MC4R c.307G>A ;(p.V103I)

Variant ID: 18-58039276-C-T

NM_005912.2(MC4R):c.307G>A;(p.V103I)

This variant was identified in 150 publications

View GRCh38 version.




Publications:


Validation of Genome-Wide Association Studies (GWAS)-Identified Type 2 Diabetes Mellitus Risk Variants in Pakistani Pashtun Population.

Journal Of The Asean Federation Of Endocrine Societies
Jan, Asif A; Zakiullah, ; Khuda, Fazli F; Akbar, Rani R
Publication Date: 2023

Variant appearance in text: rs2229616
PubMed Link: 37234928
Variant Present in the following documents:
  • JAFES-38-S1-55.pdf
View BVdb publication page



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: Val103Ile
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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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: MC4R: V103I; rs2229616
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Sun, Yingkai Y; Zhang, Juan J; Hong, Jie J; Zhang, Zhongyun Z; Lu, Peng P; Gao, Aibo A; Ni, Mengshan M; Zhang, Zhiyin Z; Yang, Huanjie H; Shen, Juan J; Lu, Jieli J; Xue, Wenzhi W; Lv, Qianqian Q; Bi, Yufang Y; Zeng, Yi Arial YA; Gu, Weiqiong W; Ning, Guang G; Wang, Weiqing W; Liu, Ruixin R; Wang, Jiqiu J
Publication Date: 2023-02-08

Variant appearance in text: MC4R: V103I; rs2229616
PubMed Link: 36755192
Variant Present in the following documents:
  • ADVS-10-2207152.pdf
View BVdb publication page



Mendelian randomisation study of body composition and depression in people of East Asian ancestry highlights potential setting-specific causality.

Bmc Medicine
O'Loughlin, Jessica J; Casanova, Francesco F; Fairhurst-Hunter, Zammy Z; Hughes, Amanda A; Bowden, Jack J; Watkins, Edward R ER; Freathy, Rachel M RM; Millwood, Iona Y IY; Lin, Kuang K; Chen, Zhengming Z; Li, Liming L; Lv, Jun J; , ; Walters, Robin G RG; Howe, Laura D LD; Kuchenbaecker, Karoline K; Tyrrell, Jessica J
Publication Date: 2023-02-01

Variant appearance in text: rs2229616
PubMed Link: 36726144
Variant Present in the following documents:
  • Main text
  • 12916_2023_Article_2735.pdf
View BVdb publication page



Genetic Predictors of the Development of Complications after Coronary Stenting.

Journal Of Personalized Medicine
Taizhanova, Dana D; Kalimbetova, Akerke A; Bodaubay, Roza R; Toleuova, Aliya A; Toiynbekova, Rakhima R; Beysenbekova, Zhazira Z; Visternichan, Olga O; Tauesheva, Zauresh Z; Kadyrova, Irina I; Babenko, Dmitriy D; Akhmaltdinova, Lyudmila L; Kolesnichenko, Svetlana S; Kolesnikova, Yevgeniya Y; Avdienko, Olga V OV; Akilzhanova, Ainur A; Gerotziafas, Grigorios T GT
Publication Date: 2022-12-22

Variant appearance in text: rs2229616
PubMed Link: 36675675
Variant Present in the following documents:
  • jpm-13-00014.pdf
View BVdb publication page



The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.

Nature Reviews. Endocrinology
Hinney, Anke A; Körner, Antje A; Fischer-Posovszky, Pamela P
Publication Date: 2022-10

Variant appearance in text: MC4R: V103I
PubMed Link: 35902734
Variant Present in the following documents:
  • Main text
  • 41574_2022_Article_716.pdf
View BVdb publication page



Association between SNPs in Leptin Pathway Genes and Anthropometric, Biochemical, and Dietary Markers Related to Obesity.

Genes
Cadena-López, Ricardo Omar RO; Hernández-Rodríguez, Lourdes Vanessa LV; Aguilar-Galarza, Adriana A; García-Muñoz, Willebaldo W; Haddad-Talancón, Lorenza L; Anzures-Cortes, Ma de Lourdes ML; Velázquez-Sánchez, Claudia C; Flores-Viveros, Karla Lucero KL; Anaya-Loyola, Miriam Aracely MA; García-Gasca, Teresa T; Rodríguez-García, Víctor Manuel VM; Moreno-Celis, Ulisses U
Publication Date: 2022-05-25

Variant appearance in text: rs2229616
PubMed Link: 35741707
Variant Present in the following documents:
  • Main text
  • genes-13-00945.pdf
View BVdb publication page



Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology.

