View in EDS

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.

Saved in:
Bibliographic Details
Title: Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Authors: Johnson MB; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Russ-Silsby J; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Blair PA; Department of Immunobiology, King's College London, London, UK., Govier M; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Bonfield G; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Domingo-Vila C; Department of Immunobiology, King's College London, London, UK., Wakeling MN; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Oram RA; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Flanagan SE; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Tree TIM; Department of Immunobiology, King's College London, London, UK., Patel KA; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Hattersley AT; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., De Franco E; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: e.de-franco@exeter.ac.uk.
Corporate Authors: EXE-T1D consortium; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., ATAC clinical consortium
Source: American journal of human genetics [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 877-887. Date of Electronic Publication: 2026 Mar 20.
Publication Type: Journal Article
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: 41864208
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Johnson+MB%22">Johnson MB</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Russ-Silsby+J%22">Russ-Silsby J</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Blair+PA%22">Blair PA</searchLink>; Department of Immunobiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Govier+M%22">Govier M</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Bonfield+G%22">Bonfield G</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Domingo-Vila+C%22">Domingo-Vila C</searchLink>; Department of Immunobiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Wakeling+MN%22">Wakeling MN</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Oram+RA%22">Oram RA</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Flanagan+SE%22">Flanagan SE</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Tree+TIM%22">Tree TIM</searchLink>; Department of Immunobiology, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Patel+KA%22">Patel KA</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Hattersley+AT%22">Hattersley AT</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22De+Franco+E%22">De Franco E</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: e.de-franco@exeter.ac.uk.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22EXE-T1D+consortium%22">EXE-T1D consortium</searchLink>; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.<br /><searchLink fieldCode="CA" term="%22ATAC+clinical+consortium%22">ATAC clinical consortium</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 877-887. <i>Date of Electronic Publication: </i>2026 Mar 20.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– 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=41864208
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2026.02.017
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 877
    Titles:
      – TitleFull: Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Johnson MB
      – PersonEntity:
          Name:
            NameFull: Russ-Silsby J
      – PersonEntity:
          Name:
            NameFull: Blair PA
      – PersonEntity:
          Name:
            NameFull: Govier M
      – PersonEntity:
          Name:
            NameFull: Bonfield G
      – PersonEntity:
          Name:
            NameFull: Domingo-Vila C
      – PersonEntity:
          Name:
            NameFull: Wakeling MN
      – PersonEntity:
          Name:
            NameFull: Oram RA
      – PersonEntity:
          Name:
            NameFull: Flanagan SE
      – PersonEntity:
          Name:
            NameFull: Tree TIM
      – PersonEntity:
          Name:
            NameFull: Patel KA
      – PersonEntity:
          Name:
            NameFull: Hattersley AT
      – PersonEntity:
          Name:
            NameFull: De Franco E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 04
              Text: 2026 Apr 02
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 113
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1