View in EDS

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.

Saved in:
Bibliographic Details
Title: Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
Authors: Khabou B; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia. Boudour.khabou.bio@gmail.com., Othman H; Department of Genetics, Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Laboratory of cytogenetics, molecular genetics and reproductive biology (LR03SP02), Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, 9 Jubilee Road, Parktown, Johannesburg, 2193, South Africa., Guirat M; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Biotechnology Center of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Chabchoub I; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Kmiha S; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Mahjoub B; Pediatric Department, Tahar Sfar Hospital, Mahdia, Tunisia., Abdelhadi R; Centre of Biotechnology of Sfax (Tunisia), Microorganisms and Biomolecule Laboratory, and Molecular and Cellular Screening Process Laboratory, Sfax, Tunisia.; Ksentini Private Laboratory of Cytogenetics of Sfax, Sfax, Tunisia.; Ribosite Biotech Company for Research and Development in Biotechnhology, Sfax, Tunisia., Ben Mahmoud A; Neurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Hamad Bin Khalifa University (HBKU), Doha, Qatar., Kallel R; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia., Sellami Boudawara T; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia., Kammoun T; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Fakhfakh F; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia., Hadj Kacem H; Department of Applied Biology, College of sciences, University of Sharjah, Sharjah, United Arab Emirates., Kammoun H; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.
Source: Journal of human genetics [J Hum Genet] 2025 Jul; Vol. 70 (7), pp. 331-339. Date of Electronic Publication: 2025 Apr 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40251428
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Khabou+B%22">Khabou B</searchLink>; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia. Boudour.khabou.bio@gmail.com.<br /><searchLink fieldCode="AU" term="%22Othman+H%22">Othman H</searchLink>; Department of Genetics, Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Laboratory of cytogenetics, molecular genetics and reproductive biology (LR03SP02), Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, 9 Jubilee Road, Parktown, Johannesburg, 2193, South Africa.<br /><searchLink fieldCode="AU" term="%22Guirat+M%22">Guirat M</searchLink>; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Biotechnology Center of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Chabchoub+I%22">Chabchoub I</searchLink>; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kmiha+S%22">Kmiha S</searchLink>; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Mahjoub+B%22">Mahjoub B</searchLink>; Pediatric Department, Tahar Sfar Hospital, Mahdia, Tunisia.<br /><searchLink fieldCode="AU" term="%22Abdelhadi+R%22">Abdelhadi R</searchLink>; Centre of Biotechnology of Sfax (Tunisia), Microorganisms and Biomolecule Laboratory, and Molecular and Cellular Screening Process Laboratory, Sfax, Tunisia.; Ksentini Private Laboratory of Cytogenetics of Sfax, Sfax, Tunisia.; Ribosite Biotech Company for Research and Development in Biotechnhology, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Ben+Mahmoud+A%22">Ben Mahmoud A</searchLink>; Neurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Hamad Bin Khalifa University (HBKU), Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Kallel+R%22">Kallel R</searchLink>; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Sellami+Boudawara+T%22">Sellami Boudawara T</searchLink>; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kammoun+T%22">Kammoun T</searchLink>; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Fakhfakh+F%22">Fakhfakh F</searchLink>; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Hadj+Kacem+H%22">Hadj Kacem H</searchLink>; Department of Applied Biology, College of sciences, University of Sharjah, Sharjah, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Kammoun+H%22">Kammoun H</searchLink>; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2025 Jul; Vol. 70 (7), pp. 331-339. <i>Date of Electronic Publication: </i>2025 Apr 18.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Case Reports
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40251428
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s10038-025-01338-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 331
    Titles:
      – TitleFull: Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Khabou B
      – PersonEntity:
          Name:
            NameFull: Othman H
      – PersonEntity:
          Name:
            NameFull: Guirat M
      – PersonEntity:
          Name:
            NameFull: Chabchoub I
      – PersonEntity:
          Name:
            NameFull: Kmiha S
      – PersonEntity:
          Name:
            NameFull: Mahjoub B
      – PersonEntity:
          Name:
            NameFull: Abdelhadi R
      – PersonEntity:
          Name:
            NameFull: Ben Mahmoud A
      – PersonEntity:
          Name:
            NameFull: Kallel R
      – PersonEntity:
          Name:
            NameFull: Sellami Boudawara T
      – PersonEntity:
          Name:
            NameFull: Kammoun T
      – PersonEntity:
          Name:
            NameFull: Fakhfakh F
      – PersonEntity:
          Name:
            NameFull: Hadj Kacem H
      – PersonEntity:
          Name:
            NameFull: Kammoun H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2025 Jul
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1435-232X
          Numbering:
            – Type: volume
              Value: 70
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Journal of human genetics
              Type: main
ResultId 1