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Functional characterization of melanocortin 2 receptor (Mc2r) from a lobe-finned fish (Protopterus annectens) and insights into the molecular evolution of melanocortin receptors.
Shaughnessy CA, Le K, Myhre VD, Dores RM. Shaughnessy CA, et al. Gen Comp Endocrinol. 2023 Nov 1;343:114356. doi: 10.1016/j.ygcen.2023.114356. Epub 2023 Aug 9. Gen Comp Endocrinol. 2023. PMID: 37562700
Here, we offer the first molecular and functional characterization of an Mc2r from a lobe-finned fish, the West African lungfish (Protopterus annectens). Plasmids containing cDNA constructs of lungfish (lf) Mc2r and Mrap1 were expressed in mammalian and zebrafish ce …
Here, we offer the first molecular and functional characterization of an Mc2r from a lobe-finned fish, the West African lungfish (Pro …
The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families.
Wu R, Gragnoli C. Wu R, et al. J Ovarian Res. 2024 Dec 5;17(1):242. doi: 10.1186/s13048-024-01567-1. J Ovarian Res. 2024. PMID: 39633478 Free PMC article.
We have recently reported the association of melanocortin receptor genes (MC1R, MC2R, MC3R, MC4R, and MC5R) with the risk of type 2 diabetes (T2D) and/or major depressive disorder (MDD). ...We identified 1 SNP in MC1R, 1 SNP in MC2R, 2 SNPs in MC3R, and 2 SNPs in MC …
We have recently reported the association of melanocortin receptor genes (MC1R, MC2R, MC3R, MC4R, and MC5R) with the risk of type 2 d …
Association and Genetic Expression between Genes Involved in HPA Axis and Suicide Behavior: A Systematic Review.
Hernández-Díaz Y, Genis-Mendoza AD, González-Castro TB, Tovilla-Zárate CA, Juárez-Rojop IE, López-Narváez ML, Nicolini H. Hernández-Díaz Y, et al. Genes (Basel). 2021 Oct 13;12(10):1608. doi: 10.3390/genes12101608. Genes (Basel). 2021. PMID: 34681002 Free PMC article.
Ten genes were identified: FKBP5, CRH, CRHBP, CRHR1, CRHR2, NR3C1, NR3C2, SKA2, MC2R, and POMC. CONCLUSIONS: Our findings suggest that key stress pathway genes are significantly associated with SB and show potential as biomarkers for SB....
Ten genes were identified: FKBP5, CRH, CRHBP, CRHR1, CRHR2, NR3C1, NR3C2, SKA2, MC2R, and POMC. CONCLUSIONS: Our findings suggest tha …
Gene-environment interaction between HPA-axis genes and trauma exposure in the suicide behavior: A systematic review.
González-Castro TB, Juárez-Rojop IE, Tovilla-Zárate CA, Ovando-Ricárdez JA, Hernández-Díaz Y, López-Narváez ML, Genis-Mendoza AD, Rodríguez-Pérez C. González-Castro TB, et al. J Psychiatr Res. 2023 Aug;164:162-170. doi: 10.1016/j.jpsychires.2023.06.011. Epub 2023 Jun 15. J Psychiatr Res. 2023. PMID: 37352812
Gene-environment interaction was reported for CRHR1 (n = 6), CRHR2 (n = 2), FKBP5 (n = 2), and CRHBP (n = 1), however, for CRH, NR3C1, MC2R, and POMC genes no found gene-environment effects on SB. Trauma exposure could be one mechanism that links HPA-axis genes activity wi …
Gene-environment interaction was reported for CRHR1 (n = 6), CRHR2 (n = 2), FKBP5 (n = 2), and CRHBP (n = 1), however, for CRH, NR3C1, MC …
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A, Zariñán T, Jardón-Valadez E. Ulloa-Aguirre A, et al. Int J Mol Sci. 2021 Nov 15;22(22):12329. doi: 10.3390/ijms222212329. Int J Mol Sci. 2021. PMID: 34830210 Free PMC article. Review.
Several endocrine diseases due to inactivating mutations in GPCRs have been described, including X-linked nephrogenic diabetes insipidus, thyroid disorders, familial hypocalciuric hypercalcemia, obesity, familial glucocorticoid deficiency [melanocortin-2 receptor …
Several endocrine diseases due to inactivating mutations in GPCRs have been described, including X-linked nephrogenic diabetes insipidus, th …
Identification of genes associated with human-canine communication in canine evolution.
Tonoike A, Otaki KI, Terauchi G, Ogawa M, Katayama M, Sakata H, Miyasako F, Mogi K, Kikusui T, Nagasawa M. Tonoike A, et al. Sci Rep. 2022 Jun 9;12(1):6950. doi: 10.1038/s41598-022-11130-x. Sci Rep. 2022. PMID: 35680934 Free PMC article.
We examined gene polymorphisms in oxytocin, oxytocin receptor, melanocortin 2 receptor, and a Williams-Beuren syndrome-related gene (WBSCR17), as candidate genes of dog domestication. The single-nucleotide polymorphisms on melanocortin 2 …
We examined gene polymorphisms in oxytocin, oxytocin receptor, melanocortin 2 receptor, and a Williams-Beuren sy …
Abnormal DNA methylation within HPA-axis genes years after paediatric critical illness.
Coppens G, Vanhorebeek I, Güiza F, Derese I, Wouters PJ, Téblick A, Dulfer K, Joosten KF, Verbruggen SC, Van den Berghe G. Coppens G, et al. Clin Epigenetics. 2024 Feb 23;16(1):31. doi: 10.1186/s13148-024-01640-y. Clin Epigenetics. 2024. PMID: 38395991 Free PMC article.

