Results 71 to 80 of about 690,386 (352)

Automation in genotyping of single nucleotide polymorphisms [PDF]

open access: yesHuman Mutation, 2001
Automation for genotyping of single nucleotide polymorphisms (SNPs) can be split into the automation of the sample preparation and the automation of the analysis technology. SNP genotyping methods are reviewed and solutions for their automation discussed. A panacea for SNP genotyping does not exist.
openaire   +3 more sources

Single-Nucleotide Polymorphisms in the p53 Pathway [PDF]

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 2005
A cell culture assay has been developed that detects and validates single-nucleotide polymorphisms (SNPs) in genes that populate the p53 pathway. One hundred thirteen EBV-transformed human B-lymphocyte cell lines obtained from a diverse population were employed to measure the apoptotic response to gamma radiation.
Z. Feng   +10 more
openaire   +3 more sources

A nucleotide‐independent, pan‐RAS‐targeted DARPin elicits anti‐tumor activity in a multimodal manner

open access: yesMolecular Oncology, EarlyView.
We report a Designed Ankyrin Repeat Protein that binds and inhibits RAS proteins, which serve as central cell signaling hubs and are essential for the progression of many cancers. Its unique feature is that it does not discriminate between different RAS isoforms or mutations and is capable of binding to RAS in both its active (GTP‐bound) and inactive ...
Jonas N. Kapp   +13 more
wiley   +1 more source

Development of a molecular method for the rapid screening and identification of the three functionally relevant polymorphisms in the human TAS2R38 receptor gene in studies of sensitivity to the bitter taste of PROP [PDF]

open access: yes, 2015
The objective of this work was to develop a rapid screening method to identify the three single nucleotide polymorphisms (SNPs) in the TAS2R38 gene, with the aim of providing a significant contribution to studies designed to assess sensitivity to the ...
Atzori, E, Orrù, R, Padiglia, A
core   +2 more sources

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

open access: yesMolecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim   +11 more
wiley   +1 more source

Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin [PDF]

open access: yes, 2007
The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a ...
Abdelattar Arafa   +17 more
core   +2 more sources

Improving accuracy of genomic predictions within and between dairy cattle breeds with imputed high-density single nucleotide polymorphism panels.

open access: yesJournal of Dairy Science, 2012
Achieving accurate genomic estimated breeding values for dairy cattle requires a very large reference population of genotyped and phenotyped individuals.
M. Erbe   +8 more
semanticscholar   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

open access: yesFEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik   +2 more
wiley   +1 more source

CYP19A1 single nucleotide polymorphism associations with CYP19A1, NFκB1, and IL6 gene expression in human normal colon and normal liver samples

open access: yesPharmacogenomics and Personalized Medicine, 2014
Rosalind B Penney,1 Abbie Lundgreen,2 Aiwei Yao-Borengasser,3 Vineetha K Edavana,3 Suzanne Williams,3 Ishwori Dhakal,4 Roger K Wolff,2 Susan Kadlubar,3 Martha L Slattery2 1Department of Environmental and Occupational Health, University of Arkansas for ...
Penney RB   +8 more
doaj  

Leptin gene polymorphism of Ongole Grade cattle based on single nucleotide polymorphism

open access: yesJournal of the Indonesian Tropical Animal Agriculture, 2018
Point mutation on exon 2 of leptin gene, which changes amino acid encoding from Arginine to Cysteine, may alters the physiological function of the leptin hormone.
N. Hilmia, D. Rahmat, D. Dudi
doaj   +1 more source

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