Results 51 to 60 of about 530,144 (346)

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

Single Nucleotide Polymorphism (SNP) และ DNA Polymorphisms

Journal of Associated Medical Sciences, 2015
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Songyot Anuchapreeda
doaj  

Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage

BMC Pregnancy and Childbirth, 2022
Background Postpartum hemorrhage remains a key contributor to overall maternal morbidity in the United States. Current clinical assessment methods used to predict postpartum hemorrhage are unable to prospectively identify about 40% of hemorrhage cases ...
Elise N. Erickson, Kathleen M. Krol, Allison M. Perkeybile, Jessica J. Connelly, Leslie Myatt   +4 more
doaj   +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

PLA2R1 and HLA-DQA1 SNP in patients with primary membranous nephropathy.

PLoS ONE
BackgroundPrimary membranous nephropathy is a widely recognized autoimmune disease associated with podocyte antigens; the most important autoantigen is PLA2R1. PLA2R1 and HLA-DQA1 play important roles in the production of pathogenic antibodies.
Junyi Zhou, Zhijian Zhang, Kezhi Zhou, Leting Zhou, Jing Xue, Bin Liu, Xiran Zhang, Ting Cai, Biao Huang, Yi Zhang, Zhigang Hu, Liang Wang, Xiaobin Liu   +12 more
doaj   +1 more source

Improving accuracy of genomic predictions within and between dairy cattle breeds with imputed high-density single nucleotide polymorphism panels.

Journal of Dairy Science, 2012
Achieving accurate genomic estimated breeding values for dairy cattle requires a very large reference population of genotyped and phenotyped individuals.
M. Erbe, B. Hayes, B. Hayes, L. Matukumalli, S. Goswami, P. Bowman, C. Reich, B. Mason, M. Goddard   +8 more
semanticscholar   +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

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 Diversity and Conservation Priority of Korean Chicken Breeds Using Single-Nucleotide Polymorphism Markers. [PDF]

Animals (Basel)
Song H, Kim Y, Lee S, Choi B, Kim S, Jin D, Kim G, Ha S, Mun S, Cho Y, Chung Y.   +10 more
europepmc   +2 more sources