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
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
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
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
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Stijnen P et al.
Endocrine Reviews, 2016
Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
Stijnen P et al.
International Journal of Obesity (2005), 2016
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
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Yourshaw M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2013
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Creemers JW et al.
Diabetes, 2012
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