| [Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene]. | [Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene].
Gao J, Liu X, Cui Y, Cao B, Chen Y, Wei H, Yang H. | 11/27/2023 |
| A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. | A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.
Liu S, Zeng T, Luo C, Peng D, Xu X, Liu Q, Wu Q, Lu Q, Huang F., Free PMC Article | 08/9/2023 |
| Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1. | Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1.
Luo P, Feng W, Ma S, Dai A, Wu K, Chen X, Yuan Q, Cai X, Yang D, Wang MW, Eric Xu H, Jiang Y., Free PMC Article | 01/14/2023 |
| Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells. | Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells.
Davis PV, Shaughnessy CA, Dores RM., Free PMC Article | 11/5/2022 |
| Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study. | Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study.
Malan L, Hamer M, von Känel R, Kotliar K, van Wyk RD, Lambert GW, Vilser W, Ziemssen T, Schlaich MP, Smith W, Magnusson M, Wentzel A, Myburgh CE, Steyn HS, Malan NT., Free PMC Article | 12/4/2021 |
| Sex-specific association of MC2R polymorphisms and the risk of major depressive disorder in Chinese Southern Han. | Sex-specific association of MC2R polymorphisms and the risk of major depressive disorder in Chinese Southern Han.
Yuan F, Hou B, Ji L, Ren D, Liu L, Bi Y, Guo Z, Ma G, Yang F, Dong Z, Sun X, He L, Yu T, Wu X, Li X, Shi Y, He G. | 08/14/2021 |
| A variant in the 3'-untranslated region of the MC2R gene decreases the risk of schizophrenia in a female Han Chinese population. | A variant in the 3'-untranslated region of the MC2R gene decreases the risk of schizophrenia in a female Han Chinese population.
Tang L, Xiang Q, Xiang J, Li J, Chen D., Free PMC Article | 07/24/2021 |
| Results indicate that substitution of the amino acid residue leucine to isoleucine in 112 (L112I) of one of the transmembrane domains in the MC2R changes from both DPhe-ACTH1-17 and ACTH1-15 from no activity to agonists. Also, mutation L112I switches alpha-MSH from no activity to agonist, suggesting that this residue plays a key role at MC2R for ligand ACTH or alpha-MSH selectivity. | Amino acid residue L112 in the ACTH receptor plays a key role in ACTH or α-MSH selectivity.
Yang Y, Chen M, Ventro G, Harmon CM. | 11/16/2019 |
| Results show regulation of melanocortin receptors MC2R, MC3R and MC4R gene expressions in CD8(+) cytotoxic T-lymphocytes and CD19(+) B lymphocytes in rheumatoid arthritis (RA) treated with tumor necrosis factor-alpha (TNF-alpha) inhibitor adalimumab. | Melanocortin 2, 3 and 4 Receptor Gene Expressions are Downregulated in CD8(+) T Cytotoxic Lymphocytes and CD19(+) B Lymphocytes in Rheumatoid Arthritis Responding to TNF-α Inhibition.
Andersen M, Nagaev I, Meyer MK, Nagaeva O, Wikberg J, Mincheva-Nilsson L, Andersen GN. | 08/5/2017 |
| Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). | Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Permuth JB, Pirie A, Ann Chen Y, Lin HY, Reid BM, Chen Z, Monteiro A, Dennis J, Mendoza-Fandino G, AOCS Study Group, Australian Cancer Study (Ovarian Cancer), Anton-Culver H, Bandera EV, Bisogna M, Brinton L, Brooks-Wilson A, Carney ME, Chenevix-Trench G, Cook LS, Cramer DW, Cunningham JM, Cybulski C, D'Aloisio AA, Anne Doherty J, Earp M, Edwards RP, Fridley BL, Gayther SA, Gentry-Maharaj A, Goodman MT, Gronwald J, Hogdall E, Iversen ES, Jakubowska A, Jensen A, Karlan BY, Kelemen LE, Kjaer SK, Kraft P, Le ND, Levine DA, Lissowska J, Lubinski J, Matsuo K, Menon U, Modugno R, Moysich KB, Nakanishi T, Ness RB, Olson S, Orlow I, Pearce CL, Pejovic T, Poole EM, Ramus SJ, Anne Rossing M, Sandler DP, Shu XO, Song H, Taylor JA, Teo SH, Terry KL, Thompson PJ, Tworoger SS, Webb PM, Wentzensen N, Wilkens LR, Winham S, Woo YL, Wu AH, Yang H, Zheng W, Ziogas A, Phelan CM, Schildkraut JM, Berchuck A, Goode EL, Pharoah PD, Sellers TA, Ovarian Cancer Association Consortium., Free PMC Article | 07/15/2017 |
| melanocortin receptors MC2R, MC3R and MC5R are most abundantly expressed in glandular epithelium of the endometrium | Expression of melanocortin receptors in human endometrium.
Lantang AM, Innes BA, Gan EH, Pearce SH, Lash GE., Free PMC Article | 07/30/2016 |
| MC2R and MC1R signals are consecutively required for the regulation of EPO signal transduction in erythroblast differentiation, and MC5R signal transduction is required to induce enucleation. | Melanocortins contribute to sequential differentiation and enucleation of human erythroblasts via melanocortin receptors 1, 2 and 5.
