Associated Papers
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
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
Beneficial Effects of Setmelanotide in a 5-Year-Old Boy With POMC Deficiency and on His Caregivers.
Dubern B et al.
Jcem Case Reports, 2023
Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide.
Wabitsch M et al.
Journal of the Endocrine Society, 2022
Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System.
Puder L 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
Rare deleterious germline variants and risk of lung cancer.
Liu Y et al.
Npj Precision Oncology, 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
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
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
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 triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
Huebner A et al.
Endocrine Research, 2004
New insights into the molecular basis of the triple A syndrome.
Huebner A et al.
Endocrine Research, 2002
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug K et al.
Human Molecular Genetics, 2001