Results 61 to 70 of about 1,224,383 (281)

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

Evaluation of usefulness of single-strand conformation polymorphism method for rapid detection of rifampicin-resistant mycobacterium tuberculosis [PDF]

Vojnosanitetski Pregled, 2004
The aim was to evaluate the Single-Strand Conformation Polymorphism method as a potential tool for rapid detection of rifampicin-resistant strains by the use of 39 rifampicin-resistant Mycobacterium tuberculosis strains isolated in Serbia.
Tešić Jelena, Lepšanović Zorica, Mirović Veljko   +2 more
doaj   +1 more source

Associations between the K232A polymorphism in the diacylglycerol-O-transferase 1 (DGAT1) gene and performance in Irish Holstein-Friesian dairy cattle [PDF]

, 2010
peer-reviewedSelection based on genetic polymorphisms requires accurate quantification of the effect or association of the polymorphisms with all traits of economic importance. The objective of this study was to estimate, using progeny performance data
Berry, Donagh, Howard, Dawn J., Kearney, J.F., McCabe, Matthew, O'Boyle, Padraig, Waters, Sinead M.   +5 more
core  

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

Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case–control study [PDF]

, 2023
Ruichao Li, Juhui Song, Ansu Zhao, Xiaoyan Diao, Ting Zhang, Xiaolan Qi, Zhizhong Guan, Yu An, Lingyan Ren, Chanjuan Wang, Yan He   +10 more
openalex   +1 more source

Mapping QTLs for mineral accumulation and shoot dry biomass under different Zn nutritional conditions in Chinese cabbage ( Brassica rapa L. ssp. pekinensis ) [PDF]

, 2008
Chinese cabbage (Brassica rapa L. ssp. pekinensis) is one of the most important vegetables in China. Genetic dissection of leaf mineral accumulation and tolerance to Zn stress is important for the improvement of the nutritional quality of Chinese cabbage
Aarts, M.G.M., Koornneef, M., Li, X., Li, Y., Song, X., Sun, R., Wang, X.W., Wu, J., Yuan, Y.X., Zhang, X.W., Zhao, J.   +10 more
core   +2 more sources

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

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

Genomic investigation of NDM-1 producing Enterobacterales transmission in a South Korean hospital

Journal of Global Antimicrobial Resistance
Objective: Prolonged detection of multispecies New Delhi metallo-β-lactamase (NDM)-1-producing Enterobacterales was observed in front of a South Korean hospital.
Jeong-Ih Shin, Sun Hee Park, Chulmin Park, Seung-Hyun Jung, Dong-Gun Lee   +4 more
doaj   +1 more source

Case of a 35‐Year‐Old Man With Pain With Sneezing and Leg Weakness Causing Collapse

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case details a 35‐year‐old man with no past medical history who presents with acute paraparesis and urinary retention in the setting of progressive paresthesias and weakness of his lower and upper extremities over several months. He was found to have longitudinally extensive transverse myelitis involving the cervical to mid‐thoracic cord ...
Joey Hsu, Karen Schoedel, Alan Plotzker, Leana Doherty   +3 more
wiley   +1 more source