Results 31 to 40 of about 459,273 (291)

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset: HapMap tag-sincle-nucleotide polymorphism analysis [PDF]

, 2012
Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia. It is therefore not surprising that most antipsychotic medication acts
Hughes, Ian, Lawford, Bruce, Morris, Phillip, Swagell, Christopher, Voisey, Joanne, Young, Ross   +5 more
core   +2 more sources

Superoxide dismutase coding of gene polymorphisms associated with susceptibility to Parkinson’s disease [PDF]

Journal of Integrative Neuroscience, 2019
Oxidative stress linked to the etiology of Parkinson’s disease, which is characterized by chronic and progressive neurodegeneration of dopamine neurons.
Chunlei Liu, Jinju Fang, Wenke Liu
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

Cryptic MHC Polymorphism Revealed but Not Explained by Selection on the Class IIB Peptide-Binding Region [PDF]

, 2012
The immune genes of the major histocompatibility complex (MHC) are characterized by extraordinarily high levels of nucleotide and haplotype diversity. This variation is maintained by pathogen-mediated balancing selection that is operating on the peptide ...
Barcaccia, Barson, C. van Oosterhout, Castric, Cvitanich, Eimes, Ellegren, Fraser, Fraser, Fraser, Gibbs, Hughes, Hughes, Hughes, Hughes, Jensen, Kanagawa, Li, M. McMullan, Martin, Mehta, Mona, Nei, Piertney, Posada, Smith, Spurgin, Stone, Uyenoyama, Uyenoyama, V. Llaurens, van Oosterhout, Willing   +32 more
core   +1 more source

Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene [PDF]

, 2009
Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 ...
Collins, M, Raleigh, Stuart M, Ribbans, William J, Schwellnus, M P, Smith, R K, van der Merwe, L   +5 more
core   +1 more source

Single nucleotide polymorphism (SNP) discovery in polyploid plants

浙江大学学报. 农业与生命科学版, 2011
Single nucleotide polymorphism (SNP) is a kind of DNA polymorphism in genome which results from the variance of single nucleotide. In diploid organisms (such as human, Arabidopsis thaliana, Oryza sativa, etc.), many SNP markers were discovered as genetic
HE Dao-hua, XING Hong-yi, ZHAO Jun-xing, ZHAO Yan-ning, QI Cheng, WANG Yan-ting   +5 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  

A Single Nucleotide Polymorphism in the RASGRF2 Gene Is Associated with Alcoholic Liver Cirrhosis in Men [PDF]

, 2016
Background Genetic polymorphisms in the RAS gene family are associated with different diseases, which may include alcohol-related disorders. Previous studies showed an association of the allelic variant rs26907 in RASGRF2 gene with higher alcohol intake.
A Gonzalez-Quintela, A Sebio, A Tapia-Abellán, AC Easton, Antonio-Javier Chamorro, B Schwechter, CA Prescott, Clara Cieza-Borrella, D Posada, D Stacey, E Caiola, FF Roussotte, Francisco-Javier Laso, G Schumann, I Coste, I Novo-Veleiro, Ignacio Novo-Veleiro, Isabel Pastor, J-A Girault, JM Kyriakis, JM Lewohl, L Shi, L Zuo, M Barbacid, M Gori, M Marcos, M Marcos, M Marcos, M Marcos, MD Köhnke, Miguel Marcos, N Karachaliou, P Mandrekar, Pavel Strnad, Q Wang, R Maiya, R Pilarski, R Tóth, Rogelio González-Sarmiento, S Bala, S Faccidomo, S Vinci, T Reed, V Repunte-Canonigo, W Gao, WD Dupont, X Tian   +46 more
core   +5 more sources

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source