View in EDS

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Saved in:
Bibliographic Details
Title: Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Authors: Fichtman B; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Biran N; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Zagairy F; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Salzberg Y; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel., Gilboa T; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel., Salah S; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Shaag A; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Simanovsky N; Department of Medical Imaging, Hadassah Medical Center, Jerusalem 91240, Israel., Ayoubieh H; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Punzi G; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy., Pierri CL; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel., Elpeleg O; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Harel A; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel. Electronic address: amnon.harel@biu.ac.il., Edvardson S; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
Source: American journal of human genetics [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 48-64. Date of Electronic Publication: 2019 Jun 06.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31178128
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Fichtman+B%22">Fichtman B</searchLink>; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.<br /><searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.<br /><searchLink fieldCode="AU" term="%22Biran+N%22">Biran N</searchLink>; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.<br /><searchLink fieldCode="AU" term="%22Zagairy+F%22">Zagairy F</searchLink>; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.<br /><searchLink fieldCode="AU" term="%22Salzberg+Y%22">Salzberg Y</searchLink>; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.<br /><searchLink fieldCode="AU" term="%22Gilboa+T%22">Gilboa T</searchLink>; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel.<br /><searchLink fieldCode="AU" term="%22Salah+S%22">Salah S</searchLink>; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.<br /><searchLink fieldCode="AU" term="%22Shaag+A%22">Shaag A</searchLink>; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.<br /><searchLink fieldCode="AU" term="%22Simanovsky+N%22">Simanovsky N</searchLink>; Department of Medical Imaging, Hadassah Medical Center, Jerusalem 91240, Israel.<br /><searchLink fieldCode="AU" term="%22Ayoubieh+H%22">Ayoubieh H</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel.<br /><searchLink fieldCode="AU" term="%22Sobreira+N%22">Sobreira N</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel.<br /><searchLink fieldCode="AU" term="%22Punzi+G%22">Punzi G</searchLink>; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Pierri+CL%22">Pierri CL</searchLink>; Laboratory of Biochemistry, Molecular and Computational Biology; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Hamosh+A%22">Hamosh A</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Baylor-Hopkins Center for Mendelian Genomics, Jerusalem 91240, Israel, Jerusalem 91240, Israel.<br /><searchLink fieldCode="AU" term="%22Elpeleg+O%22">Elpeleg O</searchLink>; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.<br /><searchLink fieldCode="AU" term="%22Harel+A%22">Harel A</searchLink>; Azrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel. Electronic address: amnon.harel@biu.ac.il.<br /><searchLink fieldCode="AU" term="%22Edvardson+S%22">Edvardson S</searchLink>; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 48-64. <i>Date of Electronic Publication: </i>2019 Jun 06.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31178128
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2019.05.003
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 48
    Titles:
      – TitleFull: Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Fichtman B
      – PersonEntity:
          Name:
            NameFull: Harel T
      – PersonEntity:
          Name:
            NameFull: Biran N
      – PersonEntity:
          Name:
            NameFull: Zagairy F
      – PersonEntity:
          Name:
            NameFull: Applegate CD
      – PersonEntity:
          Name:
            NameFull: Salzberg Y
      – PersonEntity:
          Name:
            NameFull: Gilboa T
      – PersonEntity:
          Name:
            NameFull: Salah S
      – PersonEntity:
          Name:
            NameFull: Shaag A
      – PersonEntity:
          Name:
            NameFull: Simanovsky N
      – PersonEntity:
          Name:
            NameFull: Ayoubieh H
      – PersonEntity:
          Name:
            NameFull: Sobreira N
      – PersonEntity:
          Name:
            NameFull: Punzi G
      – PersonEntity:
          Name:
            NameFull: Pierri CL
      – PersonEntity:
          Name:
            NameFull: Hamosh A
      – PersonEntity:
          Name:
            NameFull: Elpeleg O
      – PersonEntity:
          Name:
            NameFull: Harel A
      – PersonEntity:
          Name:
            NameFull: Edvardson S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 07
              Text: 2019 Jul 03
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 105
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1