View in EDS

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Saved in:
Bibliographic Details
Title: Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
Authors: Drutman SB; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Haerynck F; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium., Zhong FL; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Skin Research Institute of Singapore, 138648 Immunos, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, 636921 Singapore., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Hernandez NJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Belkaya S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., de Jong SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065., Creytens D; Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium.; Cancer Research Institute Ghent, Ghent University, 9000 Ghent, Belgium., Tavernier SJ; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.; Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Flanders Institute for Biotechnology, 9052 Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium., Bonte K; Department of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium., De Schepper S; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., van der Werff Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium., Lorenzo-Diaz L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Wullaert A; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Ghent University, 9000 Ghent, Belgium.; Center for Inflammation Research, Flanders Institute for Biotechnology, 9052 Ghent, Belgium., Bossuyt X; Department of Microbiology and Immunology, KU Leuven, 3000 Leuven, Belgium.; Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium., Orth G; Department of Virology, Pasteur Institute, 75015 Paris, France., Bonagura VR; Center for Immunology and Inflammation, The Feinstein Institutes for Medical Research, Manhasset, NY 11030.; Division of Allergy and Immunology, Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY 11549., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France., Reversade B; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Medical Genetics Department, Koç University School of Medicine, 34450 Istanbul, Turkey.; Reproductive Biology Laboratory, Amsterdam UMC Netherlands, 1105 AZ Amsterdam, The Netherlands., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065; casanova@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, 75015 Paris, France.; HHMI, The Rockefeller University, New York, NY 10065.
Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Sep 17; Vol. 116 (38), pp. 19055-19063. Date of Electronic Publication: 2019 Sep 04.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 31484767
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Drutman+SB%22">Drutman SB</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22Haerynck+F%22">Haerynck F</searchLink>; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Zhong+FL%22">Zhong FL</searchLink>; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Skin Research Institute of Singapore, 138648 Immunos, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, 636921 Singapore.<br /><searchLink fieldCode="AU" term="%22Hum+D%22">Hum D</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22Hernandez+NJ%22">Hernandez NJ</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22Belkaya+S%22">Belkaya S</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22Rapaport+F%22">Rapaport F</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22de+Jong+SJ%22">de Jong SJ</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.<br /><searchLink fieldCode="AU" term="%22Creytens+D%22">Creytens D</searchLink>; Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium.; Cancer Research Institute Ghent, Ghent University, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Tavernier+SJ%22">Tavernier SJ</searchLink>; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.; Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Flanders Institute for Biotechnology, 9052 Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Bonte+K%22">Bonte K</searchLink>; Department of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Schepper+S%22">De Schepper S</searchLink>; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22van+der+Werff+Ten+Bosch+J%22">van der Werff Ten Bosch J</searchLink>; Department of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium.<br /><searchLink fieldCode="AU" term="%22Lorenzo-Diaz+L%22">Lorenzo-Diaz L</searchLink>; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.<br /><searchLink fieldCode="AU" term="%22Wullaert+A%22">Wullaert A</searchLink>; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Ghent University, 9000 Ghent, Belgium.; Center for Inflammation Research, Flanders Institute for Biotechnology, 9052 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Bossuyt+X%22">Bossuyt X</searchLink>; Department of Microbiology and Immunology, KU Leuven, 3000 Leuven, Belgium.; Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Orth+G%22">Orth G</searchLink>; Department of Virology, Pasteur Institute, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Bonagura+VR%22">Bonagura VR</searchLink>; Center for Immunology and Inflammation, The Feinstein Institutes for Medical Research, Manhasset, NY 11030.; Division of Allergy and Immunology, Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, NY 11549.<br /><searchLink fieldCode="AU" term="%22Béziat+V%22">Béziat V</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.<br /><searchLink fieldCode="AU" term="%22Abel+L%22">Abel L</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.<br /><searchLink fieldCode="AU" term="%22Jouanguy+E%22">Jouanguy E</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.<br /><searchLink fieldCode="AU" term="%22Reversade+B%22">Reversade B</searchLink>; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.; Medical Genetics Department, Koç University School of Medicine, 34450 Istanbul, Turkey.; Reproductive Biology Laboratory, Amsterdam UMC Netherlands, 1105 AZ Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065; casanova@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Descartes University, 75006 Paris, France.; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, 75015 Paris, France.; HHMI, The Rockefeller University, New York, NY 10065.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227505876%22">Proceedings of the National Academy of Sciences of the United States of America</searchLink> [Proc Natl Acad Sci U S A] 2019 Sep 17; Vol. 116 (38), pp. 19055-19063. <i>Date of Electronic Publication: </i>2019 Sep 04.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; 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="%22National+Academy+of+Sciences%22">National Academy of Sciences </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7505876 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1091-6490 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200278424%22">00278424 </searchLink><i>NLM ISO Abbreviation: </i>Proc Natl Acad Sci U S A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31484767
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1073/pnas.1906184116
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 19055
    Titles:
      – TitleFull: Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Drutman SB
      – PersonEntity:
          Name:
            NameFull: Haerynck F
      – PersonEntity:
          Name:
            NameFull: Zhong FL
      – PersonEntity:
          Name:
            NameFull: Hum D
      – PersonEntity:
          Name:
            NameFull: Hernandez NJ
      – PersonEntity:
          Name:
            NameFull: Belkaya S
      – PersonEntity:
          Name:
            NameFull: Rapaport F
      – PersonEntity:
          Name:
            NameFull: de Jong SJ
      – PersonEntity:
          Name:
            NameFull: Creytens D
      – PersonEntity:
          Name:
            NameFull: Tavernier SJ
      – PersonEntity:
          Name:
            NameFull: Bonte K
      – PersonEntity:
          Name:
            NameFull: De Schepper S
      – PersonEntity:
          Name:
            NameFull: van der Werff Ten Bosch J
      – PersonEntity:
          Name:
            NameFull: Lorenzo-Diaz L
      – PersonEntity:
          Name:
            NameFull: Wullaert A
      – PersonEntity:
          Name:
            NameFull: Bossuyt X
      – PersonEntity:
          Name:
            NameFull: Orth G
      – PersonEntity:
          Name:
            NameFull: Bonagura VR
      – PersonEntity:
          Name:
            NameFull: Béziat V
      – PersonEntity:
          Name:
            NameFull: Abel L
      – PersonEntity:
          Name:
            NameFull: Jouanguy E
      – PersonEntity:
          Name:
            NameFull: Reversade B
      – PersonEntity:
          Name:
            NameFull: Casanova JL
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 17
              M: 09
              Text: 2019 Sep 17
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1091-6490
          Numbering:
            – Type: volume
              Value: 116
            – Type: issue
              Value: 38
          Titles:
            – TitleFull: Proceedings of the National Academy of Sciences of the United States of America
              Type: main
ResultId 1