Publications:

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Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.

Frontiers In Endocrinology

Zheng, Yiran Y; Rajcsanyi, Luisa Sophie LS; Kowalczyk, Manuela M; Giuranna, Johanna J; Herpertz-Dahlmann, Beate B; Seitz, Jochen J; de Zwaan, Martina M; Herzog, Wolfgang W; Ehrlich, Stefan S; Zipfel, Stephan S; Giel, Katrin K; Egberts, Karin K; Burghardt, Roland R; Föcker, Manuel M; Al-Lahham, Saad S; Hebebrand, Johannes J; Fuhrer, Dagmar D; Tan, Susanne S; Zwanziger, Denise D; Peters, Triinu T; Hinney, Anke A

Publication Date: 2023

Variant appearance in text: MC4R: Arg165Trp

PubMed Link: 37025415

Variant Present in the following documents:

• Main text
• DataSheet_1.xlsx, sheet 4
• fendo-14-1137308.pdf
• DataSheet_1.xlsx, sheet 12

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Ligands for Melanocortin Receptors: Beyond Melanocyte-Stimulating Hormones and Adrenocorticotropin.

Biomolecules

Yuan, Xiao-Chen XC; Tao, Ya-Xiong YX

Publication Date: 2022-10-01

Variant appearance in text: MC4R: R165W

PubMed Link: 36291616

Variant Present in the following documents:

• Main text
• biomolecules-12-01407.pdf

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Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Frontiers In Endocrinology

Ulloa-Aguirre, Alfredo A; Zariñán, Teresa T; Gutiérrez-Sagal, Rubén R; Tao, Ya-Xiong YX

Publication Date: 2022

Variant appearance in text: MC4R: R165W

PubMed Link: 36093106

Variant Present in the following documents:

• Main text
• fendo-13-934685.pdf

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Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.

Cell Reports

Brouwers, Bas B; de Oliveira, Edson Mendes EM; Marti-Solano, Maria M; Monteiro, Fabiola B F FBF; Laurin, Suli-Anne SA; Keogh, Julia M JM; Henning, Elana E; Bounds, Rebecca R; Daly, Carole A CA; Houston, Shane S; Ayinampudi, Vikram V; Wasiluk, Natalia N; Clarke, David D; Plouffe, Bianca B; Bouvier, Michel M; Babu, M Madan MM; Farooqi, I Sadaf IS; Mokrosiński, Jacek J

Publication Date: 2021-03-23

Variant appearance in text: MC4R: R165W

PubMed Link: 33761344

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc3.xlsx, sheet 1

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DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research

Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC

Publication Date: 2021-05

Variant appearance in text: MC4R: R165W

PubMed Link: 33707228

Variant Present in the following documents:

• supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 6

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Pharmacological chaperone action in humanized mouse models of MC4R-linked obesity.

Jci Insight

René, Patricia P; Lanfray, Damien D; Richard, Denis D; Bouvier, Michel M

Publication Date: 2021-02-22

Variant appearance in text: MC4R: R165W

PubMed Link: 33434184

Variant Present in the following documents:

• jciinsight-6-132778-s061.pdf

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Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

International Journal Of Obesity (2005)

Namjou, Bahram B; Stanaway, Ian B IB; Lingren, Todd T; Mentch, Frank D FD; Benoit, Barbara B; Dikilitas, Ozan O; Niu, Xinnan X; Shang, Ning N; Shoemaker, Ashley H AH; Carey, David J DJ; Mirshahi, Tooraj T; Singh, Rajbir R; Nestor, Jordan G JG; Hakonarson, Hakon H; Denny, Joshua C JC; Crosslin, David R DR; Jarvik, Gail P GP; Kullo, Iftikhar J IJ; Williams, Marc S MS; , ; Harley, John B JB

Publication Date: 2021-01

Variant appearance in text: MC4R: R165W; rs13447332

PubMed Link: 32952152

Variant Present in the following documents:

• 41366_2020_675_MOESM1_ESM.xlsx, sheet 4
• 41366_2020_675_MOESM1_ESM.xlsx, sheet 6

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Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Yang, Li-Kun LK; Hou, Zhi-Shuai ZS; Tao, Ya-Xiong YX

Publication Date: 2021-01-01

Variant appearance in text: MC4R: R165W

PubMed Link: 32949766

Variant Present in the following documents:

• Main text

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MC4R: 493C>T; Arg165Trp; rs13447332

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.

