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Items: 1 to 20 of 41

1.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
Katie Duckett, Alice Williamson, John W R Kincaid, Kara Rainbow, Laura J Corbin, Hilary C Martin, Ruth Y Eberhardt, Qin Qin Huang, Matthew E Hurles, Wen He, Raja Brauner, Angela Delaney, Leo Dunkel, Romina P Grinspon, Janet E Hall, Joel N Hirschhorn, Sasha R Howard, Ana C Latronico, Alexander A L Jorge, Ken McElreavey, Verónica Mericq, Paulina M Merino, Mark R Palmert, Lacey Plummer, Rodolfo A Rey, Raíssa C Rezende, Stephanie B Seminara, Kathryn Salnikov, Indraneel Banerjee, Brian Y H Lam, John R B Perry, Nicholas J Timpson, Peter Clayton, Yee-Ming Chan, Ken K Ong, Stephen O’Rahilly
J Clin Endocrinol Metab. 2023 Dec; 108(12): e1580–e1587. Published online 2023 Jun 20. doi: 10.1210/clinem/dgad373
PMCID:
PMC10655545
AbstractArticle
2.
Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development
Yiran Zheng, Luisa Sophie Rajcsanyi, Triinu Peters, Astrid Dempfle, Stefan A. Wudy, Johannes Hebebrand, Anke Hinney
Sci Rep. 2023; 13: 10419. Published online 2023 Jun 27. doi: 10.1038/s41598-023-37344-1
PMCID:
PMC10300021
AbstractArticlePDF–1.6M
3.
Specific Functions of Melanocortin 3 Receptor (MC3R)
Tulin Yanik, Seyda Tugce Durhan
J Clin Res Pediatr Endocrinol. 2023 Mar; 15(1): 1–6. Published online 2023 Feb 27. doi: 10.4274/jcrpe.galenos.2022.2022-5-21
PMCID:
PMC9976164
AbstractArticlePDF–303K
4.
CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system
Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar
Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629
PMCID:
PMC8842165
AbstractArticlePDF–3.0M
5.
MC3R links nutritional state to childhood growth and the timing of puberty
B. Y. H. Lam, A. Williamson, S. Finer, F. R. Day, J. A. Tadross, A. Gonçalves Soares, K. Wade, P. Sweeney, M. N. Bedenbaugh, D. T. Porter, A. Melvin, K. L. J. Ellacott, R. N. Lippert, S. Buller, J. Rosmaninho-Salgado, G. K. C. Dowsett, K. E. Ridley, Z. Xu, I. Cimino, D. Rimmington, K. Rainbow, K. Duckett, S. Holmqvist, A. Khan, X. Dai, E. G. Bochukova, Genes & Health Research Team, R. C. Trembath, H. C. Martin, A. P. Coll, D. H. Rowitch, N. J. Wareham, D. A. van Heel, N. Timpson, R. B. Simerly, K. K. Ong, R. D. Cone, C. Langenberg, J. R. B. Perry, G. S. Yeo, S. O’Rahilly
Nature. Author manuscript; available in PMC 2022 Nov 3.
Published in final edited form as: Nature. 2021 Nov; 599(7885): 436–441. Published online 2021 Nov 3. doi: 10.1038/s41586-021-04088-9
PMCID:
PMC8819628
AbstractArticlePDF–3.2M
6.
Associations of the Melanocortin 3 Receptor C17A + G241A haplotype with body composition and inflammation in African American adults
ANDREW P. DEMIDOWICH, VIRAJ J. PARIKH, NICKET DEDHIA, RACHEL E. BRANHAM, SAMAR A. MADI, SHANNON E. MARWITZ, ROBIN B. ROBERSON, ANDREW J. UHLMAN, NOAH J. LEVI, SARAH J. MI, JOO YUN JUN, MIRANDA M. BROADNEY, SHEILA M. BRADY, JACK A. YANOVSKI
Ann Hum Genet. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Ann Hum Genet. 2019 Sep; 83(5): 355–360. Published online 2019 Apr 2. doi: 10.1111/ahg.12315
PMCID:
PMC6699895
AbstractArticlePDF–74K
7.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
8.
Structural Insights into Selective Ligand–Receptor Interactions Leading to Receptor Inactivation Utilizing Selective Melanocortin 3 Receptor Antagonists
Minying Cai, Udaya Kiran Marelli, Blake Mertz, Johannes G. Beck, Florian Opperer, Florian Rechenmacher, Horst Kessler, Victor J. Hruby
Biochemistry. Author manuscript; available in PMC 2018 Jun 13.
Published in final edited form as: Biochemistry. 2017 Aug 15; 56(32): 4201–4209. Published online 2017 Aug 1. doi: 10.1021/acs.biochem.7b00407
PMCID:
PMC5999403
AbstractArticlePDF–1.2M
9.
