📇 Rhumatologue · DAMPMART · (77) · Salarié

M HERVE YVOIS

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Auteur de référence en rhumatologie
50 articles scientifiques publiés — un praticien à la pointe de la recherche
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65.4 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 DAMPMART (77)SalariéRPPS 10000661479

✨ Génération du profil synthétique IA en cours…

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Top publications · les plus citées

Protein and genomic language models uncover the unexplored diversity of bacterial immunity

Science (New York, N.Y.) · 2026

📚 2 citations

Lire l'abstract Crossref ↓

The bacterial pangenome contains a vast diversity of antiphage systems, whose overall extent is still unknown. In this study, we developed complementary machine learning approaches to systematically predict antiphage function from genomic context, protein sequence, or their combination, achieving up to 99% precision and 92% recall. We validated these models experimentally in Escherichia and Streptomyces with the discovery of 12 antiphage systems. Applied to over 32,000 bacterial genomes, these models expand the predicted antiphage repertoire, with ~1.5% of bacterial genomes devoted to defense and more than 85% of predicted protein families remaining uncharacterized. We provide an interactive catalog of more than 19,000 candidate operon families for experimental follow-up. Together, these findings show that most molecular diversity in bacterial immunity remains uncharacterized and provide a foundation for its systematic exploration.

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults

Stroke · 2026

📚 2 citations

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BACKGROUND: Cerebral small vessel disease (CSVD) is a major cause of stroke and vascular cognitive impairment, yet its mechanisms remain incompletely understood. While heterozygous point mutations in COL4A1 and COL4A2 are established monogenic cause of CSVD, the contribution of copy number gains involving these 2 genes has only recently been recognized. We aimed to define the clinical and radiological spectrum of COL4A1/2 duplications and triplications in adults. METHODS: We report 7 adult probands carrying duplications or triplications of COL4A1 and COL4A2 , in whom no pathogenic variants were identified in other known CSVD genes. Targeted high-throughput sequencing, quantitative multiplex polymerase chain reaction of short fluorescent fragments, and SNP arrays were used to confirm and characterize genomic rearrangements spanning the 13q33q34 region. RESULTS: Genomic rearrangements ranged from 328 kb to 11.8 Mb, involving complete or partial duplication/triplication of COL4A1/2 . Patients presented heterogeneous cerebrovascular manifestations, including ischemic and hemorrhagic events, motor impairment, and cognitive decline. Brain magnetic resonance imaging consistently showed extensive white matter hyperintensities, lacunes (particularly in the pons), microbleeds, and, in some cases, saccular aneurysms or arterial dolichoectasia. Only 2 probands had a positive family history of CSVD. CONCLUSIONS: This large series confirms the pathogenicity of COL4A1/2 duplications and triplications in adult-onset CSVD. Phenotypic variability likely reflects differences in duplication/triplication size, gene content, and modifying factors. Our findings highlight a distinct cerebral-only phenotype linked to gene dosage–related overexpression and underscore the importance of screening for copy number variations in patients with otherwise unexplained cerebral microangiopathy, even in the absence of a family history.

Biomarkers of Histological Response in Lanifibranor-treated Patients With Metabolic Dysfunction-associated Steatohepatitis

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025

📚 2 citations🩺 Clinique

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M HERVE YVOIS

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Top publications · les plus citées

Publications scientifiques (50) — classées par pathologie

Transversal31

Revue générale9

Génétique4

Essai clinique2

Gériatrie1

Ostéoporose1

Pédiatrie1

Revue / méta-analyse1

Rhumatisme psoriasique1

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