View in EDS HTML Full Text PDF Full Text

Creation of de novo cryptic splicing for ALS and FTD precision medicine.

Saved in:
Bibliographic Details
Title: Creation of de novo cryptic splicing for ALS and FTD precision medicine.
Authors: Wilkins OG; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK., Chien MZYJ; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK., Wlaschin JJ; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD 21218, USA., Barattucci S; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Harley P; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Mattedi F; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Mehta PR; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Pisliakova M; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK., Ryadnov E; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Keuss MJ; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Thompson D; Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire OX11 0RD, UK., Digby H; The Francis Crick Institute, London NW1 1AT, UK.; UK Dementia Research Institute at King's College London, London SE5 9RX, UK., Knez L; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK., Simkin RL; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Diaz JA; EGA-Institute for Women's Health, University College London, London WC1E 6HX, UK., Zanovello M; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK., Brown AL; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Darbey A; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Karda R; EGA-Institute for Women's Health, University College London, London WC1E 6HX, UK., Fisher EMC; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Cunningham TJ; Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire OX11 0RD, UK.; MRC Prion Unit at UCL and UCL Institute of Prion Diseases, London W1W 7FF, UK., Le Pichon CE; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Ule J; The Francis Crick Institute, London NW1 1AT, UK.; UK Dementia Research Institute at King's College London, London SE5 9RX, UK., Fratta P; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.
Source: Science (New York, N.Y.) [Science] 2024 Oct 04; Vol. 386 (6717), pp. 61-69. Date of Electronic Publication: 2024 Oct 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39361759
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Creation of de novo cryptic splicing for ALS and FTD precision medicine.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Wilkins+OG%22">Wilkins OG</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Chien+MZYJ%22">Chien MZYJ</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Wlaschin+JJ%22">Wlaschin JJ</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD 21218, USA.<br /><searchLink fieldCode="AU" term="%22Barattucci+S%22">Barattucci S</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Harley+P%22">Harley P</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Mattedi+F%22">Mattedi F</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Mehta+PR%22">Mehta PR</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Pisliakova+M%22">Pisliakova M</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Ryadnov+E%22">Ryadnov E</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Keuss+MJ%22">Keuss MJ</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Thompson+D%22">Thompson D</searchLink>; Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire OX11 0RD, UK.<br /><searchLink fieldCode="AU" term="%22Digby+H%22">Digby H</searchLink>; The Francis Crick Institute, London NW1 1AT, UK.; UK Dementia Research Institute at King's College London, London SE5 9RX, UK.<br /><searchLink fieldCode="AU" term="%22Knez+L%22">Knez L</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Simkin+RL%22">Simkin RL</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Diaz+JA%22">Diaz JA</searchLink>; EGA-Institute for Women's Health, University College London, London WC1E 6HX, UK.<br /><searchLink fieldCode="AU" term="%22Zanovello+M%22">Zanovello M</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.<br /><searchLink fieldCode="AU" term="%22Brown+AL%22">Brown AL</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Darbey+A%22">Darbey A</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Karda+R%22">Karda R</searchLink>; EGA-Institute for Women's Health, University College London, London WC1E 6HX, UK.<br /><searchLink fieldCode="AU" term="%22Fisher+EMC%22">Fisher EMC</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Cunningham+TJ%22">Cunningham TJ</searchLink>; Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire OX11 0RD, UK.; MRC Prion Unit at UCL and UCL Institute of Prion Diseases, London W1W 7FF, UK.<br /><searchLink fieldCode="AU" term="%22Le+Pichon+CE%22">Le Pichon CE</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Ule+J%22">Ule J</searchLink>; The Francis Crick Institute, London NW1 1AT, UK.; UK Dementia Research Institute at King's College London, London SE5 9RX, UK.<br /><searchLink fieldCode="AU" term="%22Fratta+P%22">Fratta P</searchLink>; UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; The Francis Crick Institute, London NW1 1AT, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220404511%22">Science (New York, N.Y.)</searchLink> [Science] 2024 Oct 04; Vol. 386 (6717), pp. 61-69. <i>Date of Electronic Publication: </i>2024 Oct 03.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Association+for+the+Advancement+of+Science%22">American Association for the Advancement of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0404511 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1095-9203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200368075%22">00368075 </searchLink><i>NLM ISO Abbreviation: </i>Science <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39361759
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1126/science.adk2539
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 61
    Titles:
      – TitleFull: Creation of de novo cryptic splicing for ALS and FTD precision medicine.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wilkins OG
      – PersonEntity:
          Name:
            NameFull: Chien MZYJ
      – PersonEntity:
          Name:
            NameFull: Wlaschin JJ
      – PersonEntity:
          Name:
            NameFull: Barattucci S
      – PersonEntity:
          Name:
            NameFull: Harley P
      – PersonEntity:
          Name:
            NameFull: Mattedi F
      – PersonEntity:
          Name:
            NameFull: Mehta PR
      – PersonEntity:
          Name:
            NameFull: Pisliakova M
      – PersonEntity:
          Name:
            NameFull: Ryadnov E
      – PersonEntity:
          Name:
            NameFull: Keuss MJ
      – PersonEntity:
          Name:
            NameFull: Thompson D
      – PersonEntity:
          Name:
            NameFull: Digby H
      – PersonEntity:
          Name:
            NameFull: Knez L
      – PersonEntity:
          Name:
            NameFull: Simkin RL
      – PersonEntity:
          Name:
            NameFull: Diaz JA
      – PersonEntity:
          Name:
            NameFull: Zanovello M
      – PersonEntity:
          Name:
            NameFull: Brown AL
      – PersonEntity:
          Name:
            NameFull: Darbey A
      – PersonEntity:
          Name:
            NameFull: Karda R
      – PersonEntity:
          Name:
            NameFull: Fisher EMC
      – PersonEntity:
          Name:
            NameFull: Cunningham TJ
      – PersonEntity:
          Name:
            NameFull: Le Pichon CE
      – PersonEntity:
          Name:
            NameFull: Ule J
      – PersonEntity:
          Name:
            NameFull: Fratta P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 10
              Text: 2024 Oct 04
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1095-9203
          Numbering:
            – Type: volume
              Value: 386
            – Type: issue
              Value: 6717
          Titles:
            – TitleFull: Science (New York, N.Y.)
              Type: main
ResultId 1