View in EDS

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Saved in:
Bibliographic Details
Title: Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Authors: Li CY; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chen LW; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Tsai MC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Lin PX; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chang YM; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hwu WL; Precision Medical Center, China Medical University Hospital, Taichung City, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Lin JL; Department of Pediatrics, Chang Gung Memorial Hospital, Linkou, Taiwan., Chen HA; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Su PH; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, Taiwan., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Wang YC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Huang YT; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lin SH; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Huang LLH; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Biotechnology and Bioindustry Sciences, National Cheng Kung University, Tainan, Taiwan., Chiang PM; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Shih MH; Department of Ophthalmology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Chen PC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: pengchic@mail.ncku.edu.tw.
Source: EBioMedicine [EBioMedicine] 2024 Dec; Vol. 110, pp. 105476. Date of Electronic Publication: 2024 Nov 29.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39615461
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Li+CY%22">Li CY</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+LW%22">Chen LW</searchLink>; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tsai+MC%22">Tsai MC</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chou+YY%22">Chou YY</searchLink>; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+PX%22">Lin PX</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chang+YM%22">Chang YM</searchLink>; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hwu+WL%22">Hwu WL</searchLink>; Precision Medical Center, China Medical University Hospital, Taichung City, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chien+YH%22">Chien YH</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+JL%22">Lin JL</searchLink>; Department of Pediatrics, Chang Gung Memorial Hospital, Linkou, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+HA%22">Chen HA</searchLink>; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lee+NC%22">Lee NC</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Su+PH%22">Su PH</searchLink>; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsieh+TC%22">Hsieh TC</searchLink>; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Klinkhammer+H%22">Klinkhammer H</searchLink>; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Wang+YC%22">Wang YC</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+YT%22">Huang YT</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Krawitz+PM%22">Krawitz PM</searchLink>; Institute for Genomic Statistics and Bioinformatics, Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Lin+SH%22">Lin SH</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+LLH%22">Huang LLH</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Biotechnology and Bioindustry Sciences, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chiang+PM%22">Chiang PM</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Shih+MH%22">Shih MH</searchLink>; Department of Ophthalmology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PC%22">Chen PC</searchLink>; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: pengchic@mail.ncku.edu.tw.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2024 Dec; Vol. 110, pp. 105476. <i>Date of Electronic Publication: </i>2024 Nov 29.
– 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="%22Elsevier+B%2EV%22">Elsevier B.V </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101647039 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2352-3964 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223523964%22">23523964 </searchLink><i>NLM ISO Abbreviation: </i>EBioMedicine <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39615461
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ebiom.2024.105476
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 105476
    Titles:
      – TitleFull: Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Li CY
      – PersonEntity:
          Name:
            NameFull: Chen LW
      – PersonEntity:
          Name:
            NameFull: Tsai MC
      – PersonEntity:
          Name:
            NameFull: Chou YY
      – PersonEntity:
          Name:
            NameFull: Lin PX
      – PersonEntity:
          Name:
            NameFull: Chang YM
      – PersonEntity:
          Name:
            NameFull: Hwu WL
      – PersonEntity:
          Name:
            NameFull: Chien YH
      – PersonEntity:
          Name:
            NameFull: Lin JL
      – PersonEntity:
          Name:
            NameFull: Chen HA
      – PersonEntity:
          Name:
            NameFull: Lee NC
      – PersonEntity:
          Name:
            NameFull: Su PH
      – PersonEntity:
          Name:
            NameFull: Hsieh TC
      – PersonEntity:
          Name:
            NameFull: Klinkhammer H
      – PersonEntity:
          Name:
            NameFull: Wang YC
      – PersonEntity:
          Name:
            NameFull: Huang YT
      – PersonEntity:
          Name:
            NameFull: Krawitz PM
      – PersonEntity:
          Name:
            NameFull: Lin SH
      – PersonEntity:
          Name:
            NameFull: Huang LLH
      – PersonEntity:
          Name:
            NameFull: Chiang PM
      – PersonEntity:
          Name:
            NameFull: Shih MH
      – PersonEntity:
          Name:
            NameFull: Chen PC
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 12
              Text: 2024 Dec
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2352-3964
          Numbering:
            – Type: volume
              Value: 110
          Titles:
            – TitleFull: EBioMedicine
              Type: main
ResultId 1