Simamura E, Arikawa T, Ikeda T, Shimada H, Shoji H, Masuta H, Nakajima Y, Otani H, Yonekura H, Hatta T., Free PMC Article | 04/23/2016 |
| the MC2R gene may contribute to the development of intracerebral hemorrhage. | Association between two promoter polymorphisms (rs1893219 and rs1893220) of MC2R gene and intracerebral hemorrhage in Korean population.
Park HK, Chon J, Park HJ, Chung JH, Baik HH. | 10/31/2015 |
| The A allele at rs1941088 in the MC2R gene, which encodes the adrenocorticotropic hormone (corticotropin, ACTH) receptor, is associated with a low cortisol response in critically ill children. | A single nucleotide polymorphism in the corticotropin receptor gene is associated with a blunted cortisol response during pediatric critical illness.
Jardine D, Emond M, Meert KL, Harrison R, Carcillo JA, Anand KJ, Berger J, Newth CJ, Willson DF, Nicholson C, Dean JM, Zimmerman JJ, Eunice Kennedy Shriver National Institute of Child Health and Human Development Collaborative Pediatric Critical Care Research Network., Free PMC Article | 09/5/2015 |
| results suggest that Phe(7) in ACTH plays an important role in ligand selectivity and that the third transmembrane domain of MC2R is crucial for ACTH selectivity and potency | Third transmembrane domain of the adrenocorticotropic receptor is critical for ligand selectivity and potency.
Yang Y, Mishra V, Crasto CJ, Chen M, Dimmitt R, Harmon CM., Free PMC Article | 07/4/2015 |
| MC2R overexpression is associated with myelolipomas. | Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
Almeida MQ, Kaupert LC, Brito LP, Lerario AM, Mariani BM, Ribeiro M, Monte O, Denes FT, Mendonca BB, Bachega TA., Free PMC Article | 12/20/2014 |
| The patient with familial glucocorticoid deficiency was found to be homozygous for a novel mutation in the melanocortin-2 receptor gene (635insC, I154H). | Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene.
Jacoby E, Barzilai A, Laufer J, Pade S, Anikster Y, Pinhas-Hamiel O, Greenberger S. | 09/27/2014 |
| Our observations suggest that MC2R is involved in prostate carcinogenesis and that targeting MC2R signaling may provide a novel avenue in prostate carcinoma treatment. | Expression of melanocortin receptors in human prostate cancer cell lines: MC2R activation by ACTH increases prostate cancer cell proliferation.
Hafiz S, Dennis JC, Schwartz D, Judd R, Tao YX, Khazal K, Akingbemi B, Mo XL, Abdel-Mageed AB, Morrison E, Mansour M. | 01/4/2014 |
| The ACTHR gene -2T>C variant may be one important factor that influences stress perception of patients with alopecia areata. | The -2T/C polymorphism in the adrenocorticotropin receptor gene affects stress perception of patients with alopecia areata.
Guo HW, Guo H, Li KS, Wu J, Yang SY, Liu BH, Hao F, Bai Y. | 11/16/2013 |
| Significant differences in the gene expression of aldosterone synthase and adrenocorticotropic hormone receptor distinguishes adrenal neoplasms from primary aldosteronism. | Expression of aldosterone synthase and adrenocorticotropic hormone receptor in adrenal incidentalomas from normotensive and hypertensive patients: Distinguishing subclinical or atypical primary aldosteronism from adrenal incidentaloma.
Cao CX, Yang XC, Gao YX, Zhuang M, Wang KP, Sun LJ, Wang XS. | 06/1/2013 |
| GRA5556G, GRA5556G, GAGG4534/4536AAAG polymorphisms and ACTHR promoter T-2C variants might be associated with quantitative trait of stress. | [Associations of GR and ACTHR gene polymorphisms with quantitative trait of strain].
Lian YL, Li FY, Wang L, Wang Q, Ning L, Zhang C, Liu JW. | 09/15/2012 |
| No significant difference was found between plasma lipid and glucose levels and various GR and ACTHR genotypes. | [Association between plasma lipid, glucose, cortisol and adrenocorticotropic hormone levels and GR and ACTHR gene polymorphisms].
Lian YL, Wei X, Wang Q, Ning L, Zhang C, Liu JW. | 07/21/2012 |
| Intracellular Ser and Thr (S/T) residues of MC2R were found to play important roles not only in plasma membrane targeting and function but also in promoting receptor internalization. | Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.
Roy S, Roy SJ, Pinard S, Taillefer LD, Rached M, Parent JL, Gallo-Payet N., Free PMC Article | 05/19/2012 |
| Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R). | Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations.
al Kandari HM, Katsumata N, al Alwan I, al Balwi M, Rasoul MS. | 02/4/2012 |
| The MC2R/MRAP2 complex requires much higher concentrations of ACTH to activate compared with the MC2R/MRAP complex. | Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.
Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF., Free PMC Article | 10/8/2011 |