Results 31 to 40 of about 709,841 (333)

Inflammasome genetic variants are associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundTuberculosis (TB) and AIDS are the leading causes of infectious diseases death worldwide. Here, we investigated the relationship between from single nucleotide polymorphisms (SNPs) of the NLRP3, CARD8, AIM2, CASP-1, IFI16, and IL-1β ...
Nathalia Beatriz Ramos de Sá, Nara Cristina Silva de Souza, Milena Neira-Goulart, Marcelo Ribeiro-Alves, Tatiana Pereira Da Silva, Jose Henrique Pilotto, Jose Henrique Pilotto, Valeria Cavalcanti Rolla, Carmem B. W. Giacoia-Gripp, Luzia Maria de Oliveira Pinto, Daniel Scott-Algara, Mariza Gonçalves Morgado, Sylvia Lopes Maia Teixeira   +12 more
doaj   +1 more source

Single nucleotide polymorphisms and cancer susceptibility [PDF]

Oncotarget, 2017
A large number of genes associated with various cancer types contain single nucleotide polymorphisms (SNPs). SNPs are located in gene promoters, exons, introns as well as 5'- and 3'- untranslated regions (UTRs) and affect gene expression by different mechanisms.
Heng Zhou, Na Deng, Hua Fan, Yuan Yuan
openaire   +3 more sources

The Utility of Single Nucleotide Polymorphism (SNP) Data in Phylogenetics

, 2017
Resolving the genealogy of life—the phylogenetic relationships that describe the evolutionary history of species—remains one of the great challenges of systematic biology.
A. Leaché, Jamie R. Oaks
semanticscholar   +1 more source

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

PLoS 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, Aubrey Faust, S. Schaffner, Daniel J. Park, K. Galinsky, R. Daniels, Elizabeth J. Hamilton, M. U. Ferreira, N. Karunaweera, D. Serre, P. Zimmerman, Juliana M. Sá, T. Wellems, L. Musset, E. Legrand, Alexandre Melnikov, D. Neafsey, S. Volkman, D. Wirth, Pardis C Sabeti   +19 more
semanticscholar   +1 more source

Strong association of interleukin-6 −174G/C promoter single nucleotide polymorphism with a decreased risk of colorectal cancer in ethnic Kashmiri population: A case control study

Tumor Biology, 2017
Chronic inflammation increases the risk of development of various cancers, including colorectal cancer. Interleukin-6 has been described as a key regulator of colorectal cancer development and is important in the process of colorectal tumorigenesis ...
Mujeeb Zafar Banday, Henah Mehraj Balkhi, Aga Syed Sameer, Nissar A Chowdri, Ehtishamul Haq   +4 more
doaj   +1 more source

Electrophoretic Detection of Single-Nucleotide Polymorphisms [PDF]

BioTechniques, 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, Tom Blake, Hope Talbert, Deven See   +3 more
openaire   +4 more sources

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

American 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, V. Carlton, L. Honigberg, Steven J. Schrodi, A. Chokkalingam, H. Alexander, K. Ardlie, Qiqing Huang, Ashley M. Smith, J. Spoerke, Marion T. Conn, Monica Chang, Sheng-Yung P. Chang, R. Saiki, J. Catanese, Diane U. Leong, Veronica E. Garcia, L. McAllister, D. Jeffery, Annette Lee, F. Batliwalla, E. Remmers, L. Criswell, M. Seldin, D. Kastner, C. Amos, J. Sninsky, P. Gregersen   +27 more
semanticscholar   +1 more source

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

Haematologica, 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, Jana Hoffmann, Philipp Erben, Benjamin Hanfstein, Armin Leitner, Rüdiger Hehlmann, Andreas Hochhaus, Martin C. Müller   +7 more
doaj   +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

Advanced 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, M. Ghaffari, M. Bazyar, Alireza Kheirollah   +3 more
semanticscholar   +1 more source

HyenaDNA: Long-Range Genomic Sequence Modeling at Single Nucleotide Resolution [PDF]

arXiv, 2023
Genomic (DNA) sequences encode an enormous amount of information for gene regulation and protein synthesis. Similar to natural language models, researchers have proposed foundation models in genomics to learn generalizable features from unlabeled genome data that can then be fine-tuned for downstream tasks such as identifying regulatory elements.
arxiv