Adjusting for technical variation and baseline risk factors and correcting for multiple testing (false discovery rate < 0.05), former PICU patients showed abnormal DNA methylation of 26 CpG sites (within CRHR1, POMC, MC2R, NR3C1, FKBP5, HSD11B1, SRD5A1, AKR1D1, DUSP1, T

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Adjusting for technical variation and baseline risk factors and correcting for multiple testing (false discovery rate < 0.05), former PIC

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Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.
Tresa A, Jahagirdar R, Deshpande R, Datar C. Tresa A, et al. BMJ Case Rep. 2025 Feb 16;18(2):e262013. doi: 10.1136/bcr-2024-262013. BMJ Case Rep. 2025. PMID: 39956565 Free PMC article.
On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin-2 receptor (MC2R) gene mutation. Subsequently, the baby was delivered late preterm, with hyperpigmentation. ...
On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin- …
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
Pons Fernández N, Moriano Gutiérrez A, Taberner Pazos B, Tarragon Cros A, Díez Gandía E, Zuñiga Cabrera Á. Pons Fernández N, et al. Ann Endocrinol (Paris). 2024 Feb;85(1):70-81. doi: 10.1016/j.ando.2023.05.011. Epub 2023 Jun 21. Ann Endocrinol (Paris). 2024. PMID: 37352919 Review.
FGD is often caused by mutations in the ACTH melanocortin 2 receptor gene (MC2R, 18p11.21, FGD type 1) or melanocortin receptor 2 accessory protein gene (MRAP, 21q22.11, FGD type 2). ...
FGD is often caused by mutations in the ACTH melanocortin 2 receptor gene (MC2R, 18p11.21, FGD type 1) or mel …
Colocalization of Wnt/β-Catenin and ACTH Signaling Pathways and Paracrine Regulation in Aldosterone-producing Adenoma.
De Sousa K, Abdellatif AB, Giscos-Douriez I, Meatchi T, Amar L, Fernandes-Rosa FL, Boulkroun S, Zennaro MC. De Sousa K, et al. J Clin Endocrinol Metab. 2022 Jan 18;107(2):419-434. doi: 10.1210/clinem/dgab707. J Clin Endocrinol Metab. 2022. PMID: 34570225 Free article.
Main outcome measures included localization of CYP11B2, CYP17A1, beta-catenin, MC2R, pCREB, tryptase, S100, CD34 in APA and aldosterone-producing cell clusters (APCCs). ...In heterogeneous APA with KCNJ5 mutations, MC2R and vascular endothelial growth factor A expre …
Main outcome measures included localization of CYP11B2, CYP17A1, beta-catenin, MC2R, pCREB, tryptase, S100, CD34 in APA and aldostero …
21 results