ArticlePloS one2014
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry.Scientific reports · 2026Article
- After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.Molecular genetics & genomic medicine · 2024Article
- Targeted mutagenesis in mice via an engineered AsCas12f1 system.Cellular and molecular life sciences : CMLS · 2024Article
- Article
- Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.American journal of human genetics · 2023Article
- Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.Life (Basel, Switzerland) · 2022Article
- Review
- NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.BMC genomics · 2022Article
- Article
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- Tracing the Evolution of Human Gene Regulation and Its Association with Shifts in Environment.Genome biology and evolution · 2021Article
- Article
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
- Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.Current medical science · 2018Article
- Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.Journal of analytical & pharmaceutical research · 2018Article
- Delineating the genetic heterogeneity of OCA in Hungarian patients.European journal of medical research · 2017Article
- Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.BMC medical genetics · 2017Article
- Mutation analysis of a Chinese family with oculocutaneous albinism.Oncotarget · 2016Article
- Extract of Ganoderma formosanum Mycelium as a Highly Potent Tyrosinase Inhibitor.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.
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