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Select item 100033391.

A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report

ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang

Front Endocrinol (Lausanne) 2023; 14: 1113234. Published online 2023 Feb 24. doi: 10.3389/fendo.2023.1113234

PMCID:: PMC10003339

Abstract Article PDF–793K

Select item 98106612.

Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1

Ping Luo, Wenbo Feng, Shanshan Ma, Antao Dai, Kai Wu, Xianyue Chen, Qingning Yuan, Xiaoqing Cai, Dehua Yang, Ming-Wei Wang, H. Eric Xu, Yi Jiang

Cell Res. 2023 Jan; 33(1): 46–54. Published online 2023 Jan 2. doi: 10.1038/s41422-022-00751-6

PMCID:: PMC9810661

Abstract Article PDF–3.4M

Select item 95995143.

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

Perry V. Davis, Ciaran A. Shaughnessy, Robert M. Dores

Biomolecules. 2022 Oct; 12(10): 1422. Published online 2022 Oct 4. doi: 10.3390/biom12101422

PMCID:: PMC9599514

Abstract Article PDF–1.9M

Select item 82873594.

A variant in the 3ʹ-untranslated region of the MC2R gene decreases the risk of schizophrenia in a female Han Chinese population

Liang Tang, Qin Xiang, Ju Xiang, Jianming Li, Danna Chen

J Int Med Res. 2021 Jul; 49(7): 03000605211029504. Published online 2021 Jul 16. doi: 10.1177/03000605211029504

PMCID:: PMC8287359

Abstract Article PDF–341K

Select item 54171785.

Mechanisms of Melanocortin-2 Receptor (MC2R) Internalization and Recycling in Human Embryonic Kidney (HEK) Cells: Identification of Key Ser/Thr (S/T) Amino Acids

Simon Roy, Sébastien Jean Roy, Sandra Pinard, Louis-Daniel Taillefer, Mohamed Rached, Jean-Luc Parent, Nicole Gallo-Payet

Mol Endocrinol. November 1, 2011; 25(11): 1961–1977. Published online 2011 Sep 15. doi: 10.1210/me.2011-0018

PMCID:: PMC5417178

Abstract Article

Select item 47126876.

A single nucleotide polymorphism in the corticotropin receptor gene is associated with a blunted cortisol response during pediatric critical illness

David Jardine, Mary Emond, Kathleen L. Meert, Rick Harrison, Joseph A. Carcillo, Kanwaljeet J. S. Anand, John Berger, Christopher J. L. Newth, Douglas F. Willson, Carol Nicholson, J. Michael Dean, Jerry J. Zimmerman, for the Eunice Kennedy Shriver National Institute of Child Health and Human Development Collaborative Pediatric Critical Care Research Network

Pediatr Crit Care Med. Author manuscript; available in PMC 2016 Jan 14.

Published in final edited form as: Pediatr Crit Care Med. 2014 Oct; 15(8): 698–705. doi: 10.1097/PCC.0000000000000193

PMCID:: PMC4712687

Abstract Article PDF–867K

Select item 43672717.

Third Transmembrane Domain of the Adrenocorticotropic Receptor Is Critical for Ligand Selectivity and Potency

Yingkui Yang, Vinod Mishra, Chiquito J. Crasto, Min Chen, Reed Dimmitt, Carroll M. Harmon

J Biol Chem. 2015 Mar 20; 290(12): 7685–7692. Published online 2015 Jan 20. doi: 10.1074/jbc.M114.596122

PMCID:: PMC4367271

Abstract Article PDF–714K

Select item 32166368.

Molecular identification of melanocortin-2 receptor responsible for ligand binding and signaling

Min Chen, Charles J. Aprahamian, Robert Allen Kesterson, Jr., Carroll M. Harmon, Yingkui Yang

Biochemistry. Author manuscript; available in PMC 2011 Nov 15.

Published in final edited form as: Biochemistry. 2007 Oct 9; 46(40): 11389–11397. Published online 2007 Sep 18. doi: 10.1021/bi700125e

PMCID:: PMC3216636

Abstract Article PDF–2.1M

Select item 24593429.

Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction

Dmitri Proudnikov, Sara Hamon, Jurg Ott, Mary Jeanne Kreek

Neurosci Lett. Author manuscript; available in PMC 2009 Apr 25.

Published in final edited form as: Neurosci Lett. 2008 Apr 25; 435(3): 234–239. Published online 2008 Feb 26. doi: 10.1016/j.neulet.2008.02.042

PMCID:: PMC2459342

Abstract Article PDF–75K

Select item 185997710.

