Results 51 to 60 of about 459,264 (290)

Detection of Single Nucleotide Polymorphisms [PDF]

Current Issues in Molecular Biology, 2003
Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive ...
Kwok, Pui-Yan, Chen, Xiangning
openaire   +2 more sources

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Software complex for simulation modelling of single nucleotide genetic polymorphism sites

Informatika
Objectives. High-throughput sequencing methods have recently become widely used in the fundamental and applied research of various human diseases. Sequencing of functionally significant regions of the human genome enables the simultaneous identification ...
M. M. Yatskou, D. D. Sarnatski, V. V. Skakun, V. V. Grinev   +3 more
doaj   +1 more source

Rapid single nucleotide polymorphism mapping in C. elegans

BMC Genomics, 2005
Background In C. elegans, single nucleotide polymorphisms (SNPs) can function as silent genetic markers, with applications ranging from classical two- and three-factor mapping to measuring recombination across whole chromosomes. Results Here, we describe
Hullett Patrick, Harrach Tracey, Hammarlund Marc, Davis M Wayne, Olsen Shawn, Jorgensen Erik M   +5 more
doaj   +1 more source

SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean. [PDF]

, 2015
A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing ...
Cregan, Perry B, Hwang, Eun-Young, Hyten, David L, Jackson, Scott A, Jenkins, Jerry, Jia, Gaofeng, McClean, Phillip E, Osorno, Juan M, Schmutz, Jeremy, Schroeder, Steven G, Song, Qijian   +10 more
core   +1 more source

Single-Nucleotide Polymorphisms in Soybean [PDF]

Genetics, 2003
Abstract Single-nucleotide polymorphisms (SNPs) provide an abundant source of DNA polymorphisms in a number of eukaryotic species. Information on the frequency, nature, and distribution of SNPs in plant genomes is limited. Thus, our objectives were (1) to determine SNP frequency in coding and noncoding soybean (Glycine max L.
Zhu, Y. L., Song, Q. J., Hyten, D. L., Van Tassel, C. P., Matukumalli, L. K., Grimm, D. R., Hyatt, S. M., Fickus, E. W., Young, N. D., Cregan, P. B.   +9 more
openaire   +2 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Genome sequencing of a Hevea brasiliensis for single nucleotide polymorphism discovery [PDF]

, 2013
The rubber tree (Hevea spp.), is the primary plant used in natural rubber production. Historically, the breeding of rubber trees has been based on techniques involving statistics and quantitative genetic approaches to determine the best genotypes to be ...
Cardoso-Silva, Claudio Benicio, Conson, Andre R.O., Garcia, Antonio Augusto Franco, Le Guen, Vincent, Mantello, Camilia Campos, Silva, Carla Cristina, Souza, Anete Pereira, Souza, Livia Moura, Toledo-Silva, Guilherme   +8 more
core  

Integration of genetics into a systems model of electrocardiographic traits using humanCVD BeadChip [PDF]

, 2012
<p>Background—Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death.</p> <p>Methods and Results—In this study, 3 population-based cohorts (n=10 526) genotyped ...
Adeniran, I., Amuzu, A., Braund, P.S., Burton, P.R., Casas, J.-P., Day, I.N.M., Drenos, F., Eriksson, P., Folkersen, L., Gaunt, T.R., Hancox, J.C., Hingorani, A.D., Humphries, S.E., Kivimaki, M., Kumari, M., Lawlor, D.A., Macfarlane, P.W., Nelson, C.P., Samani, N.J., Shah, S., Talmud, P.J., Tobin, M.D., Tomaszewski, M., Whittaker, J., Zhang, H.   +24 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source