Publications:

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Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.

Frontiers In Endocrinology

Šket, Robert R; Kotnik, Primož P; Bizjan, Barbara Jenko BJ; Kocen, Valentina V; Mlinarič, Matej M; Tesovnik, Tine T; Debeljak, Maruša M; Battelino, Tadej T; Kovač, Jernej J

Publication Date: 2022

Variant appearance in text: MC4R: 542G>A

PubMed Link: 35574020

Variant Present in the following documents:

• DataSheet_1.pdf

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Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.

International Journal Of Obesity (2005)

Trier, Cæcilie C; Hollensted, Mette M; Schnurr, Theresia M TM; Lund, Morten Asp Vonsild MAV; Nielsen, Tenna Ruest Haarmark TRH; Rui, Gao G; Andersson, Ehm Astrid EA; Svendstrup, Mathilde M; Bille, Dorthe Sadowa DS; Gjesing, Anette P AP; Fonvig, Cilius Esmann CE; Frithioff-Bøjsøe, Christine C; Balslev-Harder, Marie M; Quan, Shi S; Gamborg, Michael M; Pedersen, Oluf O; Ängquist, Lars L; Holm, Jens-Christian JC; Hansen, Torben T

Publication Date: 2021-01

Variant appearance in text: MC4R: 542G>A; G181D; rs13447333

PubMed Link: 32921795

Variant Present in the following documents:

• Main text
• 41366_2020_Article_673.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: G181D

PubMed Link: 31700171

Variant Present in the following documents:

• EMS84473-supplement-Supplementary_Tables.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: MC4R: G181D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Relationships between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the occurrence of selected metabolic and hormonal disorders in middle-aged and elderly men - a preliminary study.

Clinical Interventions In Aging

Rotter, Iwona I; Skonieczna-Żydecka, Karolina K; Kosik-Bogacka, Danuta D; Adler, Grażyna G; Rył, Aleksandra A; Laszczyńska, Maria M

Publication Date: 2016

Variant appearance in text: MC4R: G181D

PubMed Link: 27920511

Variant Present in the following documents:

• Main text
• cia-11-1723.pdf

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: MC4R: G181D

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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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: MC4R: G181D; rs13447333

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: G181D

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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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MC4R: G181D; rs13447333

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Hypogonadotropic hypogonadism in a homozygous MC4R mutation carrier and the effect of sibutramine treatment on body weight and obesity-related health risks.

Obesity Facts

Hainerová, Irena Aldhoon IA; Zamrazilová, Hana H; Sedláčková, Dana D; Hainer, Vojtěch V

Publication Date: 2011

Variant appearance in text: MC4R: G181D

PubMed Link: 21921657

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: Gly181Asp

PubMed Link: 21085626

Variant Present in the following documents:

• Main text
• pone.0013967.pdf

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Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

Obesity Facts

Beckers, Sigri S; Zegers, Doreen D; de Freitas, Fenna F; Peeters, Armand V AV; Verhulst, Stijn L SL; Massa, Guy G; Van Gaal, Luc F LF; Timmermans, Jean-Pierre JP; Desager, Kristine N KN; Van Hul, Wim W

Publication Date: 2010-10

Variant appearance in text: MC4R: G181D

PubMed Link: 20975296

Variant Present in the following documents:

• Main text

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Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Biochemistry

Xiang, Zhimin Z; Proneth, Bettina B; Dirain, Marvin L ML; Litherland, Sally A SA; Haskell-Luevano, Carrie C

Publication Date: 2010-06-08

Variant appearance in text: MC4R: G181D

PubMed Link: 20462274

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: G181D

PubMed Link: 19648111

Variant Present in the following documents:

• Main text

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In silico mutagenesis: a case study of the melanocortin 4 receptor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Bromberg, Yana Y; Overton, John J; Vaisse, Christian C; Leibel, Rudolph L RL; Rost, Burkhard B

Publication Date: 2009-09

Variant appearance in text: MC4R: G181D

PubMed Link: 19417090

Variant Present in the following documents:

View BVdb publication page

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