Search Results - (Author, Cooperation:H. Coon)

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  1. 1
    S. De Rubeis ; X. He ; A. P. Goldberg ; C. S. Poultney ; K. Samocha ; A. E. Cicek ; Y. Kou ; L. Liu ; M. Fromer ; S. Walker ; T. Singh ; L. Klei ; J. Kosmicki ; F. Shih-Chen ; B. Aleksic ; M. Biscaldi ; P. F. Bolton ; J. M. Brownfeld ; J. Cai ; N. G. Campbell ; A. Carracedo ; M. H. Chahrour ; A. G. Chiocchetti ; H. Coon ; E. L. Crawford ; S. R. Curran ; G. Dawson ; E. Duketis ; B. A. Fernandez ; L. Gallagher ; E. Geller ; S. J. Guter ; R. S. Hill ; J. Ionita-Laza ; P. Jimenz Gonzalez ; H. Kilpinen ; S. M. Klauck ; A. Kolevzon ; I. Lee ; I. Lei ; J. Lei ; T. Lehtimaki ; C. F. Lin ; A. Ma'ayan ; C. R. Marshall ; A. L. McInnes ; B. Neale ; M. J. Owen ; N. Ozaki ; M. Parellada ; J. R. Parr ; S. Purcell ; K. Puura ; D. Rajagopalan ; K. Rehnstrom ; A. Reichenberg ; A. Sabo ; M. Sachse ; S. J. Sanders ; C. Schafer ; M. Schulte-Ruther ; D. Skuse ; C. Stevens ; P. Szatmari ; K. Tammimies ; O. Valladares ; A. Voran ; W. Li-San ; L. A. Weiss ; A. J. Willsey ; T. W. Yu ; R. K. Yuen ; E. H. Cook ; C. M. Freitag ; M. Gill ; C. M. Hultman ; T. Lehner ; A. Palotie ; G. D. Schellenberg ; P. Sklar ; M. W. State ; J. S. Sutcliffe ; C. A. Walsh ; S. W. Scherer ; M. E. Zwick ; J. C. Barett ; D. J. Cutler ; K. Roeder ; B. Devlin ; M. J. Daly ; J. D. Buxbaum
    Nature Publishing Group (NPG)
    Published 2014
    Staff View
    Publication Date:
    2014-11-05
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Amino Acid Sequence ; Child Development Disorders, Pervasive/*genetics/pathology ; Chromatin/*genetics/metabolism ; Chromatin Assembly and Disassembly ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Germ-Line Mutation/genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation/*genetics ; Mutation, Missense/genetics ; Nerve Net/metabolism ; Odds Ratio ; Synapses/*metabolism ; Transcription, Genetic/*genetics
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Publication Date:
    2018-12-14
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Geosciences
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Development, Genetics, Neuroscience, Online Only
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    ISSN:
    0378-1119
    Keywords:
    Parvovirus ; cloning in E. coli plasmid pAll ; eukaryotic vector ; polylinker ; recombinant DNA ; transfection
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  4. 4
    Myles-Worsley, M. ; Coon, H. ; Elliot, J. ; Freedman, R.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0920-9964
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  5. 5
    Chung, S.Y. ; Lei, J. ; Liu, Z.Y. ; Coon, H. ; Hilt, D.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    1044-7431
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0920-9964
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0920-9964
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  8. 8
    Coon, H. ; Carey, G. ; Fulker, D.W.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0160-2896
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  9. 9
    Coon, H. ; Carey, G. ; Fulker, D.W. ; DeFries, J.C.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0160-2896
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract. The melanocortin-4 receptor (MC4R) is a seven, transmembrane G-protein-coupled receptor whose ligand, α-melanocyte-stimulating hormone (α-MSH), is a post-translational derivative of pro-opiomelanocortin (POMC). The regulatory pathway, of which MC4R is a part, has become an area of intense interest because of its potential role in obesity. Three studies have identified individuals with dominantly inherited obesity segregating with mutations in the MC4R gene. It has been hypothesized that the mutation found in these subjects resulted in a loss of gene function resulting in obesity due to haploinsufficiency of the MC4R gene. We have been studying the molecular basis of the phenotype of individuals with large deletions of chromosome 18q. Due to its location at 18q21.3, the MC4R gene is hemizygous in approximately one-third of the individuals in our study. If hemizygosity of the MC4R gene results in haploinsufficiency-induced obesity, then individuals with deletions of 18q whose deletions include the MC4R gene should be obese in comparison with those individuals whose deletion does not include the gene. Our data indicate no difference in obesity among those deleted and not deleted for the gene. This supports the hypothesis that the MC4R gene product is haplosufficient and the involvement of MC4R in obesity may reflect a dominant negative effect.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses