1 Ocak 2017 Dergi makalesi Açık Erişim

Gordon, Christopher T.; Xue, Shifeng; Yigit, Goekhan; Filali, Hicham; Chen, Kelan; Rosins, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J.; McGowan, Ruth; Magee, Alex C.; Altmueller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D.; Nuernberg, Peter; Meschede, Dieter; Muehlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Varghese, Vinod

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    "creators": [
      {
        "name": "Gordon, Christopher T."
      }, 
      {
        "name": "Xue, Shifeng"
      }, 
      {
        "affiliation": "Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany", 
        "name": "Yigit, Goekhan"
      }, 
      {
        "name": "Filali, Hicham"
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      {
        "name": "Chen, Kelan"
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      {
        "affiliation": "Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany", 
        "name": "Rosins, Nadine"
      }, 
      {
        "affiliation": "Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki, Japan", 
        "name": "Yoshiura, Koh-ichiro"
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      {
        "name": "Oufadem, Myriam"
      }, 
      {
        "name": "Beck, Tamara J."
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      {
        "affiliation": "Queen Elizabeth Univ Hosp, West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland", 
        "name": "McGowan, Ruth"
      }, 
      {
        "affiliation": "Belfast City Hosp, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland", 
        "name": "Magee, Alex C."
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      {
        "name": "Altmueller, Janine"
      }, 
      {
        "affiliation": "Aix Marseille Univ, INSERM, Genet Med & Genom Fonct, UMRS 910, Marseille, France", 
        "name": "Dion, Camille"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Thiele, Holger"
      }, 
      {
        "name": "Gurzau, Alexandra D."
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      {
        "name": "Nuernberg, Peter"
      }, 
      {
        "name": "Meschede, Dieter"
      }, 
      {
        "affiliation": "ATOS Klin Munchen, Plast & Asthet Chirurg, Munich, Germany", 
        "name": "Muehlbauer, Wolfgang"
      }, 
      {
        "name": "Okamoto, Nobuhiko"
      }, 
      {
        "affiliation": "Univ Wales Hosp, Inst Med Genet, Cardiff, S Glam, Wales", 
        "name": "Varghese, Vinod"
      }, 
      {
        "affiliation": "Univ Wales Hosp, Inst Med Genet, Cardiff, S Glam, Wales", 
        "name": "Varghese, Vinod"
      }
    ], 
    "description": "Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.", 
    "doi": "10.1038/ng.3765", 
    "has_grant": false, 
    "journal": {
      "issue": "2", 
      "pages": "249-255", 
      "title": "NATURE GENETICS", 
      "volume": "49"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2017-01-01", 
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    "resource_type": {
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      "title": "Dergi makalesi", 
      "type": "publication"
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    "title": "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development"
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