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Article
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
The DNA polymerase δ complex (PolD), comprising catalytic subunit POLD1 and accessory subunits POLD2, POLD3, and POLD4, is essential for DNA synthesis and is central to genome integrity. We identified, by whol...
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Article
Open AccessIntracellular BAPTA directly inhibits PFKFB3, thereby impeding mTORC1-driven Mcl-1 translation and killing MCL-1-addicted cancer cells
Intracellular Ca2+ signals control several physiological and pathophysiological processes. The main tool to chelate intracellular Ca2+ is intracellular BAPTA (BAPTAi), usually introduced into cells as a membrane-...
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Article
Open AccessA widely applicable and cost-effective method for specific RNA–protein complex isolation
Although methodological advances have been made over the past years, a widely applicable, easily scalable and cost-effective procedure that can be routinely used to isolate specific ribonucleoprotein complexes...
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Article
Open AccessFraC nanopores with adjustable diameter identify the mass of opposite-charge peptides with 44 dalton resolution
A high throughput single-molecule method for identifying peptides and sequencing proteins based on nanopores could reduce costs and increase speeds of sequencing, allow the fabrication of portable home-diagnos...
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Article
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation
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Open AccessTarget identification of small molecules using large-scale CRISPR-Cas mutagenesis scanning of essential genes
Unraveling the mechanism of action and molecular target of small molecules remains a major challenge in drug discovery. While many cancer drugs target genetic vulnerabilities, loss-of-function screens fail to ...
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Article
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity
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Correction: Corrigendum: Duplication of a promiscuous transcription factor drives the emergence of a new regulatory network
Nature Communications 5: Article number: 4868 (2014); Published 10 September 2014; Updated 26 February 2015. Two affiliations for Fyodor A. Kondrashov were omitted from this Article. The correct affiliations a...
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Open AccessAn integrated map of HIV genome-wide variation from a population perspective
The HIV pandemic is characterized by extensive genetic variability, which has challenged the development of HIV drugs and vaccines. Although HIV genomes have been classified into different types, groups, subty...
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Article
Open AccessDuplication of a promiscuous transcription factor drives the emergence of a new regulatory network
The emergence of new genes throughout evolution requires rewiring and extension of regulatory networks. However, the molecular details of how the transcriptional regulation of new gene copies evolves remain la...
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Article
Open AccessA rotation-translation invariant molecular descriptor of partial charges and its use in ligand-based virtual screening
Measures of similarity for chemical molecules have been developed since the dawn of chemoinformatics. Molecular similarity has been measured by a variety of methods including molecular descriptor based similar...
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Article
Open AccessFunctional conservation of HIV-1 Gag: implications for rational drug design
HIV-1 replication can be successfully blocked by targeting gag gene products, offering a promising strategy for new drug classes that complement current HIV-1 treatment options. However, naturally occurring po...
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Article
Rational design of small-molecule inhibitors of the LEDGF/p75-integrase interaction and HIV replication
Interaction between HIV-1 integrase and the cellular cofactor LEDGF/p75 is important for viral integration. Newly designed small molecules that block this interaction inhibit HIV replication, illustrating the ...
