Institut Biomédical du Val de Bièvre

Domaines scientifiques déclarés au RNSR

Mots-clés des publications HAL repérées

Publications HAL récentes repérées

• RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy · 2026

  Résumé de la publication : Abstract Context Hypogonadotropic hypogonadism (HH) with severe ataxia, impotence, and dementia has been reported in a handful of patients carrying RNF216 gene variants. However, the underlying molecular mechanism explaining this complex phenotype remains unclear to date. RNF216 encodes a “RING-between-RING”(RBR)-class E3 ubiquitin…

• SH2B3 Loss of Function Variants Are Potential Drivers of Severe Thrombocytosis · 2024

  Résumé de la publication : Introduction: LNK/SH2B3 adaptor protein is an important negative regulator of cytokine signaling pathways in the hematopoietic and vascular system. The identification of acquired and germline SH2B3 mutations alone or in co-existence with known driver mutations in myeloid and lymphoid malignancies, autoimmune and…

• A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance · 2024

  Résumé de la publication : Abstract Objective Glucocorticoid resistance is a rare endocrine disease caused by variants of the NR3C1 gene encoding the glucocorticoid receptor (GR). We identified a novel heterozygous variant (GR R569Q) in a patient with uncommon reversible glucocorticoid resistance syndrome. Methods We performed ex…

• Characterization of a novel variant in the NR3C1 gene: differentiating glucocorticoid resistance from Cushing Syndrome · 2024

  Résumé de la publication : Abstract Introduction Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare endocrine disease caused by loss-of-function variants of the NR3C1 gene encoding the Glucocorticoid Receptor. We describe a novel heterozygous missense variant (NM_000176.3, c.1330T>G, p.Phe444Val) within the DNA Binding Domain. Clinical case…

• Spinal cord injury reprograms muscle fibroadipogenic progenitors to form heterotopic bones within muscles · 2022

  Résumé de la publication : The cells of origin of neurogenic heterotopic ossifications (NHOs), which develop frequently in the periarticular muscles following spinal cord injuries (SCIs) and traumatic brain injuries, remain unclear because skeletal muscle harbors two progenitor cell populations: satellite cells (SCs), which are myogenic, and…