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@ARTICLE{Hang:279369,
      author       = {Hang, Abraham and Shao, Andy and Shea, Michael and Roux,
                      Michel J and Imai-Leonard, Denise M and Adams, David J and
                      Amano, Takanori and Amarie, Oana V and Berberovic, Zorana
                      and Bour, Raphaël and Bower, Lynette and Leonard, Brian C
                      and Brown, Steve D and Cho, Soo Young and Clementson-Mobbs,
                      Sharon and D'Souza, Abigail J and Dickinson, Mary and
                      Eskandarian, Mohammad and Flenniken, Ann M and Fuchs, Helmut
                      and Gailus-Durner, Valerie and Heaney, Jason and Hérault,
                      Yann and Hrabe de Angelis, Martin and Hsu, Chih-Wei and Jin,
                      Shundan and Joynson, Russell and Kang, Yeon Kyung and Kim,
                      Haerim and Masuya, Hiroshi and Nam, Ki-Hoan and Noh, Hyuna
                      and Nutter, Lauryl M J and Palkova, Marcela and Prochazka,
                      Jan and Raishbrook, Miles Joseph and Riet, Fabrice and
                      Salazar, Jason and Seavitt, John Richard and Sedlacek,
                      Radislav and Selloum, Mohammed and Seo, Kyoung Yul and
                      Seong, Je Kyung and Shin, Hae-Sol and Shiroishi, Toshihiko
                      and Sorg, Tania and Stewart, Michelle and Tamura, Masaru and
                      Tolentino, Heather and Udensi, Uchechukwu and Wells, Sara
                      and Wurst, Wolfgang and Yoshiki, Atsushi and Meziane, Hamid
                      and Yiu, Glenn C and Sieving, Paul A and Lanoue, Louise and
                      Lloyd, K C Kent and McKerlie, Colin and Moshiri, Ala},
      collaboration = {Consortium, International Mouse Phenotyping},
      title        = {{O}cular {P}henotyping of {K}nockout {M}ice {I}dentifies
                      {G}enes {A}ssociated {W}ith {L}ate {A}dult {R}etinal
                      {P}henotypes.},
      journal      = {Investigative ophthalmology $\&$ visual science},
      volume       = {66},
      number       = {6},
      issn         = {0146-0404},
      address      = {Rockville, Md.},
      publisher    = {ARVO},
      reportid     = {DZNE-2025-00746},
      pages        = {64},
      year         = {2025},
      abstract     = {Analyze phenotypic data from knockout mice with late-adult
                      retinal pathologic phenotypes to identify genes associated
                      with development of adult-onset retinal diseases.The
                      International Mouse Phenotyping Consortium (IMPC) database
                      was queried for genes associated with abnormal retinal
                      phenotypes in the late-adult knockout mouse pipeline (49-80
                      weeks postnatal age). We identified human orthologs and
                      performed protein-protein analysis and biological pathways
                      analysis with known inherited retinal disease (IRD) and
                      age-related macular degeneration (AMD) genes using Search
                      Tool for the Retrieval of Interacting Genes/Proteins
                      (STRING), PLatform for Analysis of single cell Eye in a Disk
                      (PLAE), Protein Analysis Through Evolutionary Relationships
                      (PANTHER), and Kyoto Encyclopedia of Genes and Genomes
                      (KEGG).Screening of 587 late-adult mouse genes yielded 12
                      with abnormal retinal phenotypes, which corresponded to 20
                      human orthologs. Three of the 12 mouse genes and two of the
                      20 human orthologs were previously implicated in retinal
                      pathology or physiology in a literature review. Although all
                      of the genes demonstrated retinal pathology when deleted
                      from the mouse genome, most do not have established roles in
                      human retinal disease. Furthermore, human protein-protein
                      analysis and biological pathway analysis yielded only a few
                      relationships between the candidate gene list and that of
                      known IRD and AMD genes, suggesting they may represent novel
                      retinal functions.We identified 12 mouse genes with
                      significant late-adult abnormal retinal pathology, eight of
                      which have not been previously implicated in either mouse or
                      human retinal physiology or pathology. These serve as novel
                      retinal disease gene candidates for late-onset retinal
                      disease.},
      keywords     = {Animals / Mice, Knockout / Mice / Phenotype / Disease
                      Models, Animal / Humans / Retina: pathology / Retina:
                      metabolism / Macular Degeneration: genetics / Eye Proteins:
                      genetics / Eye Proteins (NLM Chemicals)},
      cin          = {AG Wurst},
      ddc          = {610},
      cid          = {I:(DE-2719)1140001},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40548636},
      pmc          = {pmc:PMC12186831},
      doi          = {10.1167/iovs.66.6.64},
      url          = {https://pub.dzne.de/record/279369},
}