View in EDS

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.

Saved in:
Bibliographic Details
Title: A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.
Authors: Nishina S; Division of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan. nishina-s@ncchd.go.jp., Kofuji S; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Matsubara K; Integrated Center for Women's Health, National Research Institute for Child Health and Development, Tokyo, Japan., Anzai H; Division of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan., Hirakata K; Hirakata Eye Clinic, Gunma, Japan., Hanazono Y; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Okamoto-Uchida Y; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Hirayama J; Faculty of Education, Bunkyo University, Saitama, Japan., Ito N; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan. fukami-m@ncchd.go.jp., Nishina H; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. nishina.dbio@mri.tmd.ac.jp.
Source: Scientific reports [Sci Rep] 2026 Apr 24; Vol. 16 (1). Date of Electronic Publication: 2026 Apr 24.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42031848
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Nishina+S%22">Nishina S</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan. nishina-s@ncchd.go.jp.<br /><searchLink fieldCode="AU" term="%22Kofuji+S%22">Kofuji S</searchLink>; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.<br /><searchLink fieldCode="AU" term="%22Matsubara+K%22">Matsubara K</searchLink>; Integrated Center for Women's Health, National Research Institute for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Anzai+H%22">Anzai H</searchLink>; Division of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan.<br /><searchLink fieldCode="AU" term="%22Hirakata+K%22">Hirakata K</searchLink>; Hirakata Eye Clinic, Gunma, Japan.<br /><searchLink fieldCode="AU" term="%22Hanazono+Y%22">Hanazono Y</searchLink>; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.<br /><searchLink fieldCode="AU" term="%22Okamoto-Uchida+Y%22">Okamoto-Uchida Y</searchLink>; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.<br /><searchLink fieldCode="AU" term="%22Hirayama+J%22">Hirayama J</searchLink>; Faculty of Education, Bunkyo University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Ito+N%22">Ito N</searchLink>; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.<br /><searchLink fieldCode="AU" term="%22Fukami+M%22">Fukami M</searchLink>; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura Setagaya-ku, Tokyo, 157-8535, Japan. fukami-m@ncchd.go.jp.<br /><searchLink fieldCode="AU" term="%22Nishina+H%22">Nishina H</searchLink>; Medical Research Laboratory, Institute of Integrated Research, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. nishina.dbio@mri.tmd.ac.jp.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2026 Apr 24; Vol. 16 (1). <i>Date of Electronic Publication: </i>2026 Apr 24.
– 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="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE; In Process
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42031848
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41598-026-48129-7
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Nishina S
      – PersonEntity:
          Name:
            NameFull: Kofuji S
      – PersonEntity:
          Name:
            NameFull: Matsubara K
      – PersonEntity:
          Name:
            NameFull: Anzai H
      – PersonEntity:
          Name:
            NameFull: Hirakata K
      – PersonEntity:
          Name:
            NameFull: Hanazono Y
      – PersonEntity:
          Name:
            NameFull: Okamoto-Uchida Y
      – PersonEntity:
          Name:
            NameFull: Hirayama J
      – PersonEntity:
          Name:
            NameFull: Ito N
      – PersonEntity:
          Name:
            NameFull: Fukami M
      – PersonEntity:
          Name:
            NameFull: Nishina H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 24
              M: 04
              Text: 2026 Apr 24
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2045-2322
          Numbering:
            – Type: volume
              Value: 16
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Scientific reports
              Type: main
ResultId 1