Associated Papers
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
38956946 (PubMed )
Supplement: supplement_1.pdf
Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review.
Van Dijck E et al.
Genes, 2022
Modulation of PC1/3 activity by a rare double-site homozygous mutation.
Ni Y et al.
Frontiers in Pediatrics, 2022
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
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
Pépin L et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Benzinou M et al.
Nature Genetics, 2008
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
Farooqi IS et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fat.
Mbikay M et al.
Developmental Biology, 2007
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Jackson RS et al.
The Journal of Clinical Investigation, 2003
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