European Journal Of Pediatrics

Aykut, Ayça A; Özen, Samim S; Gökşen, Damla D; Ata, Aysun A; Onay, Hüseyin H; Atik, Tahir T; Darcan, Şükran Ş; Özkinay, Ferda F

Publication Date: 2020-09

Variant appearance in text: MC4R: R165W

PubMed Link: 32185475

Variant Present in the following documents:

• Main text
• 431_2020_Article_3630.pdf

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Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Nature Medicine

Baron, Morgane M; Maillet, Julie J; Huyvaert, Marlène M; Dechaume, Aurélie A; Boutry, Raphaël R; Loiselle, Hélène H; Durand, Emmanuelle E; Toussaint, Bénédicte B; Vaillant, Emmanuel E; Philippe, Julien J; Thomas, Jérémy J; Ghulam, Amjad A; Franc, Sylvia S; Charpentier, Guillaume G; Borys, Jean-Michel JM; Lévy-Marchal, Claire C; Tauber, Maïthé M; Scharfmann, Raphaël R; Weill, Jacques J; Aubert, Cécile C; Kerr-Conte, Julie J; Pattou, François F; Roussel, Ronan R; Balkau, Beverley B; Marre, Michel M; Boissel, Mathilde M; Derhourhi, Mehdi M; Gaget, Stefan S; Canouil, Mickaël M; Froguel, Philippe P; Bonnefond, Amélie A

Publication Date: 2019-11

Variant appearance in text: MC4R: R165W

PubMed Link: 31700171

Variant Present in the following documents:

• EMS84473-supplement-Supplementary_Tables.pdf

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Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: MC4R: R165W

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 11

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Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.

Cell

Lotta, Luca A LA; Mokrosiński, Jacek J; Mendes de Oliveira, Edson E; Li, Chen C; Sharp, Stephen J SJ; Luan, Jian'an J; Brouwers, Bas B; Ayinampudi, Vikram V; Bowker, Nicholas N; Kerrison, Nicola N; Kaimakis, Vasileios V; Hoult, Diana D; Stewart, Isobel D ID; Wheeler, Eleanor E; Day, Felix R FR; Perry, John R B JRB; Langenberg, Claudia C; Wareham, Nicholas J NJ; Farooqi, I Sadaf IS

Publication Date: 2019-04-18

Variant appearance in text: MC4R: R165W

PubMed Link: 31002796

Variant Present in the following documents:

• Main text
• mmc2.pdf
• mmc1.pdf
• mmc5.pdf

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Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

Journal Of Clinical Research In Pediatric Endocrinology

Akıncı, Ayşehan A; Türkkahraman, Doğa D; Tekedereli, İbrahim İ; Özer, Leyla L; Evren, Bahri B; Şahin, İbrahim İ; Kalkan, Tarkan T; Çürek, Yusuf Y; Çamtosun, Emine E; Döğer, Esra E; Bideci, Aysun A; Güven, Ayla A; Eren, Erdal E; Sangün, Özlem Ö; Çayır, Atilla A; Bilir, Pelin P; Törel Ergür, Ayça A; Ercan, Oya O

Publication Date: 2019-11-22

Variant appearance in text: MC4R: 493C>T; R165W

PubMed Link: 30991789

Variant Present in the following documents:

• Main text

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Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Molecular Metabolism

Collet, Tinh-Hai TH; Dubern, Béatrice B; Mokrosinski, Jacek J; Connors, Hillori H; Keogh, Julia M JM; Mendes de Oliveira, Edson E; Henning, Elana E; Poitou-Bernert, Christine C; Oppert, Jean-Michel JM; Tounian, Patrick P; Marchelli, Florence F; Alili, Rohia R; Le Beyec, Johanne J; Pépin, Dominique D; Lacorte, Jean-Marc JM; Gottesdiener, Andrew A; Bounds, Rebecca R; Sharma, Shubh S; Folster, Cathy C; Henderson, Bart B; O'Rahilly, Stephen S; Stoner, Elizabeth E; Gottesdiener, Keith K; Panaro, Brandon L BL; Cone, Roger D RD; Clément, Karine K; Farooqi, I Sadaf IS; Van der Ploeg, Lex H T LHT

Publication Date: 2017-10

Variant appearance in text: MC4R: R165W

PubMed Link: 29031731

Variant Present in the following documents:

• mmc1.pdf

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Monitoring G protein-coupled receptor and β-arrestin trafficking in live cells using enhanced bystander BRET.

