Excessive glycine loop variations in the keratin 10 tail domain and implications for skin fragility
In KRT10, the insertions of limited c.1654_1683 repeats were prevalent and harmless in the general population. However, excessive insertions, exemplified by compound heterozygous mutations with insertions of two and four c.1654_1683 repeats, could be pathogenic. This study was novel in highlighting the pathogenicity of excessive glycine loop extension in the keratin tail domain, establishing a paradigm for other human keratins with glycine-rich tail domains.
Authors
- Yingjie Lin (ORCID: https://orcid.org/0000-0001-8492-6609)
- Fuxiang Bai (ORCID: https://orcid.org/0000-0001-7752-0803)
- Yi Wang (ORCID: https://orcid.org/0009-0009-5998-2751)
- Yuanji Dai
- Gongqi Yu (ORCID: https://orcid.org/0000-0001-7654-5232)
- Zihao Mi (ORCID: https://orcid.org/0000-0002-2912-6374)
- Jinghong Han
- Bingqing Li (ORCID: https://orcid.org/0000-0002-4322-3744)
- Furen Zhang (ORCID: https://orcid.org/0000-0002-3383-1973)
- Nan Cao
- Zhenzhen Wang (ORCID: https://orcid.org/0000-0001-5927-2471)
- Hong Liu
- Xu Sang (ORCID: https://orcid.org/0000-0002-0099-3511)
- Yueqian Yu (ORCID: https://orcid.org/0000-0002-6129-3500)
- Xiang‐Zheng Tu
Institutions
- Shandong University of Traditional Chinese Medicine (CN)
- Shandong Provincial Institute of Dermatology and Venereology (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1093/bjd/ljaf436
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00