Temat: SNPs - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Role of genetic aspect in pathogenesis of atopic dermatitis
Autorzy:: Wesserlking, Martyna
Powiązania:: https://bibliotekanauki.pl/articles/764862.pdf
Data publikacji:: 2013
Wydawca:: Uniwersytet Łódzki. Wydawnictwo Uniwersytetu Łódzkiego
Tematy:: allergic disease
SNPs
eczema
cornified envelope
interleukins
Opis:: The pathogenesis of atopic dermatitis (AD) is a very complicated process that involves an intricate array of molecules. Nowadays it is generally accepted that cytokines play an important role in the progression of the clinical presentation of atopic dermatitis. However, emerging data point to the possible involvement of cornified envelope proteins in the development of skin barrier dysfunction and illness. Unfortunately, our knowledge on relation of particular genotype to progression of AD is very limited. Therefore, intensive studies are needed to increase our understanding of genetic background of atopic dermatitis. Hopefully the future research will identify new factors that help us to determine the additional risk for certain patients with atopic dermatitis.
Źródło:: Acta Universitatis Lodziensis. Folia Biologica et Oecologica; 2013, 9; 1-8
1730-2366
2083-8484
Pojawia się w:: Acta Universitatis Lodziensis. Folia Biologica et Oecologica
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay
Autorzy:: Stopińska, Katarzyna
Grzybowski, Tomasz
Malyarchuk, Boris
Derenko, Miroslava
Miścicka-Śliwka, Danuta
Powiązania:: https://bibliotekanauki.pl/articles/1041222.pdf
Data publikacji:: 2006
Wydawca:: Polskie Towarzystwo Biochemiczne
Tematy:: real-time PCR
polymerase γ
progressive external ophthalmoplegia
single nucleotide polymorphisms (SNPs)
Opis:: Many well-defined mutations in the gene for the catalytic subunit of polymerase γ (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagnostics of POLG1.
Źródło:: Acta Biochimica Polonica; 2006, 53, 3; 591-595
0001-527X
Pojawia się w:: Acta Biochimica Polonica
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Event-related potentials (ERP) and SGIP1 gene polymorphisms in alcoholics: relation to family history of alcoholism and drug usage
Autorzy:: Chwedorowicz, Roman
Raszewski, Grzegorz
Kapka-Skrzypczak, Lucyna
Sawicki, Krzysztof
Studziński, Tadeusz
Powiązania:: https://bibliotekanauki.pl/articles/991182.pdf
Data publikacji:: 2016
Wydawca:: Instytut Medycyny Wsi
Tematy:: alcohol dependence
event-related potentials
resting theta eeg power
sgip1 snps
Opis:: Objective. The electrophysiological characteristics may serve as valuable biomarkers for the genetic vulnerability underlying alcoholism. The purpose of this study was to evaluate the potential associations between single nucleotide polymorphisms (SNPs) located in the SGIP1 gene and the theta ERP quantitative traits. Method. The theta band (4–7 Hz) visual ERP occurring in the P300 response in the resting EEG were examined to explore the electrophysiological effects of alcohol on the brain in five regions: frontal, central, parietal, temporal and occipital in patients with alcohol addiction. In addition, we tested the potential associations between single nucleotide polymorphisms (SNPs) located in the SGIP1 gene and ERP quantitative traits. Results. We found that the amplitude of the auditory P300 response differed considerably among groups of alcoholics in the frontal, central and temporal areas of the brain and it was lower in the studied brain regions in alcoholics in comparison to non-alcoholics. However, among subjects in the young adult group (GR-1) there was no statistical difference in amplitude of P300 response with control subjects in all studied brain regions in comparison with non-alcoholics. Moreover, we revealed that SNP rs10889635 had a significant effect on P300 amplitude in the central and temporal regions. The reduced P300 amplitude was in AA carriers in comparison to both carriers of GG and GA alleles. Conclusion. The present study demonstrated a possible association of target P300 evoked theta and of alcohol dependence with SNPs from the gene SGIP1 in the region of rs10889635, but further studies are required.
Źródło:: Annals of Agricultural and Environmental Medicine; 2016, 23, 4
1232-1966
Pojawia się w:: Annals of Agricultural and Environmental Medicine
Dostawca treści:: Biblioteka Nauki

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