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
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
The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.
Shakya M et al.
Endocrinology, 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
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
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Stijnen P et al.
Endocrine Reviews, 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
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