Results 31 to 40 of about 1,522,500 (352)

A mechanism for a single nucleotide intron shift [PDF]

Nucleic Acids Research, 2017
Spliceosomal introns can occupy nearby rather than identical positions in orthologous genes (intron sliding or shifting). Stwintrons are complex intervening sequences, where an 'internal' intron interrupts one of the sequences essential for splicing, generating after its excision, a newly formed canonical intron defined as 'external'.
Fekete, Erzsébet, Flipphi, Michel, Ág, Norbert, Kavalecz, Napsugár, Cerqueira, Gustavo, Scazzocchio, Claudio, Karaffa, Levente   +6 more
openaire   +4 more sources

Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population

Gut and Liver, 2018
Background/AimsThe development of nonalcoholic fatty liver disease (NAFLD) is associated with multiple genetic and environmental factors.Methods : We performed a genome-wide association study to identify the genetic factors related to NAFLD in a Korean ...
Goh Eun Chung, Young Lee, Jeong Yoon Yim, Eun Kyung Choe, Min-Sun Kwak, Jong In Yang, Boram Park, Jong-Eun Lee, Jeong A Kim, Joo Sung Kim   +9 more
doaj   +1 more source

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

Monovar: single-nucleotide variant detection in single cells [PDF]

Nature Methods, 2016
Current variant callers are not suitable for single-cell DNA sequencing, as they do not account for allelic dropout, false-positive errors and coverage nonuniformity. We developed Monovar (https://bitbucket.org/hamimzafar/monovar), a statistical method for detecting and genotyping single-nucleotide variants in single-cell data.
Zafar, Hamim, Wang, Yong, Nakhleh, Luay, Navin, Nicholas, Chen, Ken   +4 more
openaire   +4 more sources

A nucleotide resolution map of Top2-linked DNA breaks in the yeast and human genome [PDF]

, 2019
DNA topoisomerases are required to resolve DNA topological stress. Despite this essential role, abortive topoisomerase activity generates aberrant protein-linked DNA breaks, jeopardising genome stability.
Allison, Rachal M, Cooper, Tim J, Gittens, William H, Johnson, Dominic J, Neale, Matthew J, Thomas, Holly   +5 more
core   +1 more source

A single-nucleotide exon found in Arabidopsis [PDF]

Scientific Reports, 2015
AbstractThe presence of introns in gene-coding regions is one of the most mysterious evolutionary inventions in eukaryotic organisms. It has been proposed that, although sequences involved in intron recognition and splicing are mainly located in introns, exonic sequences also contribute to intron splicing. The smallest constitutively spliced exon known
Chun-Ming Liu, Lei Guo
openaire   +3 more sources

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

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. [PDF]

, 2011
Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6.
A Kong, A MacLean, A Serretti, AE Baum, AJ Jasinska, AL Price, BK Suarez, BL Browning, C-Y Liu, D Blackwood, D Grozeva, D Grozeva, D Koller, D Lambert, D Morris, D Sadovnick, D Zhang, DH Blackwood, DL Pauls, E Green, E Green, E S Gershon, EM Wijsman, EN Smith, ER Hauser, ET Cirulli, F J McMahon, F Mathieu, G J Lyon, G Kirov, GR Abecasis, H Coon, H Edenberg, HJ Edenberg, HM Ollila, I Jones, J A Badner, J B Potash, J Fan, J I Nurnberger, J Kelsoe, J Ross, JI Nurnberger, JM Ekholm, JPA Ioannidis, JR Kelsoe, JR O’Connell, KA Frazer, KR Merikangas, KY Liang, L Jones, LJ Adams, LJ Scott, M Ayub, M Gill, M Hamshere, MA Spence, MAR Ferreira, MB McQueen, MS McPeek, N Craddock, P Keck, P P Zandi, P Sklar, PP Zandi, R Remick, R Robinson, R Segurado, S Macgregor, S Purcell, SA Bacanu, T Foroud, T Venken, TC Matise, V L Willour, W Byerley, W McMahon, WH Berrettini, WTCC Consortium   +78 more
core   +3 more sources

Picking single-nucleotide polymorphisms in forests [PDF]

BMC Proceedings, 2007
Abstract With the development of high-throughput single-nucleotide polymorphism (SNP) technologies, the vast number of SNPs in smaller samples poses a challenge to the application of classical statistical procedures. A possible solution is to use a two-stage approach for case-control data in which, in the first stage, a screening test selects
Silke Szymczak, Daniel F Schwarz, Andreas Ziegler, Inke R. König   +3 more
openaire   +3 more sources

GPla Polymorphisms Are Associated with Outcomes in Patients at High Cardiovascular Risk

Frontiers in Cardiovascular Medicine, 2017
BackgroundPlatelet membrane glycoprotein receptors mediate thrombus formation. GP Ia/IIa is an essential platelet integrin receptor. Single-nucleotide polymorphisms (SNPs) of the GP Ia/IIa gene alter GP Ia/IIa expression; however, their influence on ...
Dominik Rath, Elke Schaeffeler, Elke Schaeffeler, Stefan Winter, Stefan Winter, Semjon Levertov, Karin Müller, Michal Droppa, Fabian Stimpfle, Harald F. Langer, Meinrad Gawaz, Matthias Schwab, Matthias Schwab, Matthias Schwab, Matthias Schwab, Tobias Geisler   +15 more
doaj   +1 more source