
Autorzy:: Sommer, S.
Buraczewska, I.
Sikorska, K.
Bartłomiejczyk, T.
Szumiel, I.
Kruszewski, M.
Powiązania:: https://bibliotekanauki.pl/articles/147263.pdf
Data publikacji:: 2015
Wydawca:: Instytut Chemii i Techniki Jądrowej
Tematy:: biodosimetry
ionizing radiation
premature chromosome condensation (PCC)
human lymphocytes
Opis:: A report is presented on the advantages of the rapid interphase chromosome assay (RICA) and the difficulties that may be met while implementing this method for application in biological dosimetry. The RICA test can be applied on unstimulated human lymphocytes; this is an advantage in comparison with the dicentric chromosomes or micronucleus tests. In the former two tests, stimulated lymphocytes are examined and hence, 48 h more are needed to obtain cells traversing the cell cycle. Due to the use of unstimulated nondividing cells, higher numbers of cells are available for RICA analysis than for dicentric chromosomes or micronuclei tests. Moreover, the method can be applied after exposure to ionizing radiation doses in excess of 5 Gy. Such doses cause a signifi cant cell cycle delay or result in the loss of G2 phase and mitotic cells because of apoptosis. Therefore, the traditional biodosimetry based on the evaluation of the incidence of damage to chromosomes is very difficult to carry out. This is due to the lack of an adequate number of mitotic cells for analysis. RICA is free of this disadvantage. An automatic microscope can be used to retrieve cell images; automatic image analysis can also be used.
Źródło:: Nukleonika; 2015, 60, No. 4, part 2; 933-941
0029-5922
1508-5791
Pojawia się w:: Nukleonika
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

Tytuł:: A familial X-Y translocation: cytogenetic and molecular study
Autorzy:: Kusz, K
Wojda, A.
Wisniewska, M.
Latos-Bielenska, A.
Jaruzelska, J.
Powiązania:: https://bibliotekanauki.pl/articles/2041975.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: chromosome
human genetics
hirsutism
molecular analysis
X-Y translocation
Źródło:: Journal of Applied Genetics; 2001, 42, 2; 237-240
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 5.

Tytuł:: Can chromatin conformation technologies bring light into human molecular pathology?
Autorzy:: Kubiak, Marta
Lewandowska, Marzena
Powiązania:: https://bibliotekanauki.pl/articles/1038988.pdf
Data publikacji:: 2015
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: chromosome conformation capture
human molecular pathology
chromatin
chromatin looping
genome organization
Opis:: Regulation of gene expression in eukaryotes involves many complex processes, in which chromatin structure plays an important role. In addition to the epigenetic effects, such as DNA methylation and phosphorylation or histone modifications, gene expression is also controlled by the spatial organization of chromatin. For example, distant regulatory elements (enhancers, insulators) may come into direct physical interaction with target genes or other regulatory elements located in genomic regions of up to several hundred kilobases in size. Such long-range interactions result in the formation of chromatin loops. In the last several years, there has been a rapid increase in our knowledge of the spatial organization of chromatin in the nucleus through the chromosome conformation capture (3C) technology. Here we review and compare the original 3C and 3C-based methods including chromosome conformation capture-on-chip (4C), chromosome conformation capture carbon copy (5C), hi-resolution chromosome confomation capture (HiC). In this article, we discuss different aspects of how the nuclear organization of chromatin is associated with gene expression regulation and how this knowledge is useful in translational medicine and clinical applications. We demonstrate that the knowledge of the chromatin 3D organization may help understand the mechanisms of gene expression regulation of genes involved in the development of human diseases, such as CFTR (responsible for cystic fibrosis) or IGFBP3 (associated with breast cancer pathogenesis). Additionally, 3C-derivative methods have been also useful in the diagnosis of some leukemia subtypes.
Źródło:: Acta Biochimica Polonica; 2015, 62, 3; 483-489
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 6.

