Results 31 to 40 of about 657,697 (233)

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

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

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

Simultaneous Selection of Multiple Important Single Nucleotide Polymorphisms in Familial Genome Wide Association Studies Data [PDF]

Scientific Reports volume 13, Article number: 8476 (2023), 2018
We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing the effect of one SNP at a time, commonly termed as `single SNP association analysis'.
arxiv   +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

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

, 2016
Single nucleotide polymorphism (SNP) microarray data. SNP data underlying the finding in this article.
Axel Benner, Harald Binder, Lars Bullinger, Martin Schumacher, Richard F. Schlenl, Stefanie Hieke   +5 more
core   +4 more sources

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2020
Objective To investigate the association between genetic polymorphisms in candidate genes or candidate regions and the development of endometriosis in Brazilian women.
Paula Coelho Silva Viana, Ana Carolina Delgado Malvaccini Mendes, Lucas Farah Delgado, Gustavo Tostes, Lidiane Gonçalves, Homero Gonçalves Júnior, Nádia Rezende Barbosa Raposo, Geraldo Sérgio Farinazzo Vitral, Pamela Souza Almeida Silva Gerheim   +8 more
doaj   +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  

S Gene (Corneodesmosin) Diversity and its Relationship to Psoriasis; High Content of cSNP in the HLA-Linked S Gene [PDF]

, 2000
Psoriasis is a heterogeneous disease in which several reports suggest the presence of a susceptibility gene in or in the proximity of the human leukocyte antigen complex in chromosome 6p.
Enerbäck, Charlotta, Enlund, Fredrik, Inerot, Annica, Martinsson, Tommy, Samuelsson, Lena, Swanbeck, Gunnar, Wahlström, Jan   +6 more
core   +1 more source