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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Author Correction: The interferon-inducible isoform of NCOA7 inhibits endosome-mediated viral entry

Tomas Doyle
Olivier Moncorgé
Michael H. Malim
Amendments and Corrections22 Jan 2019
Nature Microbiology

Volume: 4, P: 539
Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs

Genome-wide CRISPR knockout and activation screens in Calu-3 lung cells and Caco-2 colorectal cells identify host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs.

Antoine Rebendenne
Priyanka Roy
Caroline Goujon
Research25 Jul 2022
Nature Genetics

Volume: 54, P: 1090-1102
Non-AUG HIV-1 uORF translation elicits specific T cell immune response and regulates viral transcript expression

Here, integrating ribosome profiling, RNA-seq and proteomics to reveal transcriptional and post-translational regulation in HIV-infected T cells, the authors show that non-AUG translation of viral upstream ORFs elicits distinct immune responses and regulates viral gene expression in a DDX3-dependent manner.

Emmanuel Labaronne
Didier Décimo
Emiliano P. Ricci
ResearchOpen Access18 Feb 2025
Nature Communications

Volume: 16, P: 1-22
The interferon-inducible isoform of NCOA7 inhibits endosome-mediated viral entry

The interferon-inducible short isoform of human nuclear receptor coactivator 7 (NCOA7) inhibits influenza virus entry into the cytoplasm by interacting with and stimulating the activity of the vacuolar H⁺-ATPase, which leads to inhibition of viral and endosomal membrane fusion.

Tomas Doyle
Olivier Moncorgé
Michael H. Malim
Research26 Nov 2018
Nature Microbiology

Volume: 3, P: 1369-1376
HIV-1 and interferons: who's interfering with whom?

In this Review, Malim and colleagues discuss the evidence that type I interferons (IFNs) can control HIV-1 replicationin vivoand debate the controversial role of IFNs in promoting the pathological sequelae of chronic HIV-1 infection.

Tomas Doyle
Caroline Goujon
Michael H. Malim
Reviews27 Apr 2015
Nature Reviews Microbiology

Volume: 13, P: 403-413
Human MX2 is an interferon-induced post-entry inhibitor of HIV-1 infection

Here, a protein known as MX2 is shown to be a major effector of interferon-α-mediated resistance to HIV-1 infection: susceptibility of the HIV-1 virus to inhibition by MX2 is dictated by the Capsid region of the viral Gag protein, and inhibition occurs at a late post-entry step of infection.

Caroline Goujon
Olivier Moncorgé
Michael H. Malim
Research18 Sept 2013
Nature

Volume: 502, P: 559-562
The Rosa genome provides new insights into the domestication of modern roses

High-quality genome assembly of diploid Rosa chinensis and resequencing of major genotypes highlights the origin of modern rose cultivars and provides insights into color biosynthesis and scent pathways.

Olivier Raymond
Jérôme Gouzy
Mohammed Bendahmane
ResearchOpen Access30 Apr 2018
Nature Genetics

Volume: 50, P: 772-777
A simple, versatile and efficient method to genetically modify human monocyte-derived dendritic cells with HIV-1–derived lentiviral vectors

Grégory Berger
Stéphanie Durand
Andrea Cimarelli
Protocols19 May 2011
Nature Protocols

Volume: 6, P: 806-816

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Author Correction: The interferon-inducible isoform of NCOA7 inhibits endosome-mediated viral entry

Bidirectional genome-wide CRISPR screens reveal host factors regulating SARS-CoV-2, MERS-CoV and seasonal HCoVs

Non-AUG HIV-1 uORF translation elicits specific T cell immune response and regulates viral transcript expression

The interferon-inducible isoform of NCOA7 inhibits endosome-mediated viral entry

HIV-1 and interferons: who's interfering with whom?

Human MX2 is an interferon-induced post-entry inhibitor of HIV-1 infection

The Rosa genome provides new insights into the domestication of modern roses

A simple, versatile and efficient method to genetically modify human monocyte-derived dendritic cells with HIV-1–derived lentiviral vectors

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