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
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
Aerts L et al.
Genes, 2021
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
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.st1.xlsx › Supp_Table2B
PCSK1 Variants and Human Obesity.
Ramos-Molina B et al.
Progress in Molecular Biology and Translational Science, 2016
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Blanco EH et al.
Endocrinology, 2015
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
Wilschanski M et al.
Plos One, 2014
Select a paper to view details