Results 81 to 90 of about 737,082 (371)

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

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  

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)
Boehm, Olaf, Bornstein, Stefan R., Grotemeyer, Dirk, Hamann, Lutz, Koch, Alexander, Kurt, Muhammed, Schott, Matthias, Schumann, Ralf R., Schwenke, Carsten, Zacharowski, Kai   +9 more
core   +2 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Polymorphisms of melatonin receptor genes and their associations with egg production traits in Shaoxing duck [PDF]

Asian-Australasian Journal of Animal Sciences, 2018
Objective In birds, three types of melatonin receptors (MTNR1A, MTNR1B, and MTNR1C) have been cloned. Previous researches have showed that three melatonin receptors played an essential role in reproduction and ovarian physiology. However, the association
Peishi Feng, Wanqiu Zhao, Qiang Xie, Tao Zeng, Lizhi Lu, Lin Yang   +5 more
doaj   +1 more source

Single Nucleotides Polymorphisms in COX2 Gene and their Association with Signs and Symptoms of Teething – A Pilot Study [PDF]

, 2023
Alana Gonçalvez Mauta, Caio Luiz Bitencourt Reis, Vinicius Broska Teodoro, Isabela Ribeiro Madalena, Christian Kirschneck, Peter Proff, Aleysson Olímpio Paza, Flares Baratto‐Filho, Daniela Silva Barroso de Oliveira, Érika Calvano Küchler, João Armando Brancher   +10 more
openalex   +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

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

Leptin gene polymorphism of Ongole Grade cattle based on single nucleotide polymorphism

Journal of the Indonesian Tropical Animal Agriculture, 2018
Point mutation on exon 2 of leptin gene, which changes amino acid encoding from Arginine to Cysteine, may alters the physiological function of the leptin hormone.
N. Hilmia, D. Rahmat, D. Dudi
doaj   +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