Scientific Reports
D'Silva, Sheldon S; Chakraborty, Shreya S; Kahali, Bratati B
Publication Date: 2022-05-04

Variant appearance in text: MC4R: V103I; rs2229616
PubMed Link: 35508500
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_11270.pdf
View BVdb publication page



Pathophysiological Role of Genetic Factors Associated With Gestational Diabetes Mellitus.

Frontiers In Physiology
Ortega-Contreras, B B; Armella, A A; Appel, J J; Mennickent, D D; Araya, J J; González, M M; Castro, E E; Obregón, A M AM; Lamperti, L L; Gutiérrez, J J; Guzmán-Gutiérrez, E E
Publication Date: 2022

Variant appearance in text: rs2229616
PubMed Link: 35450164
Variant Present in the following documents:
  • Main text
  • fphys-13-769924.pdf
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Fine Mapping of the MAP2K5 Region Identified rs7175517 as a Causal Variant Related to BMI in China and the United Kingdom Populations.

Frontiers In Genetics
Lu, Ce C; Wang, Hai-Jun HJ; Song, Jie-Yun JY; Wang, Shuo S; Li, Xue-Ying XY; Huang, Tao T; Wang, Hui H
Publication Date: 2022

Variant appearance in text: MC4R: V103I
PubMed Link: 35368675
Variant Present in the following documents:
  • fgene-13-838685.pdf
View BVdb publication page



Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency.

Frontiers In Endocrinology
Fojas, Esphie Grace Fodra EGF; Radha, Saradalekshmi Koramannil SK; Ali, Tomader T; Nadler, Evan P EP; Lessan, Nader N
Publication Date: 2021

Variant appearance in text: MC4R: V103I
PubMed Link: 35095762
Variant Present in the following documents:
  • Main text
  • fendo-12-792354.pdf
View BVdb publication page



Effect of dietary fat intake and genetic risk on glucose and insulin-related traits in Brazilian young adults.

Journal Of Diabetes And Metabolic Disorders
Alsulami, Sooad S; Cruvinel, Nathália Teixeira NT; da Silva, Nara Rubia NR; Antoneli, Ana Carolina AC; Lovegrove, Julie A JA; Horst, Maria Aderuza MA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2021-12

Variant appearance in text: rs2229616
PubMed Link: 34900785
Variant Present in the following documents:
  • Main text
  • 40200_2021_Article_863.pdf
View BVdb publication page



An Association between Diet and MC4R Genetic Polymorphism, in Relation to Obesity and Metabolic Parameters-A Cross Sectional Population-Based Study.

International Journal Of Molecular Sciences
Adamska-Patruno, Edyta E; Bauer, Witold W; Bielska, Dorota D; Fiedorczuk, Joanna J; Moroz, Monika M; Krasowska, Urszula U; Czajkowski, Przemyslaw P; Wielogorska, Marta M; Maliszewska, Katarzyna K; Puckowska, Sylwia S; Szczerbinski, Lukasz L; Lipinska, Danuta D; Gorska, Maria M; Kretowski, Adam A
Publication Date: 2021-11-07

Variant appearance in text: MC4R: V103I
PubMed Link: 34769477
Variant Present in the following documents:
  • ijms-22-12044.pdf
View BVdb publication page



A Clinical-Genetic Score for Predicting Weight Loss after Bariatric Surgery: The OBEGEN Study.

Journal Of Personalized Medicine
Ciudin, Andreea A; Fidilio, Enzamaría E; Gutiérrez-Carrasquilla, Liliana L; Caixàs, Assumpta A; Vilarrasa, Núria N; Pellitero, Silvia S; Simó-Servat, Andreu A; Vilallonga, Ramon R; Ruiz, Amador A; de la Fuente, Maricruz M; Luna, Alexis A; Sánchez, Enric E; Rigla, Mercedes M; Hernández, Cristina C; Salas, Eduardo E; Simó, Rafael R; Lecube, Albert A
Publication Date: 2021-10-17

Variant appearance in text: rs2229616
PubMed Link: 34683180
Variant Present in the following documents:
  • Main text
  • jpm-11-01040.pdf
View BVdb publication page



The genetics of obesity: from discovery to biology.

