Fiche publication
Date publication
décembre 2014
Journal
Obesity (Silver Spring, Md.)
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MEYRE David
Tous les auteurs :
Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A
Lien Pubmed
Résumé
Several deletions of chromosome 6q, including SIM1, were reported in obese patients with developmental delay. Furthermore, rare loss-of-function SIM1 mutations were shown to contribute to severe obesity, yet the role of these mutations in developmental delay remained unclear. Here, SIM1 in children with neurodevelopmental abnormalities was screened and the functional effect of the identified mutations was investigated.
Mots clés
Basic Helix-Loop-Helix Transcription Factors, genetics, Child, DNA Mutational Analysis, Developmental Disabilities, complications, Female, Humans, Luciferases, genetics, Male, Obesity, Morbid, complications, Phenotype, Repressor Proteins, genetics, Transcriptional Activation
Référence
Obesity (Silver Spring). 2014 12;22(12):2621-4
