Publications associées à Mouse Systems Genetics as a Prelude to Precision Medicine

Publications associées (39)

Genome-wide allele-specific expression in multi-tissue samples from healthy male baboons reveals the transcriptional complexity of mammals

Allele-specific expression (ASE) is pivotal in understanding the genetic underpinnings of phenotypic variation within species, differences in disease susceptibility, and responses to environmental factors. We processed 11 different tissue types collected f ...

2025

Secure and federated genome-wide association studies for biobank-scale datasets

Jean-Pierre Hubaux, Apostolos Pyrgelis

Sharing data across institutions for genome-wide association studies (GWAS) would enhance the discovery of genetic variation linked to health and disease1,2. However, existing data-sharing regulations limit the scope of such collaborations3. Although crypt ...

NATURE PORTFOLIO2025

Climate adaptive loci revealed by seascape genomics correlate with phenotypic variation in heat tolerance of the coral Acropora millepora

Oliver Michele Selmoni

One of the main challenges in coral reef conservation and restoration is the identification of coral populations resilient under global warming. Seascape genomics is a powerful tool to uncover genetic markers potentially involved in heat tolerance among la ...

Nature Research2024

Convalescent human plasma candidate reference materials protect against Crimean-Congo haemorrhagic fever virus (CCHFV) challenge in an A129 mouse model

Frank William Charlton

Crimean-Congo Haemorrhagic Fever Virus (CCHFV) is spread by infected ticks or direct contact with blood, tissues and fluids from infected patients or livestock. Infection with CCHFV causes severe haemorrhagic fever in humans which is fatal in up to 83 % of ...

Elsevier2024

Alpha1-antitrypsin improves survival in murine abdominal sepsis model by decreasing inflammation and sequestration of free heme

Florian Maria Wurm

Background Excessive inflammation, hemolysis, and accumulation of labile heme play an essential role in the pathophysiology of multi-organ dysfunction syndrome (MODS) in sepsis. Alpha1-antitrypsin (AAT), an acute phase protein with heme binding capacity, i ...

Frontiers Media Sa2024

Bcl-xL targeting eliminates ageing tumor-promoting neutrophils and inhibits lung tumor growth

Freddy Radtke, Etienne Meylan, Nadine Fournier, Amber Dawn Bowler, Justine Pascual, Anita Bodac

Elevated peripheral blood and tumor-infiltrating neutrophils are often associated with a poor patient prognosis. However, therapeutic strategies to target these cells are difficult to implement due to the life-threatening risk of neutropenia. In a genetica ...

Springernature2024

High-content phenotypic analysis of a C. elegans recombinant inbred population identifies genetic and molecular regulators of lifespan

Johan Auwerx, Laurent Mouchiroud, Maroun Bou Sleiman, Xiaoxu Li, Yang Li, Elena Katsyuba, Jean-David Horacio Morel, Wen Gao, Amélia Lalou, Jonathan Allen Sulc, Gaby El Alam

Lifespan is influenced by complex interactions between genetic and environmental factors. Studying those factors in model organisms of a single genetic background limits their translational value for humans. Here, we mapped lifespan determinants in 85 C. e ...

2024

Cyclo His-Pro Attenuates Muscle Degeneration in Murine Myopathy Models

Johan Auwerx, Xiaoxu Li, Tanes Imamura de Lima, Alessia De Masi, Keno Strotjohann

Among the inherited myopathies, a group of muscular disorders characterized by structural and metabolic impairments in skeletal muscle, Duchenne muscular dystrophy (DMD) stands out for its devastating progression. DMD pathogenesis is driven by the progress ...

Wiley2024

The role of LRRK2 in lung adenocarcinoma

Aspasia Gkasti

Lung cancer is the leading cause of cancer-related deaths worldwide and the most common lung cancer subtype is lung adenocarcinoma (LUAD). Frequently mutated genes involve activating mutations in KRAS and loss of function mutations in TP53. LUADs primarily ...

