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M NICOLAS JEANNISSON

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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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RPPS 10001194025

✨ Génération du profil synthétique IA en cours…

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Top publications · les plus citées

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Nature genetics · 2026

📚 4 citations🔓 Open Access📄 PDF gratuit ↗

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Abstract Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes RNU4-2 (ReNU syndrome), RNU5B-1 and RNU2-2 have been linked to dominant neurodevelopmental disorders (NDDs), revealing a large unexpected contribution of noncoding RNA genes to genetic diseases. Here, through international collaborations, we analyze systematically 200 potentially functional snRNA genes in a French cohort of 34,329 people with rare disorders. We report RNU2-2 variants in 141 individuals, including 35 with recurrent dominant pathogenic variants and 91 affected members from 73 families with biallelic variants. Recessive RNU2-2 NDD is at least twice as frequent as the dominant form and often involves a de novo variant in trans with an inherited allele, consistent with the high mutability of snRNA genes. Dominant and recessive RNU2-2 NDDs share overlapping clinical features, with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our results support a gradient-of-impact model bridging dominant and recessive inheritance, and establish RNU2-2 variants as a principal contributor to NDDs, nearly as prevalent as ReNU syndrome.

Urgent Endovascular Aortic Repair Requiring Coverage of the Left Subclavian Artery

The Thoracic and cardiovascular surgeon · 2026

📚 2 citations

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Abstract Evaluation of the optimal left subclavian artery (LSA) management during thoracic endovascular aortic repair (TEVAR) involving the distal aortic arch in an urgent setting. A total of 52 patients with acute aortic syndromes underwent TEVAR (March 2017 to May 2021) requiring proximal landing in the distal aortic arch. Decision for partial or complete LSA ostial endograft coverage, with or without additional bypassing, was made depending upon the aortic pathology and vascular anatomy. We focused on the patency of the circle of Willis and the unilateral dominance of one carotid or a vertebral artery: 35% underwent complete (complete LSA group) and 17% partial LSA coverage (partial LSA group), whereas in 48% the LSA was reached only by the bare springs of the endograft (control group). A total of 22% of the complete LSA group underwent LSA bypass before TEVAR, whereas 11% underwent cerebrospinal fluid drainage. Endpoints were 30-day and 1-year mortality, stroke, spinal cord ischemia (SCI), and malperfusion. Technical success was achieved in 96%. The endograft length was 171 ± 34 (complete LSA group) versus 151 ± 22 (partial LSA group) versus 181 ± 52 mm (control group), covering 6 ± 2 versus 5 ± 1 versus 7 ± 2 intercostal arteries. The 30-day mortality, stroke and SCI rates did not differ. One patient with arm malperfusion underwent LSA bypass post-TEVAR. After 1 year, aortic interventions occurred in 6 (complete LSA group) versus 22 (partial LSA group) versus 13% (control group). One-year mortality (0 vs. 0 vs. 8%), stroke (6 vs. 0 vs. 4%), and SCI (0 vs. 0 vs. 4%) were similar between groups. With an adequate analysis of vascular anatomy, coverage of the LSA for TEVAR is safe and may offer results similar to TEVAR starting distal to the LSA.

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

bioRxiv : the preprint server for biology · 2026

📚 1 citations🔓 Open Access

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ABSTRACT We developed a high content screening to investigate how Alzheimer disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Out of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently disrupted dendritic morphology and synaptic function. In human neuronal cultures (hNCs), PLCG2 downregulation also impaired synaptic function and increased Aβ levels and Tau phosphorylation. Very rare PLCG2 loss-of-function (LoF) variants were associated with a 10-fold increased AD risk. PLCG2 LoF carriers exhibit low mRNA/protein PLCG2/ PLCγ2 levels and the R953* LoF mutation compromised synaptic function and increased AD hallmarks in hNCs. Single nuclei RNAseq analyses confirmed that the downregulation of PLCG2 impacted pathways related to synaptic and neuronal functions, potentially through neurexin in neurons. In conclusion, PLCγ2 downregulation could increase AD risk by impairing synaptic functions and increasing the Aβ levels and Tau phosphorylation in neurons.

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M NICOLAS JEANNISSON

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Top publications · les plus citées

Publications scientifiques (50) — classées par pathologie

Transversal38

Essai clinique3

Épidémiologie & registres2

Pédiatrie2

Pharmacovigilance2

Vraie vie / RWE2

Génétique1

Gériatrie1

IA en rhumatologie1

Qualité de vie / PROMs1

Risque cardio-vasculaire1

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