Polymorphisms and mutations in the melanocortin-3 receptor and their relation to human obesity
Andrew P. Demidowich, Joo Yun Jun, Jack A. Yanovski
Biochim Biophys Acta. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Biochim Biophys Acta. 2017 Oct; 1863(10 Pt A): 2468–2476. Published online 2017 Mar 29. doi: 10.1016/j.bbadis.2017.03.018
PMCID:
PMC5600657
AbstractArticlePDF–519K
10.
MC3R gene polymorphisms are associated with early childhood adiposity gain and infant appetite in an Asian population
I. M. Aris, M. T. Tint, A. L. Teh, J. D. Holbrook, P. L. Quah, M. F.‐F. Chong, X. Lin, S. E. Soh, S.‐M. Saw, K. Kwek, K. M. Godfrey, P. D. Gluckman, Y. S. Chong, N. Lek, F. Yap, Y. S. Lee
Pediatr Obes. 2016 Dec; 11(6): 450–458. Published online 2015 Dec 11. doi: 10.1111/ijpo.12086
PMCID:
PMC5111755
AbstractArticlePDF–241K
11.
A mouse model for a partially inactive obesity-associated human MC3R variant
Bonggi Lee, Jashin Koo, Joo Yun Jun, Oksana Gavrilova, Yongjun Lee, Arnold Y. Seo, Dezmond C. Taylor-Douglas, Diane C. Adler-Wailes, Faye Chen, Ryan Gardner, Dimitri Koutzoumis, Roya Sherafat Kazemzadeh, Robin B. Roberson, Jack A. Yanovski
Nat Commun. 2016; 7: 10522. Published online 2016 Jan 28. doi: 10.1038/ncomms10522
PMCID:
PMC4738366
AbstractArticlePDF–1.5M
12.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
13.
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
AbstractArticlePDF–465K
14.
Functions of DPLIY Motif and Helix 8 of Human Melanocortin-3 Receptor
Zhao Yang, Zhi-Li Huang, Ya-Xiong Tao
J Mol Endocrinol. Author manuscript; available in PMC 2016 Aug 1.
Published in final edited form as: J Mol Endocrinol. 2015 Oct; 55(2): 107–117. Published online 2015 Jul 28. doi: 10.1530/JME-15-0116
PMCID:
PMC4553224
AbstractArticlePDF–581K
15.
Biased Signaling in Naturally Occurring Mutations in Human Melanocortin-3 Receptor Gene
Fan Yang, Hui Huang, Ya-Xiong Tao
Int J Biol Sci. 2015; 11(4): 423–433. Published online 2015 Feb 23. doi: 10.7150/ijbs.11032
PMCID:
PMC4366641
AbstractArticlePDF–1.1M
16.
Evaluation of Hypothalamic Murineand Human Melanocortin 3 Receptor Transcript Structure
Dezmond C Taylor-Douglas, Arunabha Basu, Ryan M. Gardner, Sender Aspelund, Xin Wen, Jack A. Yanovski
Biochem Biophys Res Commun. Author manuscript; available in PMC 2015 Nov 7.
Published in final edited form as: Biochem Biophys Res Commun. 2014 Nov 7; 454(1): 234–238. Published online 2014 Oct 22. doi: 10.1016/j.bbrc.2014.10.072
PMCID:
PMC4312205
AbstractArticlePDF–1.2M
17.
Melanocortin 3 Receptor Has a 5′ Exon That Directs Translation of Apically Localized Protein From the Second In-Frame ATG
Jeenah Park, Neeraj Sharma, Garry R. Cutting
Mol Endocrinol. 2014 Sep; 28(9): 1547–1557. Published online 2014 Jul 22. doi: 10.1210/me.2014-1105
PMCID:
PMC4154237
AbstractArticle
18.
Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
J. Cieslak, K. A. Majewska, A. Tomaszewska, B. Skowronska, P. Fichna, M. Switonski
Mol Biol Rep. 2013; 40(12): 6893–6898. Published online 2013 Oct 20. doi: 10.1007/s11033-013-2808-8
PMCID:
PMC3835951
AbstractArticlePDF–236K
19.
Melanocortin-3-receptor promoter polymorphism associated with tuberculosis susceptibility does not influence protein expression
Marlene Eggert, Martina Pfob, Ortrud K Steinlein
BMC Res Notes. 2013; 6: 99. Published online 2013 Mar 15. doi: 10.1186/1756-0500-6-99
PMCID:
PMC3605127
AbstractArticlePDF–143K
20.
Functional Characterization of Nine Novel Naturally Occurring Human Melanocortin-3 Receptor Mutations
Fan Yang, Ya-Xiong Tao
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Nov 1.
Published in final edited form as: Biochim Biophys Acta. 2012 Nov; 1822(11): 1752–1761. Published online 2012 Aug 3. doi: 10.1016/j.bbadis.2012.07.017
PMCID:
PMC3465685
AbstractArticlePDF–6.6M

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