These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 20054175)

  • 1. A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R.
    Tarnow P; Rediger A; Brumm H; Ambrugger P; Rettenbacher E; Widhalm K; Hinney A; Kleinau G; Schaefer M; Hebebrand J; Krause G; Grüters A; Biebermann H
    Obes Facts; 2008; 1(3):155-62. PubMed ID: 20054175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.
    Biebermann H; Krude H; Elsner A; Chubanov V; Gudermann T; Grüters A
    Diabetes; 2003 Dec; 52(12):2984-8. PubMed ID: 14633860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.
    Rettenbacher E; Tarnow P; Brumm H; Prayer D; Wermter AK; Hebebrand J; Biebermann H; Hinney A; Widhalm K
    Exp Clin Endocrinol Diabetes; 2007 Jan; 115(1):7-12. PubMed ID: 17286227
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inhibition of melanocortin-4 receptor dimerization by substitutions in intracellular loop 2.
    Piechowski CL; Rediger A; Lagemann C; Mühlhaus J; Müller A; Pratzka J; Tarnow P; Grüters A; Krude H; Kleinau G; Biebermann H
    J Mol Endocrinol; 2013; 51(1):109-18. PubMed ID: 23674133
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.
    Drabkin M; Birk OS; Birk R
    BMC Med Genet; 2018 Aug; 19(1):135. PubMed ID: 30068297
    [TBL] [Abstract][Full Text] [Related]  

  • 6. MC4R oligomerizes independently of extracellular cysteine residues.
    Elsner A; Tarnow P; Schaefer M; Ambrugger P; Krude H; Grüters A; Biebermann H
    Peptides; 2006 Feb; 27(2):372-9. PubMed ID: 16289450
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification and functional characterization of novel mutations in the melanocortin-4 receptor.
    Beckers S; Zegers D; de Freitas F; Peeters AV; Verhulst SL; Massa G; Van Gaal LF; Timmermans JP; Desager KN; Van Hul W
    Obes Facts; 2010 Oct; 3(5):304-11. PubMed ID: 20975296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.
    Ochoa MC; Azcona C; Biebermann H; Brumm H; Razquin C; Wermter AK; Martínez JA; Hebebrand J; Hinney A; Moreno-Aliaga MJ; Marti A; Patiño A; Chueca M; Oyarzabal M; Pelach R;
    Clin Endocrinol (Oxf); 2007 May; 66(5):652-8. PubMed ID: 17492953
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.
    Hainerová I; Larsen LH; Holst B; Finková M; Hainer V; Lebl J; Hansen T; Pedersen O
    J Clin Endocrinol Metab; 2007 Sep; 92(9):3689-96. PubMed ID: 17579204
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
    Lubrano-Berthelier C; Dubern B; Lacorte JM; Picard F; Shapiro A; Zhang S; Bertrais S; Hercberg S; Basdevant A; Clement K; Vaisse C
    J Clin Endocrinol Metab; 2006 May; 91(5):1811-8. PubMed ID: 16507637
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Novel Loss of Function Melanocortin-4-Receptor Mutation (MC4R-F313Sfs*29) in Morbid Obesity.
    Trevellin E; Granzotto M; Host C; Grisan F; De Stefani D; Grinzato A; Lefkimmiatis K; Pagano C; Rizzuto R; Vettor R
    J Clin Endocrinol Metab; 2021 Mar; 106(3):736-749. PubMed ID: 33247923
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.
    Brouwers B; de Oliveira EM; Marti-Solano M; Monteiro FBF; Laurin SA; Keogh JM; Henning E; Bounds R; Daly CA; Houston S; Ayinampudi V; Wasiluk N; Clarke D; Plouffe B; Bouvier M; Babu MM; Farooqi IS; Mokrosiński J
    Cell Rep; 2021 Mar; 34(12):108862. PubMed ID: 33761344
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
    Tan K; Pogozheva ID; Yeo GS; Hadaschik D; Keogh JM; Haskell-Leuvano C; O'Rahilly S; Mosberg HI; Farooqi IS
    Endocrinology; 2009 Jan; 150(1):114-25. PubMed ID: 18801902
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.
    Melchior C; Schulz A; Windholz J; Kiess W; Schöneberg T; Körner A
    Horm Res Paediatr; 2012; 78(4):237-46. PubMed ID: 23146882
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.
    Granell S; Serra-Juhé C; Martos-Moreno GÁ; Díaz F; Pérez-Jurado LA; Baldini G; Argente J
    PLoS One; 2012; 7(12):e50894. PubMed ID: 23251400
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.
    Rong R; Tao YX; Cheung BM; Xu A; Cheung GC; Lam KS
    Clin Endocrinol (Oxf); 2006 Aug; 65(2):198-205. PubMed ID: 16886960
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population].
    Zakel UA; Wudy SA; Heinzel-Gutenbrunner M; Görg T; Schäfer H; Gortner L; Blum WF; Hebebrand J; Hinney A
    Klin Padiatr; 2005; 217(4):244-9. PubMed ID: 16032553
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
    Farooqi IS; Yeo GS; Keogh JM; Aminian S; Jebb SA; Butler G; Cheetham T; O'Rahilly S
    J Clin Invest; 2000 Jul; 106(2):271-9. PubMed ID: 10903343
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterodimerization of hypothalamic G-protein-coupled receptors involved in weight regulation.
    Rediger A; Tarnow P; Bickenbach A; Schaefer M; Krude H; Gruters A; Biebermann H
    Obes Facts; 2009; 2(2):80-6. PubMed ID: 20054210
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Signal pathway analysis of selected obesity-associated melanocortin-4 receptor class V mutants.
    Sharma S; Thibodeau S; Lytton J
    Biochim Biophys Acta Mol Basis Dis; 2020 Aug; 1866(8):165835. PubMed ID: 32423884
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.