| 1. |
Tripathi RK, Strunk KM, Giebel LB, et al. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet, 1992, 43(5): 865-871.
|
| 2. |
Wei A, Wang Y, Long Y, et al. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol, 2010, 130(3): 716-724.
|
| 3. |
Lin YY, Wei AH, He X, et al. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Eur J Dermatol, 2014, 24(2): 168-173.
|
| 4. |
Wang Y, Wang Z, Chen M, et al. Mutational analysis of the TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. PLoS One, 2015, 10(4): e0125651.
|
| 5. |
Lu Q, Yuan L, Xu H, et al. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. Mol Med Rep, 2017, 15(3): 1426-1430.
|
| 6. |
Shahzad M, Yousaf S, Waryah YM, et al. University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Molecular outcomes, clinical consequences, and genetic diagnosis of oculocutaneous albinism in Pakistani population. Sci Rep, 2017, 7: 44185.
|
| 7. |
Tomita Y, Takeda A, Okinaga S, et al. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun, 1989, 164(3): 990-996.
|
| 8. |
Simeonov DR, Wang X, Wang C, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat, 2013, 34(6): 827-835.
|
| 9. |
Wang X, Zhu Y, Shen N, et al. Mutation analysis of a Chinese family with oculocutaneous albinism. Oncotarget, 2016, 7(51): 84981-84988.
|
| 10. |
Nomura T, Sandilands A, Akiyama M, et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol, 2007, 119(2): 434-440.
|
| 11. |
Meng L, Wang L, Tang H, et al. Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population. PLoS One, 2014, 9(5): e98235.
|
| 12. |
Wei A, Zhang T, Yuan Y, et al. Spectrum analysis of albinism genes in a large cohort of Chinese index patients. J Invest Dermatol, 2022, 142(6): 1752-1755.
|
| 13. |
Thomas MG, Zippin J, Brooks BP. Oculocutaneous albinism and ocular albinism overview//Adam MP, Feldman J, Mirzaa GM, et al. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle, 2023.
|
| 14. |
Federico JR, Krishnamurthy K. Albinism//StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2023.
|
| 15. |
中華醫學會醫學遺傳學分會遺傳病臨床實踐指南撰寫組. 白化病的臨床實踐指南. 中華醫學遺傳學雜志, 2020, 37(3): 252-257.
|
| 16. |
Shakil M, Harlalka GV, Ali S, et al. Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (Lond), 2019, 33(8): 1339-1346.
|
| 17. |
Bakker R, Wagstaff EL, Kruijt CC, et al. The retinal pigmentation pathway in human albinism: not so black and white. Prog Retin Eye Res, 2022, 91: 101091.
|
| 18. |
Liu S, Kuht HJ, Moon EH, et al. Current and emerging treatments for albinism. Surv Ophthalmol, 2021, 66(2): 362-377.
|
| 19. |
Thyssen JP, Godoy-Gijon E, Elias PM. Ichthyosis vulgaris: the filaggrin mutation disease. Br J Dermatol, 2013, 168(6): 1155-1166.
|
| 20. |
Hoober JK, Eggink LL. The discovery and function of filaggrin. Int J Mol Sci, 2022, 23(3): 1455.
|
| 21. |
Zhong WL, Wu X, Yu B, et al. Filaggrin gene mutation c.3321delA is associated with dry phenotypes of atopic dermatitis in the Chinese Han population. Chin Med J (Engl), 2016, 129(12): 1498-1500.
|
| 22. |
Jaffar H, Shakir Z, Kumar G, et al. Ichthyosis vulgaris: an updated review. Skin Health Dis, 2022, 3(1): e187.
|
| 23. |
Moosbrugger-Martinz V, Leprince C, Méchin MC, et al. Revisiting the roles of filaggrin in atopic dermatitis. Int J Mol Sci, 2022, 23(10): 5318.
|
| 24. |
Langan SM, Irvine AD, Weidinger S. Atopic dermatitis. Lancet, 2020, 396(10247): 345-360.
|
| 25. |
Sethuraman G, Marwaha RK, Challa A, et al. Vitamin D: a new promising therapy for congenital ichthyosis. Pediatrics, 2016, 137(1): e20151313.
|
| 26. |
Chen H, Ho JC, Sandilands A, et al. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol, 2008, 128(7): 1669-1675.
|
| 27. |
Alakloby OM, Almuqarrab F, Zschocke J, et al. Filaggrin gene variants among Saudi patients with ichthyosis vulgaris. BMC Med Genomics, 2023, 16(1): 256.
|
| 28. |
Leman G, Moosbrugger-Martinz V, Blunder S, et al. 3D-organotypic cultures to unravel molecular and cellular abnormalities in atopic dermatitis and ichthyosis vulgaris. Cells, 2019, 8(5): 489.
|
| 29. |
蔣超月, 唐少華, 李煥錚, 等. 全基因組測序對一例無痛無汗癥伴白化病患兒的基因變異分析. 中華醫學遺傳學雜志, 2021, 38(5): 472-476.
|
| 30. |
Aquaron R, Lasseaux E, Kelekele J, et al. Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo. Eur J Med Genet, 2022, 65(10): 104594.
|
| 31. |
Dhangar S, Panchal P, Ghatanatti J, et al. Novel deletion of exon 3 in TYR gene causing oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations. BMC Med Genomics, 2022, 15(1): 2.
|
| 32. |
Lee W, Schuerch K, Xie Y, et al. Simultaneous expression of ABCA4 and GPR143 mutations: a complex phenotypic manifestation. Invest Ophthalmol Vis Sci, 2016, 57(7): 3409-3415.
|