Nature Reviews. Genetics
Loos, Ruth J F RJF; Yeo, Giles S H GSH
Publication Date: 2022-02

Variant appearance in text: MC4R: V103I
PubMed Link: 34556834
Variant Present in the following documents:
  • 41576_2021_Article_414.pdf
View BVdb publication page



The genetics of obesity: from discovery to biology.

Nature Reviews. Genetics
Loos, Ruth J F RJF; Yeo, Giles S H GSH
Publication Date: 2021-09-23

Variant appearance in text: MC4R: V103I
PubMed Link: 34556834
Variant Present in the following documents:
  • 41576_2021_Article_414.pdf
View BVdb publication page



FTO-rs9939609 Polymorphism is a Predictor of Future Type 2 Diabetes: A Population-Based Prospective Study.

Biochemical Genetics
Binh, Tran Quang TQ; Linh, Duong Tuan DT; Chung, Le Thi Kim LTK; Phuong, Pham Tran PT; Nga, Bui Thi Thuy BTT; Ngoc, Nguyen Anh NA; Thuyen, Tran Quang TQ; Tung, Do Dinh DD; Nhung, Bui Thi BT
Publication Date: 2021-08-19

Variant appearance in text: rs2229616
PubMed Link: 34414523
Variant Present in the following documents:
  • Main text
  • 10528_2021_Article_10124.pdf
View BVdb publication page



FTO-rs9939609 Polymorphism is a Predictor of Future Type 2 Diabetes: A Population-Based Prospective Study.

Biochemical Genetics
Binh, Tran Quang TQ; Linh, Duong Tuan DT; Chung, Le Thi Kim LTK; Phuong, Pham Tran PT; Nga, Bui Thi Thuy BTT; Ngoc, Nguyen Anh NA; Thuyen, Tran Quang TQ; Tung, Do Dinh DD; Nhung, Bui Thi BT
Publication Date: 2022-04

Variant appearance in text: rs2229616
PubMed Link: 34414523
Variant Present in the following documents:
  • Main text
  • 10528_2021_Article_10124.pdf
View BVdb publication page



Association of CNR1 and INSIG2 polymorphisms with antipsychotics-induced weight gain: a prospective nested case-control study.

Scientific Reports
Jimeno, Natalia N; Velasco-Gonzalez, Veronica V; Fierro, Inmaculada I; Duran, Mercedes M; Carvajal, Alfonso A
Publication Date: 2021-07-27

Variant appearance in text: rs2229616
PubMed Link: 34315947
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94700.pdf
View BVdb publication page



Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Nature Medicine
Wade, Kaitlin H KH; Lam, Brian Y H BYH; Melvin, Audrey A; Pan, Warren W; Corbin, Laura J LJ; Hughes, David A DA; Rainbow, Kara K; Chen, Jian-Hua JH; Duckett, Katie K; Liu, Xiaoming X; Mokrosiński, Jacek J; Mörseburg, Alexander A; Neaves, Sam S; Williamson, Alice A; Zhang, Chen C; Farooqi, I Sadaf IS; Yeo, Giles S H GSH; Timpson, Nicholas J NJ; O'Rahilly, Stephen S
Publication Date: 2021-06

Variant appearance in text: MC4R: V103I; rs2229616
PubMed Link: 34045736
Variant Present in the following documents:
  • Main text
  • EMS136341.pdf
  • EMS136341-supplement-Supporting_Information.pdf
View BVdb publication page



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: V103I
PubMed Link: 33761344
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • mmc2.xlsx, sheet 1
View BVdb publication page



Interaction between Vitamin D-Related Genetic Risk Score and Carbohydrate Intake on Body Fat Composition: A Study in Southeast Asian Minangkabau Women.

