Maladies génétiques d’expression pédiatrique

• Article dans une revue

Tetraploidy in cancer: Diagnostic and therapeutic perspectives

Aline Lessa, Romain Levergeois, Javier Muños-Garcia, Joshua Mountford, Jorge William Vargas-Franco, Denis Cochonneau, Axelle Renodon-Cornière, Marie-Françoise Heymann, Irina Giurgea, Dominique Heymann, Frédéric Lézot

Tetraploidy, defined as a cell state containing four complete sets of chromosomes, is a major event in cancer development and progression. This review first presents the mechanisms of formation of tetraploid cells that involve five main pathways: endoreduplication bypass, DNA re-replication,…

Biochemical Pharmacology, 2026, 251, pp.118157. ⟨10.1016/j.bcp.2026.118157⟩. ⟨hal-05700594⟩

• Article dans une revue

Comment on Korakas et al. 780G Hybrid Closed-Loop Pump as Adjunct to Metreleptin in Lipodystrophy-Associated Diabetes: Three Case Observations

Sophie Lamothe, Nathalie Bourcigaux, Camille Vatier, Sophie Christin-Maitre, Corinne Vigouroux, Bruno Donadille

Abstract MODY (Maturity-Onset Diabetes of the Young) is characterized by autosomal dominant mode of inheritance, early onset of diabetes in the absence of autoimmunity directed to pancreatic β-cells, impaired insulin secretory capacity, however, maintained over time, and extra-pancreatic…

Diabetes Care, 2026, 49 (7), pp.e136-e137. ⟨10.2337/dc26-0811⟩. ⟨hal-05726651⟩

• Article dans une revue

Mapping of class II HLA restriction of SepSecS-specific CD4 T cell epitopes in autoimmune hepatitis.

Thomas Guinebretière, Alexandra Garcia, Chuang Dong, Laura Bernier, Virginie Huchet, Pierre-Jean Gavlovsky, Laurine Gil, Sakina Ado, Léa David, Caroline Chevalier, Jean-Paul Judor, Béatrice Clémenceau, Marion Khaldi, Edouard Bardou-Jacquet, Laure Elkrief, Adrien Lannes, Christine Silvain, Matthieu Schnee, Florence Tanne, Sara Lemoinne, Eleonora de Martin, Aurélie Plessier, Fabienne Vavasseur, David-Axel Laplaud, William Kwok, Sophie Brouard, Jean-François Mosnier, Jérôme Gournay, Pierre Milpied, Sophie Conchon, Amédée Renand

Background & aims: Autoreactive CD4 T cells, recognizing liver-self-antigens such as SepSecS, are potentially main drivers of the chronic inflammatory response during autoimmune hepatitis (AIH). Previous studies have uncovered SepSecS epitopes often associated with HLA-DRB1*03 or HLA-DRB1*…

JHEP Reports Innovation in Hepatology, 2026, pp.101952. ⟨10.1016/j.jhepr.2026.101952⟩. ⟨inserm-05687559⟩

• Article dans une revue

How genetic/genomic/epigenetic changed or will change the diagnosis and management of endocrine disorders?

Luca Persani, Sophie Christin-Maitre, Philippe Chanson, Lionel Groussin

Annales d'Endocrinologie = Annals of Endocrinology, 2026, 87 (3), pp.102550. ⟨10.1016/j.ando.2026.102550⟩. ⟨hal-05707354⟩