Results 31 to 40 of about 259,458 (252)

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

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

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

Arthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

CYP19A1 single nucleotide polymorphism associations with CYP19A1, NFκB1, and IL6 gene expression in human normal colon and normal liver samples

Pharmacogenomics and Personalized Medicine, 2014
Rosalind B Penney,1 Abbie Lundgreen,2 Aiwei Yao-Borengasser,3 Vineetha K Edavana,3 Suzanne Williams,3 Ishwori Dhakal,4 Roger K Wolff,2 Susan Kadlubar,3 Martha L Slattery2 1Department of Environmental and Occupational Health, University of Arkansas for ...
Penney RB, Lundgreen A, Yao-Borengasser A, Edavana VK, Williams S, Dhakal I, Wolff RK, Kadlubar S, Slattery ML   +8 more
doaj  

MT1A single Nucleotide Polymorphism and Blood Mercury Levels

Journal of Current Oncology and Medical Sciences, 2022
Introduction: The risk factors for the metallothionein (MT) polymorphism in concentrations of heavy metals, especially mercury, in the blood are subject to several confounding factors, including differences in the ethnicity of the population analyzed ...
Maryam Salacheh , Amir Jalali , Javad Babaei , Hamid Galehdari , Amal Saki   +4 more
doaj  

Correlation between MDM2 T309G single nucleotide polymorphism and esophageal cancer susceptibility: An updated meta‐analysis

Thoracic Cancer, 2020
Background The aim of this study was to investigate the correlation between MDM2 T309G single nucleotide polymorphism (SNP) and esophageal cancer susceptibility through pooling the open published data.
Lele Yin, Guo Shen, Bin Zhu
doaj   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source