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Modeling ZNF408-Ass...
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature
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- Karjosukarso, Dyah W. (författare)
- Radboud Univ Nijmegen, Netherlands
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- Ali, Zaheer (författare)
- Linköpings universitet,Avdelningen för kardiovaskulär medicin,Medicinska fakulteten
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- Peters, Theo A. (författare)
- Radboud Univ Nijmegen, Netherlands
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- Zhang, Jia Qi Cheng (författare)
- Radboud Univ Nijmegen, Netherlands
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- Hoogendoorn, Anita D. M. (författare)
- Radboud Univ Nijmegen, Netherlands
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- Garanto, Alejandro (författare)
- Radboud Univ Nijmegen, Netherlands
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- van Wijk, Erwin (författare)
- Radboud Univ Nijmegen, Netherlands
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- Jensen, Lasse (författare)
- Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Klinisk farmakologi
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- Collin, Rob W. J. (författare)
- Radboud Univ Nijmegen, Netherlands
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(creator_code:org_t)
- ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 2020
- 2020
- Engelska.
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Ingår i: Investigative Ophthalmology and Visual Science. - : ASSOC RESEARCH VISION OPHTHALMOLOGY INC. - 0146-0404 .- 1552-5783. ; 61:2
- Relaterad länk:
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https://liu.diva-por... (primary) (Raw object)
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- PURPOSE. Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disease in which the retinal vasculature is affected. Patients with FEVR typically lack or have abnormal vasculature in the peripheral retina, the outcome of which can range from mild visual impairment to complete blindness. A missense mutation (p.His455Tyr) in ZNF408 was identified in an autosomal dominant FEVR family. Little, however, is known about the molecular role of ZNF408 and how its defect leads to the clinical features of FEVR. METHODS. Using CRISPR/Cas9 technology, two homozygous mutant zebrafish models with truncated znf408 were generated, as well as one heterozygous and one homozygous missense znf408 model in which the human p.His455Tyr mutation is mimicked. RESULTS. Intriguingly, all three znf408-mutant zebrafish strains demonstrated progressive retinal vascular pathology, initially characterized by a deficient hyaloid vessel development at 5 days postfertilization (dpf) leading to vascular insufficiency in the retina. The generation of stable mutant lines allowed long-term follow up studies, which showed ectopic retinal vascular hyper-sprouting at 90 dpf and extensive vascular leakage at 180 dpf. CONCLUSIONS. Together, our data demonstrate an important role for znf408 in the development and maintenance of the vascular system within the retina.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- CRISPR/Cas9; FEVR; retinal vasculature; zebrafish; znf408
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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