[1] |
Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P⁃cadherin[J]. Nat Genet, 2001,29(2):134⁃136. doi: 10.1038/ng716.
|
[2] |
王建波, 李祯林, 窦进法, 等. 常染色体隐性遗传性羊毛状发一家系基因突变检测[J]. 中华皮肤科杂志, 2021,54(2):145⁃147. doi: 10.35541/cjd.20190497.
|
[3] |
Ren Y, Liu J, Yao D, et al. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy[J]. Chin Med J (Engl), 2022,135(12):1503⁃1505. doi: 10.1097/CM9.0000000000002190.
|
[4] |
周娜, 史传奎, 张开慧, 等. 先天性少毛症一例致病基因突变研究[J]. 中华皮肤科杂志, 2017,50(11):820⁃824. doi: 10. 3760/cma.j.issn.0412⁃4030.2017.11.010.
|
[5] |
Ji S, Zhu Z, Sun X, et al. Functional hair follicle regeneration: an updated review[J]. Signal Transduct Target Ther, 2021,6(1):66. doi: 10.1038/s41392⁃020⁃00441⁃y.
|
[6] |
Shimomura Y, Wajid M, Shapiro L, et al. P⁃cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle[J]. Development, 2008,135(4):743⁃753. doi: 10.1242/dev.006718.
|
[7] |
Yusuf IH, Garrett AM, MacLaren RE, et al. Retinal cadherins and the retinal cadherinopathies: current concepts and future directions[J]. Prog Retin Eye Res, 2022,90:101038. doi: 10. 1016/j.preteyeres.2021.101038.
|
[8] |
Liu J, Xiao Q, Xiao J, et al. Wnt/β⁃catenin signalling: function, biological mechanisms, and therapeutic opportunities[J]. Signal Transduct Target Ther, 2022,7(1):3. doi: 10.1038/s41392⁃021⁃00762⁃6.
|
[9] |
Bejaoui M, Villareal MO, Isoda H. 3,4,5⁃Tri⁃o⁃caffeoylquinic acid promoted hair pigmentation through β⁃catenin and its target genes[J]. Front Cell Dev Biol, 2020,8:175. doi: 10.3389/fcell. 2020.00175.
|
[10] |
Indelman M, Hamel CP, Bergman R, et al. Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy[J]. J Invest Dermatol, 2003,121(5):1217⁃1220. doi: 10.1046/j.1523⁃1747.2003.12550_1.x.
|
[11] |
Pierce EA, Aleman TS, Jayasundera KT, et al. Gene editing for cep290⁃associated retinal degeneration[J]. N Engl J Med, 2024,390(21):1972⁃1984. doi: 10.1056/NEJMoa2309915.
|