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

Lin Lin, Peter C Hindmarsh, Louise A Metherell, Mahmoud Alzyoud, Maryam Al-Ali, Caroline E Brain, Adrian J L Clark, Mehul T Dattani, John C Achermann

Clin Endocrinol (Oxf) 2007 Feb 1; 66(2): 205–210. doi: 10.1111/j.1365-2265.2006.02709.x

PMCID:: PMC1859977

Abstract Article PDF–192K

Select item 28843011.

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

C Tsigos, K Arai, W Hung, G P Chrousos

J Clin Invest. 1993 Nov; 92(5): 2458–2461. doi: 10.1172/JCI116853

PMCID:: PMC288430

Summary Page Browse PDF–772K

Select item 875607412.

Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study

Leoné Malan, Roland von Känel, Wayne Smith, Annemarie Wentzel, Carlien E Myburgh, Nico T Malan, Mark Hamer, Roland von Känel, Konstantin Kotliar, Roelof D van Wyk, Gavin W Lambert, Walthard Vilser, Dr-Ing, Tjalf Ziemssen, Markus P Schlaich, Wayne Smith, Martin Magnusson, Hendrik S Steyn

Cardiovasc J Afr. 2021 Jan-Feb; 32(1): 5–16. Published online 2020 Oct 26. doi: 10.5830/CVJA-2020-031

PMCID:: PMC8756074

Abstract Article PDF–3.0M

Select item 660288313.

Distinct MRAP domains are required for MC2R interaction and promotion of receptor trafficking

Tom R. Webb, Li Chan, Sadani N. Cooray, Michael E. Cheetham, J. Paul Chapple, Adrian J. L. Clark

Endocrinology. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Endocrinology. 2009 Feb 1; 150(2): 720–726. Published online 2008 Sep 25. doi: 10.1210/en.2008-0941

PMCID:: PMC6602883

Abstract Article PDF–1.3M

Select item 402462514.

Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

Madson Q Almeida, Laura C Kaupert, Luciana P Brito, Antonio M Lerario, Beatriz M P Mariani, Marta Ribeiro, Osmar Monte, Francisco T Denes, Berenice B Mendonca, Tânia ASS Bachega

BMC Endocr Disord. 2014; 14: 42. Published online 2014 May 12. doi: 10.1186/1472-6823-14-42

PMCID:: PMC4024625

Abstract Article PDF–603K

Select item 285583015.

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

Teng-Teng L L Chung, Li F Chan, Louise A Metherell, Adrian J L Clark

Clin Endocrinol (Oxf) 2010 May; 72(5): 589–594. doi: 10.1111/j.1365-2265.2009.03663.x

PMCID:: PMC2855830

Abstract Article PDF–334K

Select item 275437716.

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

Li F Chan, Teng-Teng Chung, Ahmed F Massoud, Louise A Metherell, Adrian J L Clark

Eur J Endocrinol. 2009 Apr; 160(4): 705–710. doi: 10.1530/EJE-08-0636

PMCID:: PMC2754377

Abstract Article PDF–188K

Select item 263554617.

The majority of ACTH receptor (MC2R) mutations found in Familial Glucocorticoid Deficiency type 1 lead to defective trafficking of the receptor to the cell surface

Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL

J Clin Endocrinol Metab. Author manuscript; available in PMC 2009 Feb 3.

Published in final edited form as: J Clin Endocrinol Metab. 2008 Dec; 93(12): 4948–4954. Published online 2008 Oct 7. doi: 10.1210/jc.2008-1744

PMCID:: PMC2635546

Abstract Article PDF–902K

Select item 457345218.

Expression of melanocortin receptors in human endometrium

Anastasia M. Lantang, Barbara A. Innes, Earn H. Gan, Simon H. Pearce, Gendie E. Lash

Hum Reprod. 2015 Oct; 30(10): 2404–2410. Published online 2015 Jul 29. doi: 10.1093/humrep/dev188

PMCID:: PMC4573452

Abstract Article PDF–465K

Select item 439308219.

Melanocortins Contribute to Sequential Differentiation and Enucleation of Human Erythroblasts via Melanocortin Receptors 1, 2 and 5

Eriko Simamura, Tomohiro Arikawa, Takayuki Ikeda, Hiroki Shimada, Hiroki Shoji, Hiroko Masuta, Yuriko Nakajima, Hiroki Otani, Hideto Yonekura, Toshihisa Hatta

PLoS One. 2015; 10(4): e0123232. Published online 2015 Apr 10. doi: 10.1371/journal.pone.0123232

PMCID:: PMC4393082

Abstract Article PDF–4.0M

Select item 311109420.

Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland

Rebecca J Gorrigan, Leonardo Guasti, Peter King, Adrian J Clark, Li F Chan

J Mol Endocrinol. 2011 Jun; 46(3): 227–232. Prepublished online 2011 Mar 2. doi: 10.1530/JME-11-0011

PMCID:: PMC3111094

Abstract Article PDF–224K

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