Nutrients
Alathari, Buthaina E BE; Aji, Arif Sabta AS; Ariyasra, Utami U; Sari, Sri R SR; Tasrif, Nabila N; Yani, Finny F FF; Sudji, Ikhwan R IR; Lovegrove, Julie A JA; Lipoeto, Nur I NI; Vimaleswaran, Karani S KS
Publication Date: 2021-01-23

Variant appearance in text: rs2229616
PubMed Link: 33498618
Variant Present in the following documents:
  • Main text
  • nutrients-13-00326.pdf
View BVdb publication page



Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Frontiers In Genetics
Salum, Kaio Cezar Rodrigues KCR; de Souza, Guilherme Orofino GO; Abreu, Gabriella de Medeiros GM; Campos Junior, Mário M; Kohlrausch, Fabiana Barzotto FB; Carneiro, João Regis Ivar JRI; Nogueira Neto, José Firmino JF; Magno, Fernanda Cristina C Mattos FCCM; Rosado, Eliane Lopes EL; Palhinha, Lohanna L; Maya-Monteiro, Clarissa Menezes CM; de Cabello, Giselda Maria Kalil GMK; Cabello, Pedro Hernán PH; Bozza, Patrícia Torres PT; Zembrzuski, Verônica Marques VM; da Fonseca, Ana Carolina Proença ACP
Publication Date: 2020

Variant appearance in text: MC4R: 307G>A; Val103Ile; rs2229616
PubMed Link: 33362866
Variant Present in the following documents:
  • Main text
  • fgene-11-608840.pdf
View BVdb publication page



Melanocortin pathways: suppressed and stimulated melanocortin-4 receptor (MC4R).

Physiological Research
Hainer, V V; Aldhoon Hainerová, I I; Kunešová, M M; Taxová Braunerová, R R; Zamrazilová, H H; Bendlová, B B
Publication Date: 2020-09-30

Variant appearance in text: MC4R: V103I
PubMed Link: 33094623
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statistical and Machine-Learning Analyses in Nutritional Genomics Studies.

Nutrients
Khorraminezhad, Leila L; Leclercq, Mickael M; Droit, Arnaud A; Bilodeau, Jean-François JF; Rudkowska, Iwona I
Publication Date: 2020-10-14

Variant appearance in text: rs2229616
PubMed Link: 33066636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between the genetic risk score and dietary protein intake on cardiometabolic traits in Southeast Asian.

Genes & Nutrition
Alsulami, Sooad S; Aji, A S AS; Ariyasra, U U; Sari, S R SR; Tasrif, N N; Yani, F F FF; Lovegrove, J A JA; Sudji, I R IR; Lipoeto, N I NI; Vimaleswaran, K S KS
Publication Date: 2020-10-12

Variant appearance in text: rs2229616
PubMed Link: 33045981
Variant Present in the following documents:
  • Main text
View BVdb publication page



GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.

Frontiers In Endocrinology
Neocleous, Vassos V; Fanis, Pavlos P; Toumba, Meropi M; Tanteles, George A GA; Schiza, Melpo M; Cinarli, Feride F; Nicolaides, Nicolas C NC; Oulas, Anastasis A; Spyrou, George M GM; Mantzoros, Christos S CS; Vlachakis, Dimitrios D; Skordis, Nicos N; Phylactou, Leonidas A LA
Publication Date: 2020

Variant appearance in text: MC4R: Val103Ile
PubMed Link: 32982993
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: V103I; rs2229616
PubMed Link: 32952152
Variant Present in the following documents:
  • Main text
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 4
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



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: V103I
PubMed Link: 32949766
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 307G>A; V103I; rs2229616
PubMed Link: 32921795
Variant Present in the following documents:
  • Main text
  • 41366_2020_Article_673.pdf
View BVdb publication page



Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis
Bu, So Young SY
Publication Date: 2019-09

Variant appearance in text: rs2229616
PubMed Link: 32821703
Variant Present in the following documents:
  • Main text
  • jla-8-132.pdf
View BVdb publication page



Interaction between Metabolic Genetic Risk Score and Dietary Fatty Acid Intake on Central Obesity in a Ghanaian Population.

Nutrients
Alsulami, Sooad S; Nyakotey, David A DA; Dudek, Kamila K; Bawah, Abdul-Malik AM; Lovegrove, Julie A JA; Annan, Reginald A RA; Ellahi, Basma B; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2020-06-27

Variant appearance in text: rs2229616
PubMed Link: 32605047
Variant Present in the following documents:
  • Main text
  • nutrients-12-01906.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: MC4R: V103I; rs2229616
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Mutations in MC4R facilitate the angiogenic activity in patients with orbital venous malformation.

