Associated Papers
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
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
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.
Qian Y et al.
Frontiers in Genetics, 2021
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
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Löffler D et al.
Molecular Metabolism, 2017
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Blanco EH et al.
Endocrinology, 2015
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
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
Select a paper to view details