dUTPase ( DUT ) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure

Autor: Lorella Marselli, Sophie Romero, Cécile Julier, Baz Baz, Jean-François Gautier, Anne Philippi, Céline Besse, Sarah Ivanoff, Reinaldo Sousa Dos Santos, Piero Marchetti, Marc Nicolino, Decio L. Eizirik, Gérard Socié, Julien Masliah-Planchon, Delphine Bacq, Mathilde Daures, Laura Marroquí, Jean Soulier, Valérie Senée

Publikováno v: Diabetes
Diabetes, 2017, 66 (4), pp.1086-1096. ⟨10.2337/db16-0839⟩
Diabetes, American Diabetes Association, 2017, 66 (4), pp.1086-1096. ⟨10.2337/db16-0839⟩

We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected sibling

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d097b258d1c7a77f49b7cd1915b341
https://hal.science/hal-01827502

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Autor: Andrew T. Hattersley, Anne Philippi, Mathilde Daures, Cécile Julier, Céline Derbois, Mariana Igoillo-Esteve, Valérie Senée, Decio L. Eizirik, Heather P. Harding, Miriam Cnop, Baroj Abdulkarim, Daniel Andrade Da Cunha, Marc Nicolino, Sophie Romero, Nathalie Bendelac, Miguel Lopes, David Ron

Publikováno v: Diabetes
Diabetes, American Diabetes Association, 2015, 64 (11), pp.3951-62. ⟨10.2337/db15-0477⟩
Europe PubMed Central

International audience; Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2alpha (eIF2alpha) are associated with pancreatic beta-cell failure and diabetes. Here, we report the first homozygous m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea67a5465bc32d9a1fcef631f2f8ff4
https://hal.archives-ouvertes.fr/hal-01850506