Nature Search

The temporal gene expression landscape of rhabdomyolysis-induced acute kidney injury reveals the timing of complement activation

Kinetic analysis of rhabdomyolysis-induced acute kidney injury reveals early tubular injury and immune cell infiltration precede complement activation. Initial protective responses fail quickly, leading to escalating damage. Timing highlights need for early, multi-targeted therapies.

Anne Grunenwald
Idris Boudhabhay
Lubka T. Roumenina
ResearchOpen Access31 Dec 2025
Communications Biology

P: 1-13
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
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress

Cyclins A2 and E1 are known to regulate the cell cycle by promoting S phase entry and progression. Here, they identify an aggressive hepatocellular carcinoma subgroup exhibiting cyclin activation through various mechanisms and find this subgroup to display replication stress-induced structural rearrangements frequently activating TERT promoter.

Quentin Bayard
Léa Meunier
Eric Letouzé
ResearchOpen Access07 Dec 2018
Nature Communications

Volume: 9, P: 1-14
Antibody-mediated neutralization of galectin-3 as a strategy for the treatment of systemic sclerosis

Galectin-3 (Gal-3) has been proposed to have a pathogenic role in systemic sclerosis (SSc). Here, the authors identify a Gal-3-based transcriptomic signature associated with SSc severity in patients and demonstrate that Gal-3 blockade reduces the severity of SSc skin and lung lesions in murine models.

Céline Ortega-Ferreira
Perrine Soret
Frédéric De Ceuninck
ResearchOpen Access31 Aug 2023
Nature Communications

Volume: 14, P: 1-20
sST2 is a key outcome biomarker in COVID-19: insights from discovery randomized trial

David M. Smadja
Clément R. Massonnaud
Benjamin Leveau
ResearchOpen Access24 Apr 2025
Scientific Reports

Volume: 15, P: 1-16
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
ResearchOpen Access02 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-14
Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
Amendments and CorrectionsOpen Access21 Nov 2025
npj Parkinson's Disease

Volume: 11, P: 1
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Camille Engel
Michaela Rendek
Juliette Piard
Research25 Jun 2025
European Journal of Human Genetics

Volume: 33, P: 989-996
Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas

Jessica Zucman-Rossi and colleagues identify clonal integrations of adeno-associated virus type 2 (AAV2) in hepatocellular carcinomas. These AAV2 integrations occurred within known cancer driver genes, suggesting a pathogenic role of AAV2 in these patients.

Jean-Charles Nault
Shalini Datta
Jessica Zucman-Rossi
Research24 Aug 2015
Nature Genetics

Volume: 47, P: 1187-1193
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

Jessica Zucman-Rossi and colleagues report exome sequences of 243 hepatocellular carcinomas. They identify mutational signatures associated with specific risk factors such as alcohol, tobacco and aflatoxin B1 and find genetic alterations potentially targetable by FDA-approved drugs in 28% of the tumors.

Kornelius Schulze
Sandrine Imbeaud
Jessica Zucman-Rossi
Research30 Mar 2015
Nature Genetics

Volume: 47, P: 505-511
Subcellular antigen localization in commensal E. coli is critical for T cell activation and induction of specific tolerance

Eveline Bennek
Ana D. Mandić
Gernot Sellge
Research16 Oct 2018
Mucosal Immunology

Volume: 12, P: 97-107
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange-Line Bruel
Sophie Nambot
Christel Thauvin-Robinet
Research23 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1519-1531
Inflammatory hepatocellular adenomas developed in the setting of chronic liver disease and cirrhosis

Julien Calderaro
Jean C Nault
Jessica Zucman-Rossi
Research30 Oct 2015
Modern Pathology

Volume: 29, P: 43-50
Development of a real-time flexible multiphoton microendoscope for label-free imaging in a live animal

Guillaume Ducourthial
Pierre Leclerc
Frédéric Louradour
ResearchOpen Access17 Dec 2015
Scientific Reports

Volume: 5, P: 1-9
A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet
Thomas Rolland
Thomas Bourgeron
ResearchOpen Access23 Oct 2017
npj Genomic Medicine

Volume: 2, P: 1-9
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet
Thomas Rolland
Thomas Bourgeron
Amendments and CorrectionsOpen Access01 Jul 2019
npj Genomic Medicine

Volume: 4, P: 1

Search

The temporal gene expression landscape of rhabdomyolysis-induced acute kidney injury reveals the timing of complement activation

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

Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress

Antibody-mediated neutralization of galectin-3 as a strategy for the treatment of systemic sclerosis

sST2 is a key outcome biomarker in COVID-19: insights from discovery randomized trial

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

Subcellular antigen localization in commensal E. coli is critical for T cell activation and induction of specific tolerance

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Inflammatory hepatocellular adenomas developed in the setting of chronic liver disease and cirrhosis

Development of a real-time flexible multiphoton microendoscope for label-free imaging in a live animal

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Search

Quick links

Search

Filter By:

Search

Quick links