Experimental Biology And Medicine (Maywood, N.J.)
Huang, Xiao-Ming XM; Yang, Wan-Chen WC; Liu, Yang Y; Tang, Dong-Run DR; Wu, Tong T; Sun, Feng-Yuan FY
Publication Date: 2020-06

Variant appearance in text: MC4R: V103I
PubMed Link: 32363922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic Reprogramming in Health and Disease.

International Journal Of Molecular Sciences
Chiellini, Grazia G
Publication Date: 2020-04-16

Variant appearance in text: MC4R: V103I
PubMed Link: 32316318
Variant Present in the following documents:
  • Main text
  • ijms-21-02768.pdf
View BVdb publication page



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: V103I
PubMed Link: 32185475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.

International Journal Of Molecular Sciences
Paisdzior, Sarah S; Dimitriou, Ioanna Maria IM; Schöpe, Paul Curtis PC; Annibale, Paolo P; Scheerer, Patrick P; Krude, Heiko H; Lohse, Martin J MJ; Biebermann, Heike H; Kühnen, Peter P
Publication Date: 2020-02-12

Variant appearance in text: MC4R: V103I
PubMed Link: 32059383
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Effect Sizes of PPARγ rs1801282, FTO rs9939609, and MC4R rs2229616 Variants on Type 2 Diabetes Mellitus Risk among the Western Saudi Population: A Cross-Sectional Prospective Study.

Genes
Bakhashab, Sherin S; Filimban, Najlaa N; Altall, Rana M RM; Nassir, Rami R; Qusti, Safaa Y SY; Alqahtani, Mohammed H MH; Abuzenadah, Adel M AM; Dallol, Ashraf A
Publication Date: 2020-01-14

Variant appearance in text: MC4R: Val103Ile; rs2229616
PubMed Link: 31947684
Variant Present in the following documents:
  • Main text
  • genes-11-00098.pdf
View BVdb publication page



A nutrigenetic approach for investigating the relationship between vitamin B12 status and metabolic traits in Indonesian women.

Journal Of Diabetes And Metabolic Disorders
Surendran, S S; Aji, A S AS; Ariyasra, U U; Sari, S R SR; Malik, S G SG; Tasrif, N N; Yani, F F FF; Lovegrove, J A JA; Sudji, I R IR; Lipoeto, N I NI; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2019-12

Variant appearance in text: rs2229616
PubMed Link: 31890664
Variant Present in the following documents:
  • Main text
  • 40200_2019_Article_424.pdf
View BVdb publication page



Voice break in boys-temporal relations with other pubertal milestones and likely causal effects of BMI.

Human Reproduction (Oxford, England)
Busch, A S AS; Hollis, B B; Day, F R FR; Sørensen, K K; Aksglaede, L L; Perry, J R B JRB; Ong, K K KK; Juul, A A; Hagen, C P CP
Publication Date: 2019-08-01

Variant appearance in text: rs2229616
PubMed Link: 31348498
Variant Present in the following documents:
  • Main text
  • dez118.pdf
View BVdb publication page



Association Between Premorbid Body Mass Index and Amyotrophic Lateral Sclerosis: Causal Inference Through Genetic Approaches.

Frontiers In Neurology
Zeng, Ping P; Yu, Xinghao X; Xu, Haibo H
Publication Date: 2019

Variant appearance in text: rs2229616
PubMed Link: 31178821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin-4 Receptor and Lipocalin 2 Gene Variants in Spanish Children with Abdominal Obesity: Effects on BMI-SDS After a Lifestyle Intervention.

Nutrients
Morell-Azanza, Lydia L; Ojeda-Rodríguez, Ana A; Giuranna, Johanna J; Azcona-SanJulián, Mª Cristina MC; Hebebrand, Johannes J; Marti, Amelia A; Hinney, Anke A
Publication Date: 2019-04-26

Variant appearance in text: MC4R: Val103Ile
PubMed Link: 31035493
Variant Present in the following documents:
  • Main text
View BVdb publication page