Results 41 to 50 of about 690,386 (352)

ABL single nucleotide polymorphisms may masquerade as BCR-ABL mutations associated with resistance to tyrosine kinase inhibitors in patients with chronic myeloid leukemia

open access: yesHaematologica, 2008
The BCR-ABL K247R change is based on a rare single nucleotide polymorphism occurring likewise in healthy controls and non-hematologic cell types. Despite its juxtaposition to the P-loop, functional analysis showed no alteration compared to non-mutated ...
Thomas Ernst   +7 more
doaj   +1 more source

Integrating multiple molecular sources into a clinical risk prediction signature by extracting complementary information [PDF]

open access: yes, 2016
Single nucleotide polymorphism (SNP) microarray data. SNP data underlying the finding in this article.
Axel Benner   +5 more
core   +7 more sources

Development of a Single Nucleotide Polymorphism Barcode to Genotype Plasmodium vivax Infections

open access: yesPLoS Neglected Tropical Diseases, 2015
Plasmodium vivax, one of the five species of Plasmodium parasites that cause human malaria, is responsible for 25–40% of malaria cases worldwide. Malaria global elimination efforts will benefit from accurate and effective genotyping tools that will ...
M. Baniecki   +19 more
semanticscholar   +1 more source

Electrophoretic Detection of Single-Nucleotide Polymorphisms [PDF]

open access: yesBioTechniques, 2000
Single-nucleotide polymorphisms (SNPs) represent the most prevalent class of genetic markers available for linkage disequilibrium or cladistic analyses. PCR primers may be labeled with fluorescent dyes and used to rapidly and accurately differentiate among alleles that are defined by a single-nucleotide differences.
Vladimir Kanazin   +3 more
openaire   +4 more sources

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

open access: yes, 2017
A single nucleotide polymorphism on chromosome 4 (SNP TXNIP) has been reported to be associated with ...
Cirera, Susanna   +7 more
core   +1 more source

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

open access: yesAmerican Journal of Human Genetics, 2004
Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting approximately 1% of the adult population worldwide, with an estimated heritability of 60%.
A. Begovich   +27 more
semanticscholar   +1 more source

Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype [PDF]

open access: yes, 2009
Nucleotide excision repair (NER) is responsible for repairing bulky helix-distorting DNA lesions and is essential for the maintenance of genomic integrity.
Alison Spiers   +11 more
core   +1 more source

Association between two common polymorphisms (single nucleotide polymorphism -250G/A and -514C/T) of the hepatic lipase gene and coronary artery disease in type 2 diabetic patients

open access: yesAdvanced Biomedical Research, 2016
Background: Variations in the hepatic lipase (HL) gene are the potential candidate for coronary artery disease (CAD) especially in type 2 diabetes mellitus (T2DM) in diverse populations. We assessed the association of -514C/T and -250G/A polymorphisms in
G. Mohammadzadeh   +3 more
semanticscholar   +1 more source

Next generation sequencing reveals the antibiotic resistant variants in the genome of Pseudomonas aeruginosa [PDF]

open access: yes, 2017
Rapid progress in next generation sequencing and allied computational tools have aided in identification of single nucleotide variants in genomes of several organisms. In the present study, we have investigated single nucleotide polymorphism (SNP) in ten
Ramanathan, Babu *
core   +1 more source

Functional single nucleotide polymorphism-based association studies

open access: yesHuman Genomics, 2006
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two main types of designs.
Carlton Victoria EH   +3 more
doaj   +1 more source

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