Wyniki wyszukiwania

1

Interleukin‑1 genotype in periodontitis

100%

Brodzikowska A., Gorska R., Kowalski J.

Archivum Immunologiae et Therapiae Experimentalis

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2019

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tom 67

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nr 6

2

Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

100%

Salimullah M., Hamano K., Tachibana M., Inoue K., Nishigaki K.

Cellular and Molecular Biology Letters

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2005

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tom 10

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nr 2

3

First molecular characterization of Trichostrongylus colubriformis infection in rural patients from Chile

86%

Hidalgo A., Gacitua P., Melo A., Oberg C., Herrera C., Fonseca-Salamanca F.

Acta Parasitologica

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2020

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tom 65

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nr 3

4

Association between PNPLA3[G]/I148M variant, steatosis and fibrosis stage in hepatitis C virus - genetics matters

86%

Crisan D., Grigorescu M., Crisan N., Craciun R., Lupsor M., Radu C., Grigorescu M. D., Suciu A., Epure F., Avram L., Leach N.

Journal of Physiology and Pharmacology

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2019

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tom 70

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nr 4

5

Placental vascular endothelial growth factor expression in pregnancies complicated by type 1 diabetes

86%

Iciek R., Wender-Ozegowska E., Mikolajczak P., Seremak-Mrozikiewicz A., Zawiejska A., Mrozikiewicz P. M., Drews K., Brazert J.

Journal of Physiology and Pharmacology

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2014

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tom 65

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nr 4

6

SNP-minisequencing as an excellent tool for analysing degraded DNA recovered from archival tissues

86%

Babol-Pokora K., Berent J.

Acta Biochimica Polonica

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2008

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tom 55

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nr 4

815-819

SNP-minisequencing has become common in forensic genetics, especially for analysing degraded or low copy number DNA (LCN DNA). The aim of this study was to examine the usefulness of five SNP (single nucleotide polymorphism) markers for analyzing degraded and LCN DNA recovered from archival samples. DNA extractions of eight formalin-fixed paraffin-embedded (FFPE) tissues were performed and DNA fragments were amplified in one multiplex PCR (polymerase chain reaction). SNPs were identified in a minisequencing reaction and a gel electrophoresis in ABI Prism®377 Sequencer. The research confirmed the usefulness of SNP-minisequencing for analysing FFPE tissues.

7

The evaluation of bovine SNP50 beadchip assay performance in Polish red cattle breed

86%

Gurgul A., Zukowski K., Pawlina K., Zabek T., Semik E., Bugno-Poniewierska M.

Folia Biologica

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2013

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tom 61

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nr 3-4

8

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A comprehensive in silico prediction of the most deleterious missense variants in the bovine LEP gene

86%

Al-Shuhaib M. B. S.

BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology

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2019

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tom 100

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nr 4

9

Detection of SNPs based on DNA specific-locus amplified fragment sequencing in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook)

86%

Su Y., Hu D., Zheng H.

Dendrobiology

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2016

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tom 76

Compared to angiosperms, conifers represent more complex genomes with larger giga-genome size. To detect large-scale single nucleotide polymorphisms (SNPs), whole genome sequencing of a conifer population is still unaffordable. In this work, we report the use of DNA specific-locus amplified fragment sequencing (SLAF-seq) for large-scale SNP detection in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook), an ecological and economic important conifer in China. SLAF libraries of 18 parent clones of a Chinese fir 2.5 generation seed orchard were sequenced and a total of 117,924 SLAFs were developed. We detected 147,376 SNPs from these SLAFs; 146,231 of them represented simple nucleotide change in A/G, C/T, A/C, A/T, C/G or G/T. The most frequent SNPs occurred in C/T (34.3%), while the majority of SNPs (68.2%) belonged to transition events (A/G and C/T). Notably, all the sequenced samples had high portion (78.2–80.9%) of common SNPs indicating that the Chinese fir genomes tended to change its nucleotides at common loci. 48,406 informative SNPs were then successfully utilized to genotype the tested samples (n = 18) followed by a phylogenetic tree to clarify their genetic relationship. Furthermore, a set of very high linkage disequilibrium (0.51–1.00) were identified from these informative SNPs. In brief, our work demonstrated that SLAF-seq is an alternative and cost-effectively high-throughput approach for large-scale SNP exploitation in Chinese fir. While the obtained SNPs offer useful marker resource for further genetic and genomic studies and will be helpful for Chinese fir breeding programs.

10

Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis

86%

Smyk W., Weber S. N., Hall R., Gruenhage F., Lammert F., Krawczyk M.

Journal of Physiology and Pharmacology

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2020

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tom 71

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nr 3

11

Alveolar echinococcosis in a dog; analysis of clinical and histological findings and molecular identification of Echinococcus multilocularis

86%

Antolova D., Vichova B., Jarosova J., Gal V., Bajuzik B.

Acta Parasitologica

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2018

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tom 63

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nr 3

12

Three novel single nucleotide polymorphisms of the 3-hydroxy-3-methylglutaryl coenzyme A reductase gene associated with egg-production in chicken

86%

Han C., An G., Du X.

Folia Biologica

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2014

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tom 62

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nr 3

13

The mRNA sequence polymorphisms of flowering key genes in bolting sensitive or tolerant sugar beet genotypes

72%

Alimirzaee M., Mirzaie-Asl A., Abdollahi M. R., Kolaei H. E., Fasahat P.

BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology

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2017

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tom 98

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nr 3

14

Low rates of Plasmodium falciparum Pfcrt K76T mutation in three sentinel sites of malaria monitoring in Cote d’Ivoire

72%

Konate A., Gnagne P. A., Bedia-Tanoh V. A., Amiah-Droh M., Tano D. K., Menan H. I. E., Yavo W.

Acta Parasitologica

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2018

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tom 63

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nr 4

15

Family-based association analysis of the MAPT gene in Parkinson disease

72%

Wang K. S., Mullersman J. E., Liu X. F.

Journal of Applied Genetics

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2010

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tom 51

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nr 4

The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were associated with PD (P < 0.05) in dominant and recessive models. Interestingly, 8 PD-associated SNPs were also associated with age at onset of PD (P < 0.05) in dominant and recessive models. The SNP most significantly associated with PD and age at onset was rs 17649641 (P = 0.015 and 0.021, respectively). Two-SNP haplotypes inferred from rs 17563965 and rs 17649641 also showed association with PD (P = 0.018) and age at onset (P = 0.026). These results provide further support for the role of MAPT in development of PD.

16

Ficolin-2 gene rs7851696 polymorphism is associated with delayed graft function and acute rejection in kidney allograft recipients

72%

Dabrowska-Zamojcin E., Czerewaty M., Malinowski D., Tarnowski M., Sluczanowska-Glabowska S., Domanski L., Safranow K., Pawlik A.

Archivum Immunologiae et Therapiae Experimentalis

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2018

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tom 66

|

nr 1

17

Genetic polymorphisms of the DNA repair gene MPG may be associated with susceptibility to rheumatoid arthritis

72%

Chen S. Y., Wan L., Huang C. M., Huang Y. C., Sheu J. J. C., Lin Y. J., Liu S. P., Lan Y. C., Lai C. H., Lin C. W., Tsai C. H., Tsai F. J.

Journal of Applied Genetics

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2010

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tom 51

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nr 4

Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. A previous study indicated that a DNA repair system was involved in the development of RA. In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20-1.55). Our results suggest that rs710079 and rs2858056 polymorphisms and the GCGC haplotype in the MPG gene are associated with the risk of RA progression, and thus may be used as molecular markers of RA if they are confirmed by further research.

18

Transcriptional immune response in mesenteric lymph nodes in pigs with different levels of resistance to Ascaris suum

72%

Skallerup P., Nejsum P., Cirera S., Skovgaard K., Pipper C. B., Fredholm M., Jorgensen C. B., Thamsborg S. M.

Acta Parasitologica

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2017

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tom 62

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nr 1

19

Matrix metalloproteinase-2 C-1306T promoter polymorphism and breast cancer risk in the Saudi population

72%

Saeed H. M., Alanazi M. S., Alshahrani O., Parine N. R., Alabdulkarim H. A., Shalaby M. A.

Acta Biochimica Polonica

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2013

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tom 60

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nr 3

Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), displayed a strikingly lower promoter activity with the T allele. In the present study, we investigate whether this MMP-2 SNP is associated with susceptibility to breast cancer in the Saudi population. Ninety breast cancer patients and 92 age matched controls were included in this study. TaqMan Allele Discrimination assay and DNA sequencing techniques were used for genotyping. The results showed that, the frequency of MMP-2 CC wild genotype was lower in breast cancer patients when compared with healthy controls (0.65 versus 0.79). The homozygous CC (OR=2, χ2=5.36, p=0.02) and heterozygous CT (OR=1.98, χ2=4.1, p=0.04) showing significantly high risk of breast cancer in the investigated group. In conclusion our data suggest that the MMP-2 C-1306T polymorphism may be associated with increased breast cancer risk in the Saudi population.

20

Characterization of the complete mitochondrial genome of Metastrongylus salmi (M. salmi) derived from Tibetan pigs in Tibet, China

72%

Li K., Shahzad M., Zhang H., Mehmood K., Jiang X., Luo H., Zhang L., Dong X., Li J.

Acta Parasitologica

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2018

|

tom 63

|

nr 2

Ograniczanie wyników

Interleukin‑1 genotype in periodontitis

Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

First molecular characterization of Trichostrongylus colubriformis infection in rural patients from Chile

Association between PNPLA3[G]/I148M variant, steatosis and fibrosis stage in hepatitis C virus - genetics matters

Placental vascular endothelial growth factor expression in pregnancies complicated by type 1 diabetes

SNP-minisequencing as an excellent tool for analysing degraded DNA recovered from archival tissues

The evaluation of bovine SNP50 beadchip assay performance in Polish red cattle breed

A comprehensive in silico prediction of the most deleterious missense variants in the bovine LEP gene

Detection of SNPs based on DNA specific-locus amplified fragment sequencing in Chinese fir (Cunninghamia lanceolata (Lamb.) Hook)

Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis

Alveolar echinococcosis in a dog; analysis of clinical and histological findings and molecular identification of Echinococcus multilocularis

Three novel single nucleotide polymorphisms of the 3-hydroxy-3-methylglutaryl coenzyme A reductase gene associated with egg-production in chicken

The mRNA sequence polymorphisms of flowering key genes in bolting sensitive or tolerant sugar beet genotypes

Low rates of Plasmodium falciparum Pfcrt K76T mutation in three sentinel sites of malaria monitoring in Cote d’Ivoire

Family-based association analysis of the MAPT gene in Parkinson disease

Ficolin-2 gene rs7851696 polymorphism is associated with delayed graft function and acute rejection in kidney allograft recipients

Genetic polymorphisms of the DNA repair gene MPG may be associated with susceptibility to rheumatoid arthritis