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[Oculocutaneous and ocular albinism].
Kubasch AS, Meurer M. Kubasch AS, et al. Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x. Hautarzt. 2017. PMID: 29018889 Review. German.
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to in …
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnos …
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.
Suzuki T, Tomita Y. Suzuki T, et al. J Dermatol Sci. 2008 Jul;51(1):1-9. doi: 10.1016/j.jdermsci.2007.12.008. Epub 2008 Apr 14. J Dermatol Sci. 2008. PMID: 18407468 Review.
Our survey of Japanese patients revealed that OCA1 was the most frequent type at 34%, while type 2 was present at less than 10%. OCA3 was absent. OCA4, which is a rare type worldwide, was the second most frequent type at 27%. Unexpectedly 10% of the pa …
Our survey of Japanese patients revealed that OCA1 was the most frequent type at 34%, while type 2 was present at less than 10 …
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
Ray K, Chaki M, Sengupta M. Ray K, et al. Prog Retin Eye Res. 2007 Jul;26(4):323-58. doi: 10.1016/j.preteyeres.2007.01.001. Epub 2007 Jan 17. Prog Retin Eye Res. 2007. PMID: 17355913 Review.
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance. ...Based on the structure of TYR gene, its sequence context and some exp …
Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a develo …
What's new with common genetic skin disorders?
Ma JE, Hand JL. Ma JE, et al. Minerva Pediatr. 2017 Aug;69(4):288-297. doi: 10.23736/S0026-4946.17.04925-8. Epub 2017 Apr 20. Minerva Pediatr. 2017. PMID: 28425690 Review.
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous …
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinis …
[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
Zhou QJ, Gong P, Jiao XR, Yang ZX. Zhou QJ, et al. Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18;55(1):181-185. doi: 10.19723/j.issn.1671-167X.2023.01.028. Beijing Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 36718709 Free PMC article. Review. Chinese.
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" …
To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome ( …
The etiology and molecular genetics of human pigmentation disorders.
Baxter LL, Pavan WJ. Baxter LL, et al. Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):379-92. doi: 10.1002/wdev.72. Epub 2012 May 17. Wiley Interdiscip Rev Dev Biol. 2013. PMID: 23799582 Free PMC article. Review.
Pigmentation, defined as the placement of pigment in skin, hair, and eyes for coloration, is distinctive because the location, amount, and type of pigmentation provides a visual manifestation of genetic heterogeneity in pathways regulating the pigment-producing cells, mela …
Pigmentation, defined as the placement of pigment in skin, hair, and eyes for coloration, is distinctive because the location, amount, and …
Novel insights from adaptor protein 3 complex deficiency.
Badolato R, Parolini S. Badolato R, et al. J Allergy Clin Immunol. 2007 Oct;120(4):735-41; quiz 742-3. doi: 10.1016/j.jaci.2007.08.039. J Allergy Clin Immunol. 2007. PMID: 17931556 Review.
Hermansky-Pudlak type 2 is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding disorders, recurrent infections, and moderate/severe neutropenia. ...Missorting of proteins (eg, tyrosinase) in melanocytes and platelets accounts fo …
Hermansky-Pudlak type 2 is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding disorders …
Mutations of the tyrosinase gene in oculocutaneous albinism.
Shibahara S. Shibahara S. Pigment Cell Res. 1992 Nov;5(5 Pt 2):279-83. doi: 10.1111/j.1600-0749.1992.tb00550.x. Pigment Cell Res. 1992. PMID: 1292010 Review.
Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. ...Thus, the mutations, detected in exon 4 or 5 amplified f …
Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a …
Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL. Bin Saeedan M, et al. Curr Probl Diagn Radiol. 2015 Jul-Aug;44(4):383-5. doi: 10.1067/j.cpradiol.2015.01.003. Epub 2015 Jan 30. Curr Probl Diagn Radiol. 2015. PMID: 25728501 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albin …