A5104546543- Viral-associated cancers and disorders
- Immunodeficiency and Autoimmune Disorders
- Ubiquitin and proteasome pathways
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Telomeres, Telomerase, and Senescence
- Cytomegalovirus and herpesvirus research
- Lymphoma Diagnosis and Treatment
- Cell Adhesion Molecules Research
Assistance Publique – Hôpitaux de Paris
2018-2024
Inserm
2018-2024
Structure fédérative de recherche Necker
2018-2024
Centre National de la Recherche Scientifique
2018-2024
Institut Necker Enfants Malades
2024
Institut des Maladies Génétiques Imagine
2018
Telomeres are nucleoprotein structures at the end of chromosomes. The telomerase complex, constituted catalytic subunit TERT, RNA matrix hTR and several cofactors, including H/ACA box ribonucleoproteins Dyskerin, NOP10, GAR1, NAF1 NHP2, regulates telomere length. In humans, inherited defects in length maintenance responsible for a wide spectrum clinical premature aging manifestations pulmonary fibrosis (PF), dyskeratosis congenita (DC), bone marrow failure predisposition to cancer. NHP2...
Abstract Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk lymphoma. The genetic landscape ALPS includes mutations in FAS , FASLG FADD all associated with apoptosis deficiency, while the role CASP10 defect disease remains debated. In this study, we aimed assess impact variants on pathogenesis. We benefit from thousands analysis datasets performed our Institute’s...
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, assesses responsiveness peripheral monocytes to IL-10, we identified three unrelated Portuguese patients carrying two novel IL-10RB mutations. In the patients, sequencing genomic DNA same large deletion exon 3 precluded protein expression. This mutation was homozygous...