Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.L37F
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POMC

NM_000939.4:p.L37F

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

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

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

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-RCWM1J

Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity.

Chiurazzi M et al.

International Journal of Molecular Sciences, 2020

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

The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.

Creemers JW et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

Lee YS et al.

Cell Metabolism, 2006

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."