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
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
Coban MA et al.
Biomolecules, 2020
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
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
Akıncı A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf
Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.
Stanikova D et al.
Plos One, 2017
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
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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