Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.12.017
Abstract: BACKGROUND Pathogenic variants in the dynamin 1 like gene are related to abnormal mitochondrial dynamics and distributions and are associated to variable clinical phenotypes. A few patients harboring the p.Arg403Cys missense variant appears to be… read more here.
Keywords: focal status; diagnosis; status acute; differential diagnosis ... See more keywords
Catalysis and Electron Transfer in De Novo Designed Metalloproteins.
Sign Up to like & getrecommendations! Published in 2022 at "Chemical reviews"
DOI: 10.1021/acs.chemrev.1c01025
Abstract: One of the hallmark advances in our understanding of metalloprotein function is showcased in our ability to design new, non-native, catalytically active protein scaffolds. This review highlights progress and milestone achievements in the field of… read more here.
Keywords: electron transfer; novo; catalysis electron; transfer novo ... See more keywords
HelixGAN a deep-learning methodology for conditional de novo design of α-helix structures
Sign Up to like & getrecommendations! Published in 2023 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btad036
Abstract: Abstract Motivation Protein and peptide engineering has become an essential field in biomedicine with therapeutics, diagnostics and synthetic biology applications. Helices are both abundant structural feature in proteins and comprise a major portion of bioactive… read more here.
Keywords: novo; helixgan deep; methodology; design ... See more keywords
De novo assembly of viral quasispecies using overlap graphs.
Sign Up to like & getrecommendations! Published in 2017 at "Genome research"
DOI: 10.1101/gr.215038.116
Abstract: A viral quasispecies, the ensemble of viral strains populating an infected person, can be highly diverse. For optimal assessment of virulence, pathogenesis, and therapy selection, determining the haplotypes of the individual strains can play a… read more here.
Keywords: savage; overlap graphs; viral quasispecies; reference ... See more keywords
Tracing the De Novo Origin of Protein-Coding Genes in Yeast
Sign Up to like & getrecommendations! Published in 2018 at "mBio"
DOI: 10.1128/mbio.01024-18
Abstract: ABSTRACT De novo genes are very important for evolutionary innovation. However, how these genes originate and spread remains largely unknown. To better understand this, we rigorously searched for de novo genes in Saccharomyces cerevisiae S288C… read more here.
Keywords: spread fixation; birth; novo genes; novo ... See more keywords
De novo X-linked Alport syndrome in a 3-year-old girl
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-230183
Abstract: Alport syndrome (AS) is an inherited kidney disease that may lead to end-stage renal disease in early adult life. It is a clinically and genetically heterogeneous nephropathy. The possibility of a patient with haematuria or… read more here.
Keywords: alport syndrome; year old; novo; old girl ... See more keywords
GRASShopPER—An algorithm for de novo assembly based on GPU alignments
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0202355
Abstract: Next generation sequencers produce billions of short DNA sequences in a massively parallel manner, which causes a great computational challenge in accurately reconstructing a genome sequence de novo using these short sequences. Here, we propose… read more here.
Keywords: novo assembly; grasshopper algorithm; based gpu; assembly based ... See more keywords
1021-P: HbA1c Levels and Rates of Hypoglycemia with Insulin Degludec U200 and Insulin Glargine U300 Stratified by Renal Function Subgroups: Post Hoc Analysis from the CONCLUDE Trial
Sign Up to like & getrecommendations! Published in 2020 at "Diabetes"
DOI: 10.2337/db20-1021-p
Abstract: CONCLUDE was a randomized, open-label, treat-to-target trial in participants with T2D, who received basal insulin ± oral antihyperglycemic drugs (OADs) and had ≥1 baseline hypoglycemia risk factors, including moderate renal impairment. Participants were randomized to… read more here.
Keywords: lilly company; eli lilly; novo; self ... See more keywords
Icolos: a workflow manager for structure-based post-processing of de novo generated small molecules
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.26434/chemrxiv-2022-sjcp3
Abstract: SUMMARY We present Icolos, a workflow manager written in Python as a tool for automating complex structure-based workflows for drug design. Icolos can be used as a standalone tool, for example in virtual screening campaigns,… read more here.
Keywords: novo; workflow manager; structure; icolos workflow ... See more keywords
De Novo Detrusor Underactivity and Other Urodynamic Findings after Radical Prostatectomy: A Systematic Review
Sign Up to like & getrecommendations! Published in 2022 at "Medicina"
DOI: 10.3390/medicina58030381
Abstract: Background and objectives: The aim of this systematic review is to evaluate the impact of radical prostatectomy (RP) on bladder function, with special attention towards detrusor underactivity investigated with the means of urodynamic evaluation. Materials… read more here.
Keywords: systematic review; novo; radical prostatectomy; detrusor underactivity ... See more keywords
PyDamage: automated ancient damage identification and estimation for contigs in ancient DNA de novo assembly
Sign Up to like & getrecommendations! Published in 2021 at "PeerJ"
DOI: 10.7717/peerj.11845
Abstract: DNA de novo assembly can be used to reconstruct longer stretches of DNA (contigs), including genes and even genomes, from short DNA sequencing reads. Applying this technique to metagenomic data derived from archaeological remains, such… read more here.
Keywords: novo assembly; dna; ancient dna; pydamage ... See more keywords