Results 41 to 50 of about 459,264 (290)

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

Genetic variation of TLR4 influences immunoendocrine stress response: an observational study in cardiac surgical patients [PDF]

, 2011
Introduction: Systemic inflammation (e.g. following surgery) involves Toll-like receptor (TLR) signaling and leads to an endocrine stress response. This study aims to investigate a possible influence of TLR2 and TLR4 single nucleotide polymorphisms (SNPs)
Koch, Alexander, Hamann, Lutz, Schott, Matthias, Boehm, Olaf, Grotemeyer, Dirk, Kurt, Muhammed, Schwenke, Carsten, Schumann, Ralf R., Bornstein, Stefan R., Zacharowski, Kai   +9 more
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

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

, 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, Ahmed E. Nayel, Ahmed S. Abdelghani, Bruce R. Boynton, Ehab A. Ayoub, Emad M. Labib, Gregory A. Raczniak, Hala M. Esmat, Henry L. Niman, Jeffery Tjaden, Kenneth C. Earhart, Magdi D. Saad, Marshall R. Monteville, Mensah Agyen-Frempong, Mona M. Aly, Moustafa M. Mansour, Nasr El-Sayed, William K. Ampofo   +17 more
core   +2 more sources

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

, 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

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Simulasi Metode Statistik untuk Seleksi Single Nucleotide Polymorphism

Biotropika: Journal of Tropical Biology, 2019
Kemajuan teknologi sekuensing menyebabkan peningkatan ketersediaan sekuen genom organisme. Ribuan strain dan isolat dari berbagai populasi organisme telah diisolasi serta diketahui sekuen genomnya.
Mohamad Ikhsan Nurulloh, Hidayat Trimarsanto, Yustinus Ulung Anggraito, Endah Peniati, R Susanti   +4 more
doaj   +1 more source

Development and characterization of tri- and tetra-nucleotide polymorphic microsatellite markers for skipjack tuna (Katsuwonus pelamis) [PDF]

, 2012
Skipjack tuna (katsuwonus pelamis) (SJT) is the largest tuna fishery in all the major oceans around the world, and the largest marine fishery in Sri Lanka. Knowledge of genetic population structure and effective population size of SJT in the Indian Ocean
Chand, Vincent, Dammannagoda Acharige, Sudath, Mather, Peter   +2 more
core   +2 more sources

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +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