Results 121 to 130 of about 533,077 (310)

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

open access: yesFEBS 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   +6 more
wiley   +1 more source

IMPLEMENTATION OF WHOLE GENOME SEQUENCING FOR BACTERIA GENOTYPING [PDF]

open access: yesPostępy Mikrobiologii, 2018
Daria Artyszuk, Tomasz Wołkowicz
doaj   +1 more source

Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer’s disease and a cumulative effects model for risk liability [PDF]

open access: gold
Jun Pyo Kim   +24 more
openalex   +1 more source

Tumor‐stromal crosstalk and macrophage enrichment are associated with chemotherapy response in bladder cancer

open access: yesFEBS Open Bio, EarlyView.
Chemoresistance in bladder cancer: Macrophage recruitment associated with CXCL1, CXCL5 and CXCL8 expression is characteristic of Gemcitabine/Cisplatin (Gem/Cis) Non‐Responder tumors (right side) while Responder tumors did not show substantial tumor‐stromal crosstalk (left side). All biological icons are attributed to Bioicons: carcinoma, cancerous‐cell‐
Sophie Leypold   +11 more
wiley   +1 more source

Multi‐omics and low‐input proteomics profiling reveals dynamic regulation driving pluripotency initiation in early mouse embryos

open access: yesFEBS Open Bio, EarlyView.
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li   +8 more
wiley   +1 more source

Whole‐genome sequencing and the physician [PDF]

open access: yesClinical Genetics, 2012
Thorogood, A.   +3 more
openaire   +3 more sources

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing [PDF]

open access: gold, 2017
Myungshin Kim   +9 more
openalex   +1 more source

Author Correction: Sparse whole-genome sequencing identifies two loci for major depressive disorder [PDF]

open access: bronze, 2023
Na Cai   +99 more
openalex   +1 more source

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