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2025 0

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14 results

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Page 1
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
Teramae A, Kobayashi Y, Kunimoto H, Nakajima K, Suzuki T, Tsuruta D, Fukai K. Teramae A, et al. J Invest Dermatol. 2019 May;139(5):1143-1149. doi: 10.1016/j.jid.2018.10.033. Epub 2018 Nov 14. J Invest Dermatol. 2019. PMID: 30447237 Free article. Review.
Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the reduction or complete lack of melanin pigment in the skin, hair, and eyes. ...These results provide the basis for a possible chemical chaperone therapy to recover tyrosinase activit
Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the reduction or complete lack of melanin pig
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 …
[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Wang D, Huang J, Zhang K, Lyu Y, Gao M, Ma J, Wan Y, Gai Z, Liu Y. Wang D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1392-1396. doi: 10.3760/cma.j.cn511374-20211101-00868. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37906148 Review. Chinese.
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5). METHODS: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was sel …
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS. Oetting WS. Pigment Cell Res. 2000 Oct;13(5):320-5. doi: 10.1034/j.1600-0749.2000.130503.x. Pigment Cell Res. 2000. PMID: 11041207 Review.
Much of this work includes the analysis of coat color mutations of the mouse and albinism in man. Our understanding has been greatly enhanced in the last 10 years, as the molecular pathogenesis of albinism has been better understood. Different mutations of the tyros …
Much of this work includes the analysis of coat color mutations of the mouse and albinism in man. Our understanding has been greatly …
[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 ( …
Genotype-phenotype associations and human eye color.
White D, Rabago-Smith M. White D, et al. J Hum Genet. 2011 Jan;56(1):5-7. doi: 10.1038/jhg.2010.126. Epub 2010 Oct 14. J Hum Genet. 2011. PMID: 20944644 Review.
Although there are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2 …
Although there are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect …
Amelanotic melanoma in a patient with oculocutaneous albinism.
Ruiz-Sanchez D, Garabito Solovera EL, Valtueña J, Aguado Garcia A, Garayar Cantero M, Martinez Garcia G, Manchado Lopez P. Ruiz-Sanchez D, et al. Dermatol Online J. 2020 May 15;26(5):13030/qt2gv5w93x. Dermatol Online J. 2020. PMID: 32621707 Free article. Review.
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin. ...Amelanotic melanomas are one of the two most difficult to diagnose s
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized
Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.
Visser M, Kayser M, Grosveld F, Palstra RJ. Visser M, et al. Pigment Cell Melanoma Res. 2014 Mar;27(2):169-77. doi: 10.1111/pcmr.12210. Pigment Cell Melanoma Res. 2014. PMID: 24387780 Review.
Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The OCA2 protein plays a central role in melanosome biogenesis, and it is a strong determinant of the eumelanin content in melanocytes. ...Rece …
Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The …
Genetics of fibrosing lung diseases.
Grutters JC, du Bois RM. Grutters JC, et al. Eur Respir J. 2005 May;25(5):915-27. doi: 10.1183/09031936.05.00133404. Eur Respir J. 2005. PMID: 15863652 Free article. Review.
Genetic studies in familial lung fibrosis have demonstrated an association with surfactant protein C genes: two mutations have been found resulting in protein misfolding and causing type-II epithelial cell injury. Remarkably, different histological patterns were observed i …
Genetic studies in familial lung fibrosis have demonstrated an association with surfactant protein C genes: two mutations have been found re …
14 results