Results 41 to 50 of about 709,557 (336)

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

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

Recent and Ancient Signature of Balancing Selection around the S-Locus in Arabidopsis halleri and A. lyrata [PDF]

, 2012
Balancing selection can maintain different alleles over long evolutionary times. Beyond this direct effect on the molecular targets of selection, balancing selection is also expected to increase neutral polymorphism in linked genome regions, in inverse ...
Castric, Vincent, Charlesworth, Deborah, Pauwels, Maxime, Roux, Camille, Ruggiero, Maria-Valeria, Vekemans, Xavier   +5 more
core   +3 more sources

Single nucleotide polymorphisms from Theobroma cacao expressed sequence tags associated with witches' broom disease in cacao [PDF]

, 2009
In order to increase the efficiency of cacao tree resistance to witches¿ broom disease, which is caused by Moniliophthora perniciosa (Tricholomataceae), we looked for molecular markers that could help in the selection of resistant cacao genotypes.
Carels, Nicolas, Cascardo, Julio Cezar M., Gaiotto, Fernanda Amato, Gesteira, Abelmon, Gramacho, Karina Peres, Lima, Leila S., Lopes, Uilson Vanderlei, Micheli, Fabienne, Novais, R., Pires, José Luis, Zaidan, Humberto A.   +10 more
core   +1 more source

XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk [PDF]

, 2013
Human Papillomavirus (HPV) is the main cause of cervical cancer and its precursor lesions. Transformation may be induced by several mechanisms, including oncogene activation and genome instability.
A Roszak, A Söderlund-Strand, A Udumudi, Andrea Crivaro, B Kuschel, Carlos Daniel Golijow, CL Pearce, EI Cortés-Gutiérrez, G Barbisan, Gisela Barbisan, H Romanowicz-Makowska, J Han, J Huang, J Thacker, K Ruyck De, L Jiao, Lucia Poleri, Luis Orlando Pérez, M Evander, M Kadaja, M Kadaja, M Kadaja, M Kadaja, MA Loizidou, P Magnusson, P Vineis, S Duensing, S Rafii, S Rafii, SA Miller, SS Wang, TC Wright, W Settheetham-Ishida, X He, Y Ting   +34 more
core   +2 more sources

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Circulation Research, 2014
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.
J. Glessner, A. Bick, K. Ito, Jason G. Homsy, Laura Rodríguez-Murillo, M. Fromer, Erica Mazaika, B. Vardarajan, Michael J. Italia, Jeremy Leipzig, S. DePalma, R. Golhar, Stephan J Sanders, B. Yamrom, M. Ronemus, I. Iossifov, A. Willsey, M. State, J. Kaltman, P. White, Yufeng Shen, D. Warburton, M. Brueckner, C. Seidman, E. Goldmuntz, B. Gelb, R. Lifton, J. Seidman, H. Hakonarson, W. Chung   +29 more
semanticscholar   +1 more source

Functional single nucleotide polymorphism-based association studies

Human 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, Ireland James S, Useche Francisco, Faham Malek   +3 more
doaj   +1 more source

A Novel Single Nucleotide Polymorphism in Exon 4 of Insulin-Like Growth Factor-1 Associated with Production Traits in Bali Cattle [PDF]

, 2012
Insulin-like growth factor-1 (IGF-1) is one of the gene candidates that can be used in selection strategy by using DNA markers (marker assisted selection).
Arman, C. (C), Gurnadi, E. (E), Maskur, M. (Maskur), Muladno, M. (Muladno), Sumantri, C. (C)   +4 more
core  

Fibroblast growth factor receptor 4 single nucleotide polymorphism Gly388Arg in head and neck carcinomas [PDF]

, 2019
BACKGROUND Head and neck squamous cell carcinoma (HNSCC) is considered to be a progressive disease resulting from alterations in multiple genes regulating cell proliferation and differentiation like receptor tyrosine kinases (RTKs) and members of the ...
Bergmann, C., Gires, O., Ihrler, S., Issing, W., Streit, S., Wimmer, E.   +5 more
core   +2 more sources