Tytuł:: Influence of cysteine on mechlorethamine - induced chromosomal aberrations in cultured human lymphocytes
Autorzy:: Blaszczyk, A
Powiązania:: https://bibliotekanauki.pl/articles/2048200.pdf
Data publikacji:: 1995
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: cysteine
lymphocyte
human lymphocyte
chromosome aberration
in vitro
mechlorethamine
mutagenicity test
Opis:: The aim of the present paper was to find out by in vitro chromosomal aberration test using human lymphocytes whether cysteine has anticlastogenic properties towards a well-known mutagen - mechlorethamine. The lymphocytes tested were obtained from three healthy donors. Two doses of cysteine (1.0 and 2.0 μg/ml) and three doses of mechlorethamine (0.1,0.2 and 0.3 μg m⁻¹) were tested. It was found that cysteine had anticlastogenic properties and that it reduced the number of metaphases with chromosomal aberrations induced by mechlorethamine.
Źródło:: Journal of Applied Genetics; 1995, 36, 4; 389-393
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 7.

Tytuł:: Analysis of chromosome aberrations, sister chromatid exchanges [SCE] and cell division kinetics in human lymphocytes exposed in vitro to new monophosphates of pyrimidine acyclonucleosides
Autorzy:: Ferenc, T
Rutkowski, M.
Bratkowska, W.
Hubner, H.
Draminski, M.
Powiązania:: https://bibliotekanauki.pl/articles/2044452.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: statistical analysis
chromatid gap
chromosome number
enzyme activity
chromosome aberration
in vitro
chromosome gap
pyrimidine
phosphorylase
acyclonucleoside monophosphate
human lymphocyte
sister chromatid exchange
cell division
Opis:: Five newly synthesised monophosphates of two pyrimidine acyclonucleoside series, namely 1-N-[(2’-hydroxy)ethoxymethyl] and l-N-[(l’,3’-dihydroxy)- 2’-propoxymethyl] derivatives of 5- and 5,6-alkylated uracils were tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). Metaphase plates were obtained via microculture of human lymphocytes from heparinized peripheral blood. The compounds were tested in doses: 10, 20, 40, 80 and 150 µg per mL of culture. The tested compounds induced mainly chromatid gaps, less frequently chromosome gaps. A low number of mitoses with chromatid and chromosome breaks, acentric fragments, dicentric chromosomes and exchange figures were also observed. The tested compounds in doses: 40, 80 and 150 µg per mL, doubled or tripled the percentage of cells with chromatid gaps and chromosome gaps as compared to the control. The percentage o cells with aberrations (excluding gaps) induced by the tested compounds in all doses did not exceed 2%. The tested compounds induced a higher number of SCE per cell but less than double frequency as compared to the control. SCE frequencies and replication index (RI) values varied depending on the examined compounds. For the highest dose of the tested compounds (150 µg per mL) a significant decrease in RI values was observed for l-N-[(2’-hydroxy)ethoxymethyl]-5,6-tetramethyleneuracil monophosphate and for l-N-[(2’-hydroxy)ethoxymethyl]-5,6-dimethyluracil monophosphate. So far, the results have indicated potential clastogenicity of all the tested compounds except acycloguanosine monophosphate.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 113-127
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 8.

Tytuł:: Effects of acetylsalicylic acid and a new pyrazine derivative PD-101 on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes
Autorzy:: Wozniak, A
Limon, J.
Petrusewicz, J.
Kaliszan, R.
Powiązania:: https://bibliotekanauki.pl/articles/2044238.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: pyrazine
cell cycle
human lymphocyte
cytogenetic analysis
sister chromatid exchange
kinetics
chromosome aberration
in vitro
acetylsalicylic acid
Opis:: Acetylsalicylic acid (ASA) and α-2-pyrazylidene-α-cyano N-butyl acetamide (PD-101), a new antiaggregatory pyrazine derivative were tested for their genotoxicity in human lymphocytes in vitro using the sister chromatid exchange (SCE) technique. Both compounds were found to be inactive in inducing SCE in concentration from 1 µM up to 1000 µM. The agents displayed inhibitory effect on cell kinetics.
Źródło:: Journal of Applied Genetics; 1998, 39, 3; 281-287
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 9.

Tytuł:: Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:: Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:: Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 10.

