Associated Papers
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1
Type 2 Diabetes-Associated Genetic Polymorphisms as Potential Disease Predictors.
Witka BZ et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2019
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf
A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function.
Dash B et al.
Neuropharmacology, 2014
A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity.
Mencarelli M et al.
European Journal of Human Genetics : Ejhg, 2012
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