Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details
Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.
Mohammed I et al.
International Journal of Molecular Sciences, 2026
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Leptin-Melanocortin pathway variants and gastric emptying in patients with obesity.
Cifuentes L et al.
Neurogastroenterology and Motility, 2024
Type 2 Diabetes Remission in Patients with Heterozygous Variants in the Leptin-Melanocortin Pathway after Roux-en-Y Gastric Bypass: A Matched Case-Control Study.
Anazco D et al.
Obesity Surgery, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants
Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.
Campos A et al.
Obesity Surgery, 2022
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
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM et al.
Cold Spring Harbor Molecular Case Studies, 2017
Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.
Stanikova D et al.
Plos One, 2017
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
Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Ramachandrappa S et al.
The Journal of Clinical Investigation, 2013
Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Swarbrick MM et al.
Obesity (silver Spring, Md.), 2011
Select a paper to view details