Associated Papers
Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.
Luppino G et al.
Current Issues in Molecular Biology, 2026
Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.
Mohammed I et al.
International Journal of Molecular Sciences, 2026
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Blackburn PR et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.
Cheon CK
Annals of Pediatric Endocrinology & Metabolism, 2016
Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
Montagne L et al.
Obesity (silver Spring, Md.), 2014
Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
Sullivan AE et al.
The Biochemical Journal, 2014
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A et al.
Diabetes Care, 2014
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
Bonnefond A et al.
The Journal of Clinical Investigation, 2013
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