Results 91 to 100 of about 373,405 (315)

Probing RNA recognition by human ADAR2 using a high-throughput mutagenesis method. [PDF]

, 2016
Adenosine deamination is one of the most prevalent post-transcriptional modifications in mRNA. In humans, ADAR1 and ADAR2 catalyze this modification and their malfunction correlates with disease. Recently our laboratory reported crystal structures of the
Beal, Peter A, Wang, Yuru
core   +1 more source

Multiplex restriction amplicon sequencing: a novel next‐generation sequencing‐based marker platform for high‐throughput genotyping

Plant Biotechnology Journal, 2019
Summary To enable rapid selection of traits in marker‐assisted breeding, markers must be technically simple, low‐cost, high‐throughput and randomly distributed in a genome.
A. Bernardo, Paul St. Amand, Ha Le, Zhenqi Su, G. Bai   +4 more
semanticscholar   +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

Additional file 3 of Correcting nucleotide-specific biases in high-throughput sequencing data

, 2017
Figure S2. ChIP-seq and DNase-seq coverage in a super enhancer region (Hnisz D, Abraham BJ, Lee TI, et al. Transcriptional super-enhancers connected to cell identity and disease. Cell. 2013;155(4):10.1016/j.cell.2013.09.053). This region is also in a DNase hypersensitivity region.
Wang, Jeremy, Quach, Bryan, Furey, Terrence   +2 more
openaire   +1 more source

DeepSV: accurate calling of genomic deletions from high-throughput sequencing data using deep convolutional neural network

BMC Bioinformatics, 2019
Calling genetic variations from sequence reads is an important problem in genomics. There are many existing methods for calling various types of variations.
Lei Cai, Y. Wu, Jingyang Gao
semanticscholar   +1 more source

Dihydroorotate dehydrogenase (DHODH) regulates trophoblast syncytialization through organelle stress–induced cellular senescence

FEBS Open Bio, EarlyView.
The inhibition of mitochondrial dihydroorotate dehydrogenase (DHODH) impairs syncytialization and induces cellular senescence via mitochondrial and endoplasmic reticulum stress in human trophoblast stem cells, elevating sFlt1/PlGF levels, a hallmark of placental dysfunction in hypertensive disorders of pregnancy.
Kanoko Yoshida, Kazuya Kusama, Ayaka Horiuchi, Yu Kawaguchi, Atsuya Tsuru, Mikihiro Yoshie, Kazuhiro Tamura   +6 more
wiley   +1 more source

Generation of large mitochondrial and nuclear nucleotide sequences and phylogenetic analyses using high-throughput short-read datasets for endangered Placostylinae snails of the southwest Pacific

Molluscan Research, 2021
Placostylinae are a sub-family of terrestrial land snails endemic to the southwest Pacific. Some species are harvested for food, and others are critically endangered. Here we assemble and characterise complete mitochondrial genomes, as well as three nuclear markers (partial 45S ribosomal cassettes and the histone genes H3 and H4) of five snail species ...
Mathieu Quenu, Steven A. Trewick, Elizabeth E. Daly, Mary Morgan-Richards   +3 more
openaire   +1 more source

Genotyping by PCR and High-Throughput Sequencing of Commercial Probiotic Products Reveals Composition Biases.

Frontiers in Microbiology, 2016
Recent advances in microbiome research have brought renewed focus on beneficial bacteria, many of which are available in food and dietary supplements. Although probiotics have historically been defined as microorganisms that convey health benefits when ...
Wesley Morovic, Ashley A. Hibberd, Bryan Zabel, Rodolphe Barrangou, Buffy Stahl   +4 more
doaj   +1 more source

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Human Mutation, 2019
Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular diagnosis.
A. Jourdain, F. Petit, M. Odou, M. Balduyck, Perrine Brunelle, William Dufour, Simon Boussion, E. Brischoux-Boucher, C. Colson, A. Dieux, M. Gérard, J. Ghoumid, F. Giuliano, A. Goldenberg, Philippe Khau Van Kien, D. Lehalle, G. Morin, S. Moutton, Thomas Smol, C. Vanlerberghe, S. Manouvrier-Hanu, F. Escande   +21 more
semanticscholar   +1 more source

Digital twins to accelerate target identification and drug development for immune‐mediated disorders

FEBS Open Bio, EarlyView.
Digital twins integrate patient‐derived molecular and clinical data into personalised computational models that simulate disease mechanisms. They enable rapid identification and validation of therapeutic targets, prediction of drug responses, and prioritisation of candidate interventions.
Anna Niarakis, Philippe Moingeon
wiley   +1 more source