Tytuł:: Association of chosen microsatellite markers on chromosomes 10, 11p and 14q with IDDM susceptibility in the population of midwestern Poland
Autorzy:: Jungerman, M
Fichna, P
Powiązania:: https://bibliotekanauki.pl/articles/2047273.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: microsatellite marker
human disease
chromosome
statistical analysis
Polska
susceptibility
insulin-dependent diabetes mellitus
health control
polymerase chain reaction
Wielkopolska region
diabetic child
population
Opis:: In search for new markers of insulin-dependent diabetes (IDDM) susceptibility we studied the CATT tetranucleotide repeat in intron 1 of tyrosine hydroxylase (TH) gene on chromosome lip, the CA repeat at T-cell receptor a chain (TCRA) locus on chromosome 14q and two CA repeats at D10S211 and D10S213 loci in the chromosome 10 region containing glutamic acid decarboxylase (GAD2) gene. Alleles at these microsatellite loci were identified in a population of diabetic children and unrelated healthy controls originating from Wielkopolska, a midwestern region of Poland. We found significant association of certain alleles at TH, TCRA and D10S211 loci with diabetes in the population under study. On the contrary, none of the alleles at D10S213 locus was associated with the disease. Our findings indicate that typing of microsatellite markers may represent useful additional tool for identifying individuals at high risk of developing IDDM. Regarding loci on chromosome 10 our data and data published by other authors may suggest the extistence of two separate regions of association with IDDM susceptibility on this chromosome.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 217-228
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 11.

Tytuł:: Searching for in vitro biomarkers of susceptibility to prostate and cervical cancers by analysis of chromosomal instability, gamma-H2AX foci, polymorphisms in DNA repair genes and apoptosis
Autorzy:: Wegierek-Ciuk, A.
Arabski, M.
Kedzierawski, P.
Florek, A.
Solowiej, D.
Gozdz, S.
Lisowska, H.
Kowalik, A.
Kowalska, M.
Wojcik, A.
Polanska, J.
Lankoff, A.
Powiązania:: https://bibliotekanauki.pl/articles/3629.pdf
Data publikacji:: 2015
Wydawca:: Instytut Medycyny Wsi
Tematy:: in vitro biomarker
susceptibility
prostate
cervical cancer
cancer
patient
human disease
lymphocyte
man
ionizing radiation
chromosome instability
gamma-H2AX biomarker
polymorphism
DNA repair gene
apoptosis
Opis:: Introduction and objective. According to the cancer epidemiology databases, cancer is the second leading cause of death in developing countries. Moreover, the WHO predicts a continuing increase in the incidence of cancer, extending this trend well into the next several decades. Hence, it seems obvious that the prediction of cancer susceptibility and early diagnosis is an important goal for modern biomedical sciences. The aim of this study is to clarify the value of chromosomal damage, capacity for the repair of double-strand breaks (DSBs), polymorphisms in DNA repair genes, and apoptosis as prognostic markers for prostate and cervical cancer. Materials and methods. 30 prostate cancer patients and 30 cervical cancer patients were enrolled into the study. In addition, 30 healthy female donors and 30 healthy male donors served as controls. The following endpoints were investigated: frequency of micronuclei, gamma-H2AX fluorescence, XRCC1 194C>T, XRCC1 399G>A, XRCC3 IVS5–14 A>G, OGG1 326 Ser>Cys polymorphisms and apoptosis. Results. Among all tested factors, only the homozygous variant (Arg/Arg) in XRCC1 (399 Arg/Gln) was strongly associated with prostate cancer risk, and only a low apoptotic response was connected with cervical cancer risk. The presented study confirmed a positive association between the frequency of MN and increased prostate and cervical cancer risk. However, such a biomarker is not cancer specific. In addition, the information gained by analyzing the gamma-H2AX fluorescence, as well apoptosis, had no value for predicting the risk of prostate and cervical cancers. Conclusions. The final conclusion of the study is that cancer susceptibility is a complex phenotype not readily detectable in relatively small studies by functional assays or analysis of SNP in few, selected genes.
Źródło:: Journal of Pre-Clinical and Clinical Research; 2015, 09, 2
1898-2395
Pojawia się w:: Journal of Pre-Clinical and Clinical Research
Dostawca treści:: Biblioteka Nauki

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