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M Philippe DAUSQUE

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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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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.

The Impact of Metabolic Complications in Pregnancy on Later Life Maternal Cardiometabolic Health: Findings From the ROLO Longitudinal Cohort Study

BJOG : an international journal of obstetrics and gynaecology · 2026

📚 2 citations🔓 Open Access📄 PDF gratuit ↗

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ABSTRACT Objective To explore associations between pregnancy metabolic complications and maternal cardiometabolic health 10 years postpartum. Design Prospective Longitudinal Cohort Study following a randomised controlled trial. Setting Single‐centre. Population Pregnancy metabolic complication (pregnancy‐induced hypertension, impaired glucose tolerance, or gestational diabetes) versus an uncomplicated pregnancy in secundigravid women who previously delivered a macrosomic infant. Methods Health and lifestyle data were obtained from 422 women during pregnancy and again 10 years postpartum. Anthropometry, dual‐energy X‐ray absorptiometry scans, and non‐fasting blood samples were recorded 10 years postpartum. Unadjusted and adjusted linear regression explored associations between pregnancy metabolic complications and cardiometabolic markers with adjustment for potential confounders (study group allocation, age at follow‐up, maternal ethnicity, early pregnancy body mass index (BMI), use of cardiometabolic medications, maternal smoking at 10 years postpartum, and socio‐economic status). Main Outcome Measures Cardiometabolic risk profile 10 years postpartum. Results Of 422 women, 27.7% ( n = 117) experienced a metabolic complication in pregnancy. Pregnancy metabolic complications were associated with greater postpartum weight retention ( ß = 1.72, 95% CI 0.08, 3.36), higher BMI ( ß = 0.70, 95% CI 0.09, 1.31), greater visceral adipose tissue mass ( ß = 0.12, 95% CI 0.01, 0.23), greater total cholesterol ( ß = 0.36, 95% CI 0.15, 0.58), greater LDL‐cholesterol ( ß = 0.29, 95% CI 0.09, 0.50), greater triglycerides ( ß = 0.06, 95% CI 0.03, 0.32), and greater glucose ( ß = 0.22, 95% CI 0.03, 0.40) at 10 years postpartum. Conclusions Pregnancy metabolic complications were associated with an altered cardiometabolic risk profile 10 years postpartum.

Anorexia nervosa symptoms are induced after specific gut microbiota dysbiosis transfer in germ-free mice

Gut microbes · 2025

📚 2 citations🔓 Open Access

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M Philippe DAUSQUE

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Publications scientifiques (50) — classées par pathologie

Transversal30

Revue générale9

Épidémiologie & registres3

Biomarqueurs / Auto-Ac2

Microbiote2

Pédiatrie2

Case report / série1

csDMARDs1

Économie santé1

Essai clinique1

Génétique1

Qualité de vie / PROMs1

Santé mentale / fatigue1

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