Roseline Caumes
A5059161714- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Chromatin Remodeling and Cancer
- Protein Degradation and Inhibitors
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- Heat shock proteins research
Centre Hospitalier Universitaire de Lille
2022-2025
Institut de Biologie de Lille
2018
Hôpital Robert-Debré
2015
Assistance Publique – Hôpitaux de Paris
2015
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report new neurodevelopmental disorder (NDD) with common features language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants UBAP2L , which encodes an essential regulator SG assembly. Ubap2l haploinsufficiency mouse led social cognitive impairments accompanied disrupted neurogenesis reduced formation during early brain development. On the basis...
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants core protein-folding machinery TRiC/CCT individuals with malformations, intellectual disability, seizures. The chaperonin TRiC is an obligate hetero-oligomer, identify seven its eight subunits, all which impair function or assembly through different mechanisms. Transcriptome proteome analyses patient-derived...
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) or without congenital malformation. Because aCGH interrogates the whole genome, there a risk of being confronted incidental findings (IF). In order to anticipate ethical issues IF generalization new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about situations they have faced regarding from aCGH. Sixty-five were...