EPFL2024

Mechanism of KRAS-driven T cell infiltration in colorectal cancer

Amber Dawn Bowler

Colorectal cancer is the second-leading cause of cancer death worldwide. Early-stage disease can be detected with preventative medical screening and is treatable with surgical resection. Sixty-percent of patients, however, are diagnosed with advanced-stage ...

EPFL2023

Enabling Stroke Theranostics with Hyperpolarized Magnetic Resonance

Thanh Phong Kevin Lê

The severe social and economic burden of stroke is a strong motivation for the exploration of innovative medical approaches. In this context, magnetic resonance (MR) of hyperpolarized (HP) molecular agents via dissolution dynamic nuclear polarization (dDNP ...

EPFL2023

Upregulation of the ERR γ-VDAC1 axis underlies the molecular pathogenesis of pancreatitis

Johan Auwerx, Changmyung Oh

Emerging evidence suggest that transcription factors play multiple roles in the development of pancreatitis, a necroinflammatory condition lacking specific therapy. Estrogen-related receptor γ (ERRγ), a pleiotropic transcription factor, has been reported t ...

National Academy of Sciences2023

Influence of DNP Polarizing Agents on Biochemical Processes: TEMPOL in Transient Ischemic Stroke

Mor-Miri Mishkovsky, Jean-Noël Hyacinthe, Thanh Phong Kevin Lê, Mario Gaetano Lepore, Lara Buscemi Estefanell

Hyperpolarization of 13C by dissolution dynamic nuclear polarization (dDNP) boosts the sensitivity of magnetic resonance spectroscopy (MRS), making possible the monitoring in vivo and in real time of the biochemical reactions of exogenously infused 13C-lab ...

2023

Hyperthermic intrathoracic chemotherapy to control malignant pleural mesothelioma

Yameng Hao

OBJECTIVE: Malignant pleural mesothelioma (MPM) is a rare disease that has a poor response to conventional therapy. Hyperthermic intrathoracic chemotherapy (HITOC), a treatment combining fever-range hyperthermia with intrapleural cisplatin chemotherapy, ha ...

EPFL2023

Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity

Simona Frateschi

The serine proteases CAP1/Prss8 and CAP3/St14 are identified as ENaC channel-activating proteases in vitro, highly suggesting that they are required for proteolytic activation of ENaC in vivo. The present study tested whether CAP3/St14 is relevant for rena ...

MDPI2023

A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits

Jacques Fellay, Christian Axel Wandall Thorball

Infectious diseases are particularly challenging for genome-wide association studies (GWAS) because genetic effects from two organisms (pathogen and host) can influence a trait. Traditional GWAS assume individual samples are independent observations. Howev ...

OXFORD UNIV PRESS2022

Host genomics of SARS-CoV-2 infection

Jacques Fellay, Christian Axel Wandall Thorball

SARS-CoV-2 infected a large fraction of humans in the past 2 years. The clinical presentation of acute infection varies greatly between individuals, ranging from asymptomatic or mild to life-threatening COVID-19 pneumonia with multi-organ complications. De ...

SPRINGERNATURE2022

Towards mouse genetic-specific RNA-sequencing read mapping

Maxime Jan

Genetic variations affect behavior and cause disease but understanding how these variants drive complex traits is still an open question. A common approach is to link the genetic variants to intermediate molecular phenotypes such as the transcriptome using ...

2022

Molecular Regulation of Muscle Stem Cell Fate during Skeletal Muscle Regeneration and Aging

Sara Ancel

Muscle stem cells (MuSCs) are the primary source of myogenic progenitors during muscle repair and are essential for the long-term regenerative capacity of skeletal muscle. Following myofiber injury, MuSCs transition from a quiescent to an activated state, ...

EPFL2022

Boosting dendritic cell nanovaccines

Michele De Palma, Yahya Mohammadzadeh

A preclinical study reports a platform for the generation of dendritic cell-derived nanovesicles with enhanced immunostimulatory function, which demonstrate promising antitumoural activity in mouse models and might overcome some of the shortcomings of earl ...

Nature Portfolio2022