A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling
This study expands the mode of inheritance in OCA and provides crucial functional validation that is important for genetic counseling.
Authors
- Dongheon Surl (ORCID: https://orcid.org/0009-0009-8964-6193)
- Mervyn G. Thomas (ORCID: https://orcid.org/0000-0002-4630-1234)
- Bae Young-Ki
- Cheol-Hee Kim
- Dilan Wellalage Don (ORCID: https://orcid.org/0000-0003-3372-0349)
- Jiwon Park (ORCID: https://orcid.org/0000-0002-2258-310X)
- Xiangyun Wei
- Jinu Han
- Jong-Su Park
- Tae-Ik Choi
- Tae Young Kim
Institutions
- University of Pittsburgh (US)
- Yonsei University (KR)
- Chungnam National University (KR)
- Severance Hospital (KR)
- Ulverscroft (United Kingdom) (GB)
- National Cancer Center (KR)
- Gangnam Severance Hospital (KR)
Publication Details
- Journal
- Translational Vision Science & Technology
- Published
- 2026-02-18
- DOI
- https://doi.org/10.1167/tvst.15.2.22
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00