Literature DB >> 10903333

Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?

R D Cone1.   

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Year:  2000        PMID： 10903333      PMCID： PMC314319          DOI： 10.1172/JCI10628

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  27 in total

1.  Constitutively active mutants of rhodopsin.

Authors:  P R Robinson; G B Cohen; E A Zhukovsky; D D Oprian
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2.  Molecular characterization of the mouse agouti locus.

Authors:  S J Bultman; E J Michaud; R P Woychik
Journal:  Cell       Date:  1992-12-24       Impact factor: 41.582

3.  Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q.

Authors:  J D Cody; X T Reveles; D E Hale; D Lehman; H Coon; R J Leach
Journal:  Hum Genet       Date:  1999-11       Impact factor: 4.132

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

Authors:  I S Farooqi; G S Yeo; J M Keogh; S Aminian; S A Jebb; G Butler; T Cheetham; S O'Rahilly
Journal:  J Clin Invest       Date:  2000-07       Impact factor: 14.808

5.  Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.

Authors:  C Vaisse; K Clement; E Durand; S Hercberg; B Guy-Grand; P Froguel
Journal:  J Clin Invest       Date:  2000-07       Impact factor: 14.808

6.  Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene.

Authors:  M Sina; A Hinney; A Ziegler; T Neupert; H Mayer; W Siegfried; W F Blum; H Remschmidt; J Hebebrand
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

7.  Functional characterization of mutations in melanocortin-4 receptor associated with human obesity.

Authors:  G Ho; R G MacKenzie
Journal:  J Biol Chem       Date:  1999-12-10       Impact factor: 5.157

8.  Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin.

Authors:  F F Chehab; M E Lim; R Lu
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

9.  Fasting regulates hypothalamic neuropeptide Y, agouti-related peptide, and proopiomelanocortin in diabetic mice independent of changes in leptin or insulin.

Authors:  T M Mizuno; H Makimura; J Silverstein; J L Roberts; T Lopingco; C V Mobbs
Journal:  Endocrinology       Date:  1999-10       Impact factor: 4.736

10.  Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation.

Authors:  M W Miller; D M Duhl; H Vrieling; S P Cordes; M M Ollmann; B M Winkes; G S Barsh
Journal:  Genes Dev       Date:  1993-03       Impact factor: 11.361
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  9 in total

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Journal:  Mol Biol Rep       Date:  2011-06-04       Impact factor: 2.316

2.  Targeted deletion of one or two copies of the G protein β subunit Gβ5 gene has distinct effects on body weight and behavior in mice.

Authors:  Qiang Wang; Konstantin Levay; Tatyana Chanturiya; Galina Dvoriantchikova; Karen L Anderson; Suzy D C Bianco; Cintia B Ueta; R Damaris Molano; Antonello Pileggi; Eugenia V Gurevich; Oksana Gavrilova; Vladlen Z Slepak
Journal:  FASEB J       Date:  2011-07-30       Impact factor: 5.191

3.  Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly.

Authors:  Gregory J Tranah; Ernest T Lam; Shana M Katzman; Michael A Nalls; Yiqiang Zhao; Daniel S Evans; Jennifer S Yokoyama; Ludmila Pawlikowska; Pui-Yan Kwok; Sean Mooney; Stephen Kritchevsky; Bret H Goodpaster; Anne B Newman; Tamara B Harris; Todd M Manini; Steven R Cummings
Journal:  Biochim Biophys Acta       Date:  2012-05-31

4.  A genome-wide association study of aging.

Authors:  Stefan Walter; Gil Atzmon; Ellen W Demerath; Melissa E Garcia; Robert C Kaplan; Meena Kumari; Kathryn L Lunetta; Yuri Milaneschi; Toshiko Tanaka; Gregory J Tranah; Uwe Völker; Lei Yu; Alice Arnold; Emelia J Benjamin; Reiner Biffar; Aron S Buchman; Eric Boerwinkle; David Couper; Philip L De Jager; Denis A Evans; Tamara B Harris; Wolfgang Hoffmann; Albert Hofman; David Karasik; Douglas P Kiel; Thomas Kocher; Maris Kuningas; Lenore J Launer; Kurt K Lohman; Pamela L Lutsey; Johan Mackenbach; Kristin Marciante; Bruce M Psaty; Eric M Reiman; Jerome I Rotter; Sudha Seshadri; Michelle D Shardell; Albert V Smith; Cornelia van Duijn; Jeremy Walston; M Carola Zillikens; Stefania Bandinelli; Sebastian E Baumeister; David A Bennett; Luigi Ferrucci; Vilmundur Gudnason; Mika Kivimaki; Yongmei Liu; Joanne M Murabito; Anne B Newman; Henning Tiemeier; Nora Franceschini
Journal:  Neurobiol Aging       Date:  2011-07-22       Impact factor: 4.673

5.  Functional characterization of nine novel naturally occurring human melanocortin-3 receptor mutations.

Authors:  Fan Yang; Ya-Xiong Tao
Journal:  Biochim Biophys Acta       Date:  2012-08-03

6.  Characterization of a novel binding partner of the melanocortin-4 receptor: attractin-like protein.

Authors:  Andrea M Haqq; Patricia René; Toshiro Kishi; Kathy Khong; Charlotte E Lee; Hongyan Liu; Jeffrey M Friedman; Joel K Elmquist; Roger D Cone
Journal:  Biochem J       Date:  2003-12-15       Impact factor: 3.857

7.  Orexin-A represses satiety-inducing POMC neurons and contributes to obesity via stimulation of endocannabinoid signaling.

Authors:  Giovanna Morello; Roberta Imperatore; Letizia Palomba; Carmine Finelli; Giuseppe Labruna; Fabrizio Pasanisi; Lucia Sacchetti; Lorena Buono; Fabiana Piscitelli; Pierangelo Orlando; Vincenzo Di Marzo; Luigia Cristino
Journal:  Proc Natl Acad Sci U S A       Date:  2016-04-11       Impact factor: 11.205

8.  An intrinsic gut leptin-melanocortin pathway modulates intestinal microsomal triglyceride transfer protein and lipid absorption.

Authors:  Jahangir Iqbal; Xiaosong Li; Benny Hung-Junn Chang; Lawrence Chan; Gary J Schwartz; Streamson C Chua; M Mahmood Hussain
Journal:  J Lipid Res       Date:  2010-02-17       Impact factor: 5.922

9.  Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.

Authors:  Nicola Santoro; Grazia Cirillo; Zhimin Xiang; Rita Tanas; Nella Greggio; Giuseppe Morino; Lorenzo Iughetti; Alessandra Vottero; Alessandro Salvatoni; Mario Di Pietro; Antonio Balsamo; Antonino Crinò; Anna Grandone; Carrie Haskell-Luevano; Laura Perrone; Emanuele Miraglia del Giudice
Journal:  BMC Med Genet       Date:  2009-03-12       Impact factor: 2.103
  9 in total

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