Associated Papers
Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.
Fan X et al.
Genome Biology, 2025
Generation of human induced pluripotent stem cell line from an obesity patient with POMC deficiency due to POMC:W84X mutation.
Ludwik KA et al.
Stem Cell Research, 2025
Generation of an isogenic iPSC line via CRISPR correction of the POMC:W84X mutation for monogenic obesity modeling.
Ludwik KA et al.
Stem Cell Research, 2025
Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.
Vitellius G et al.
European Journal of Endocrinology, 2025
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
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.
Le Collen L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.
Viakhireva I et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases.
Graves LE et al.
Journal of Paediatrics and Child Health, 2021
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.
Gregoric N et al.
Frontiers in Endocrinology, 2021
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 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
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
Çetinkaya S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation.
Anisimova AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.
Aslan IR et al.
International Journal of Obesity (2005), 2014