Results 51 to 60 of about 3,320,990 (271)

Niveles de homocisteína y polimorfismos de los genes de la MTHFR y la CBS en pacientes colombianos con trombosis venosa superficial y profunda

Biomédica: revista del Instituto Nacional de Salud, 2010
Introducción. Se produce trombosis cuando en el sistema hemostático se desequilibran los mecanismos procoagulantes, anticoagulantes y fibrinolíticos, y se forman coágulos dentro de los vasos sanguíneos.
Claudia Ayala, Reggie García, Edith Cruz, Karol Prieto, Marta Bermúdez   +4 more
doaj   +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

Association of GPX1 Pro198Leu and SOD1 A251G polymorphisms with risk of acute kidney rejection [PDF]

Scripta Medica
Background/Aim: Acute rejection is one factor threatening the success of kidney transplantation. One of the factors that can cause graft rejection is oxidative stress.
Rayatpisheh Shima, Karimi Mohammad-Hossein, Saadat Iraj   +2 more
doaj   +1 more source

Characterization of polyploid wheat genomic diversity using a high-density 90 000 single nucleotide polymorphism array

Plant Biotechnology Journal, 2014
High-density single nucleotide polymorphism (SNP) genotyping arrays are a powerful tool for studying genomic patterns of diversity, inferring ancestral relationships between individuals in populations and studying marker–trait associations in mapping ...
Shichen Wang, Debbie Wong, K. Forrest, A. Allen, S. Chao, B. Huang, M. Maccaferri, S. Salvi, S. Milner, L. Cattivelli, A. Mastrangelo, A. Whan, S. Stephen, G. Barker, Ralf Wieseke, J. Plieske, International Wheat Genome Sequencing Consortium, M. Lillemo, D. Mather, R. Appels, R. Dolferus, G. Brown-Guedira, A. Korol, Alina Akhunova, C. Feuillet, J. Salse, M. Morgante, C. Pozniak, M. Luo, J. Dvorak, M. Morell, J. Dubcovsky, M. Ganal, R. Tuberosa, C. Lawley, Ivan Mikoulitch, C. Cavanagh, K. Edwards, M. Hayden, E. Akhunov   +39 more
semanticscholar   +1 more source

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

FEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah, Hui Li, Rushan Yan, Chengyu Chen, Madiha Islam, Abdul Majid, Ibrar Ahmed, Parviz Heidari, Xiaoxuan Tian   +8 more
wiley   +1 more source

Inverse correlation of population similarity and introduction date for invasive ascidians. [PDF]

PLoS ONE, 2008
The genomes of many marine invertebrates, including the purple sea urchin and the solitary ascidians Ciona intestinalis and Ciona savignyi, show exceptionally high levels of heterozygosity, implying that these populations are highly polymorphic. Analysis
Nathan Silva, William C Smith
doaj   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Genetic Polymorphism

, 2017
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease.
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

Analysis of CYP2D6 Gene Variant Frequencies in Iranian Population [PDF]

Iranian Journal of Medical Sciences
Background: The cytochrome P450 (P450s or CYPs) enzyme family, particularly CYP2D6, significantly influences drug metabolism, handling approximately 20-25% of prescribed medications.
Mahsa Hokmabadi, Elnaz Asadifard, Sepideh Arbabi-Bidgoli, Anoosh Naghavi, Mandana Hasanzad   +4 more
doaj   +1 more source