Nature Communications

Namkung, Yoon Y; Le Gouill, Christian C; Lukashova, Viktoria V; Kobayashi, Hiroyuki H; Hogue, Mireille M; Khoury, Etienne E; Song, Mideum M; Bouvier, Michel M; Laporte, Stéphane A SA

Publication Date: 2016-07-11

Variant appearance in text: MC4R: R165W

PubMed Link: 27397672

Variant Present in the following documents:

• Main text
• ncomms12178.pdf
• ncomms12178-s1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs13447332

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MC4R: R165W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

International Journal Of Biological Sciences

He, Shan S; Tao, Ya-Xiong YX

Publication Date: 2014

Variant appearance in text: MC4R: R165W

PubMed Link: 25332687

Variant Present in the following documents:

• Main text
• ijbsv10p1128.pdf

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Obesity-associated melanocortin-4 receptor mutations are associated with changes in the brain response to food cues.

The Journal Of Clinical Endocrinology And Metabolism

van der Klaauw, Agatha A AA; von dem Hagen, Elisabeth A H EA; Keogh, Julia M JM; Henning, Elana E; O'Rahilly, Stephen S; Lawrence, Andrew D AD; Calder, Andrew J AJ; Farooqi, I Sadaf IS

Publication Date: 2014-10

Variant appearance in text: MC4R: R165W

PubMed Link: 25062455

Variant Present in the following documents:

• Main text

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Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.

Plos One

Scherag, André A; Jarick, Ivonne I; Grothe, Jessica J; Biebermann, Heike H; Scherag, Susann S; Volckmar, Anna-Lena AL; Vogel, Carla Ivane Ganz CI; Greene, Brandon B; Hebebrand, Johannes J; Hinney, Anke A

Publication Date: 2010-11-15

Variant appearance in text: MC4R: Arg165Trp

PubMed Link: 21085626

Variant Present in the following documents:

• Main text
• pone.0013967.pdf

View BVdb publication page

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Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone.

Molecular Endocrinology (Baltimore, Md.)

Granell, Susana S; Mohammad, Sameer S; Ramanagoudr-Bhojappa, Ramanagouda R; Baldini, Giulia G

Publication Date: 2010-09

Variant appearance in text: MC4R: R165W

PubMed Link: 20631012

Variant Present in the following documents:

• Main text

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Comparative sequence and structural analyses of G-protein-coupled receptor crystal structures and implications for molecular models.

Plos One

Worth, Catherine L CL; Kleinau, Gunnar G; Krause, Gerd G

Publication Date: 2009-09-16

Variant appearance in text: MC4R: R165W

PubMed Link: 19756152

Variant Present in the following documents:

• Main text

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Pertussis toxin-sensitive signaling of melanocortin-4 receptors in hypothalamic GT1-7 cells defines agouti-related protein as a biased agonist.

The Journal Of Biological Chemistry

Büch, Thomas R H TR; Heling, Dominik D; Damm, Ellen E; Gudermann, Thomas T; Breit, Andreas A

Publication Date: 2009-09-25

Variant appearance in text: MC4R: R165W

PubMed Link: 19648111

Variant Present in the following documents:

• Main text

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Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology

Tan, Karen K; Pogozheva, Irina D ID; Yeo, Giles S H GS; Hadaschik, Dirk D; Keogh, Julia M JM; Haskell-Leuvano, Carrie C; O'Rahilly, Stephen S; Mosberg, Henry I HI; Farooqi, I Sadaf IS

Publication Date: 2009-01

Variant appearance in text: MC4R: R165W

PubMed Link: 18801902

Variant Present in the following documents:

• Main text

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Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Diabetes

Stutzmann, Fanny F; Tan, Karen K; Vatin, Vincent V; Dina, Christian C; Jouret, Béatrice B; Tichet, Jean J; Balkau, Beverley B; Potoczna, Natascha N; Horber, Fritz F; O'Rahilly, Stephen S; Farooqi, I Sadaf IS; Froguel, Philippe P; Meyre, David D

Publication Date: 2008-09

Variant appearance in text: MC4R: R165W

PubMed Link: 18559663

Variant Present in the following documents:

• Main text
• 2511.pdf

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Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

The Journal Of Clinical Investigation

Farooqi, I S IS; Yeo, G S GS; Keogh, J M JM; Aminian, S S; Jebb, S A SA; Butler, G G; Cheetham, T T; O'Rahilly, S S

Publication Date: 2000-07

Variant appearance in text: MC4R: R165W

PubMed Link: 10903343

Variant Present in the following documents:

• Main text

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