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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 87560744.

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 82873595.

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 66028836.

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 54171787.

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 53717308.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 51799489.

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

Jennifer B. Permuth, Ailith Pirie, Y. Ann Chen, Hui-Yi Lin, Brett M. Reid, Zhihua Chen, Alvaro Monteiro, Joe Dennis, Gustavo Mendoza-Fandino, AOCS Study Group, Australian Cancer Study (Ovarian Cancer), Hoda Anton-Culver, Elisa V. Bandera, Maria Bisogna, Louise Brinton, Angela Brooks-Wilson, Michael E. Carney, Georgia Chenevix-Trench, Linda S. Cook, Daniel W. Cramer, Julie M. Cunningham, Cezary Cybulski, Aimee A. D’Aloisio, Jennifer Anne Doherty, Madalene Earp, Robert P. Edwards, Brooke L. Fridley, Simon A. Gayther, Aleksandra Gentry-Maharaj, Marc T. Goodman, Jacek Gronwald, Estrid Hogdall, Edwin S. Iversen, Anna Jakubowska, Allan Jensen, Beth Y. Karlan, Linda E. Kelemen, Suzanne K. Kjaer, Peter Kraft, Nhu D. Le, Douglas A. Levine, Jolanta Lissowska, Jan Lubinski, Keitaro Matsuo, Usha Menon, Rosemary Modugno, Kirsten B. Moysich, Toru Nakanishi, Roberta B. Ness, Sara Olson, Irene Orlow, Celeste L. Pearce, Tanja Pejovic, Elizabeth M. Poole, Susan J. Ramus, Mary Anne Rossing, Dale P. Sandler, Xiao-Ou Shu, Honglin Song, Jack A. Taylor, Soo-Hwang Teo, Kathryn L. Terry, Pamela J. Thompson, Shelley S. Tworoger, Penelope M. Webb, Nicolas Wentzensen, Lynne R. Wilkens, Stacey Winham, Yin-Ling Woo, Anna H. Wu, Hannah Yang, Wei Zheng, Argyrios Ziogas, Catherine M. Phelan, Joellen M. Schildkraut, Andrew Berchuck, Ellen L. Goode, Paul D. P. Pharoah, Thomas A. Sellers, on behalf of the Ovarian Cancer Association Consortium

Hum Mol Genet. 2016 Aug 15; 25(16): 3600–3612. Published online 2016 Jul 4. doi: 10.1093/hmg/ddw196

PMCID:: PMC5179948

Abstract Article PDF–833K

Select item 471268710.

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 457345211.

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 439308212.

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 436727113.

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 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 321663615.

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 317805916.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 311109417.

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

Select item 309572118.

Use of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein

Patricia M. Hinkle, Madhavika N. Serasinghe, Andrea Jakabowski, Julien A. Sebag, Krista R. Wilson, Carrie Haskell-Luevano

Eur J Pharmacol. Author manuscript; available in PMC 2012 Jun 11.

Published in final edited form as: Eur J Pharmacol. 2011 Jun 11; 660(1): 94–102. Published online 2011 Jan 3. doi: 10.1016/j.ejphar.2010.10.113

PMCID:: PMC3095721

Abstract Article PDF–2.9M

Select item 296729719.

A large-scale candidate-gene association study of age at menarche and age at natural menopause

Chunyan He, Peter Kraft, Daniel I. Chasman, Julie E. Buring, Constance Chen, Susan E. Hankinson, Guillaume Paré, Stephen Chanock, Paul M. Ridker, David J. Hunter

Hum Genet. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Hum Genet. 2010 Nov; 128(5): 515–527. Published online 2010 Aug 24. doi: 10.1007/s00439-010-0878-4

PMCID:: PMC2967297

Abstract Article PDF–84K

Select item 293585620.

Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium

Federico Canzian, David G. Cox, V. Wendy Setiawan, Daniel O. Stram, Regina G. Ziegler, Laure Dossus, Lars Beckmann, Hélène Blanché, Aurelio Barricarte, Christine D. Berg, Sheila Bingham, Julie Buring, Saundra S. Buys, Eugenia E. Calle, Stephen J. Chanock, Françoise Clavel-Chapelon, John Oliver L. DeLancey, W. Ryan Diver, Miren Dorronsoro, Christopher A. Haiman, Göran Hallmans, Susan E. Hankinson, David J. Hunter, Anika Hüsing, Claudine Isaacs, Kay-Tee Khaw, Laurence N. Kolonel, Peter Kraft, Loïc Le Marchand, Eiliv Lund, Kim Overvad, Salvatore Panico, Petra H.M. Peeters, Michael Pollak, Michael J. Thun, Anne Tjønneland, Dimitrios Trichopoulos, Rosario Tumino, Meredith Yeager, Robert N. Hoover, Elio Riboli, Gilles Thomas, Brian E. Henderson, Rudolf Kaaks, Heather Spencer Feigelson

Hum Mol Genet. 2010 Oct 1; 19(19): 3873–3884. Published online 2010 Jul 15. doi: 10.1093/hmg/ddq291

PMCID:: PMC2935856

Abstract Article PDF–274K

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