| Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. | Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Michaud V, Sequeira A, Mercier E, Lasseaux E, Plaisant C, Hadj-Rabia S, Whalen S, Bonneau D, Dieux-Coeslier A, Morice-Picard F, Coursimault J, Arveiler B, Javerzat S. | 10/16/2024 |
| Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism. | Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B, Zhang H, Kan Y, Gao X, Du Z, Liu Q., Free PMC Article | 01/31/2024 |
| Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population. | Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC, Canfield VA, Foster TC, Harbaugh TD, Early KA, Harter RL, Reid KP, Leong SL, Kawasawa Y, Liu D, Hawley JW, Cheng KC., Free PMC Article | 08/7/2023 |
| Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets. | Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
Bai M, Ke S, Yu H, Xu Y, Yu Y, Lu S, Wang C, Huang J, Ma Y, Dai W, Wu Y., Free PMC Article | 09/17/2022 |
| Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema. | Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Margaritte-Jeannin P, Budu-Aggrey A, Ege M, Madore AM, Linhard C, Mohamdi H, von Mutius E, Granell R, Demenais F, Laprise C, Bouzigon E, Dizier MH. | 07/16/2022 |
| Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. | Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, Mahmood S., Free PMC Article | 05/7/2022 |
| A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. | A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus SK, Lundh L, Watkins-Chow DE, Baxter LL, Pairo-Castineira E, Nisc Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR., Free PMC Article | 04/9/2022 |
| Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers. | Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.
Suarez P, Baumer K, Hall D., Free PMC Article | 02/26/2022 |
| Genetic Causes of Oculocutaneous Albinism in Pakistani Population. | Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, Rao AR, Abbasi AA, Shaikh RS, Waryah AM, Riazuddin S, Ahmed ZM., Free PMC Article | 08/14/2021 |
| [Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing]. | [Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].
Jiang C, Tang S, Li H, Xu X, Ding C. | 05/22/2021 |
| The distinctive geographic patterns of common pigmentation variants at the OCA2 gene. | The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Kidd KK, Pakstis AJ, Donnelly MP, Bulbul O, Cherni L, Gurkan C, Kang L, Li H, Yun L, Paschou P, Meiklejohn KA, Haigh E, Speed WC., Free PMC Article | 12/19/2020 |
| Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. | Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA., Free PMC Article | 10/31/2020 |
| The main type of ocular albinism is oculocutaneous albinism type II in China's Liuzhou region, where the most common variations of the P gene were c.803-3C>G and c.1327G>A (p.Val443Ile). | [Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].
Tan J, Pan L, Huang J, Li W, Li Z, Chang R, Li J, Yan T, Huang J, Yuan D, Cai R. | 12/14/2019 |
| Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient. | Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
Wang H, Wan Y, Yang Y, Li H, Mao L, Gao S, Xu J, Wang J., Free PMC Article | 12/7/2019 |
| The results of this study is the first to show an association between OCA2 variants and time to first cSCC post-transplant. | Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
Wei L, Allain DC, Bernhardt MN, Gillespie JL, Peters SB, Iwenofu OH, Nelson HH, Arron ST, Toland AE., Free PMC Article | 06/23/2018 |
| Evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population. | Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population.
Andrade ES, Fracasso NCA, Strazza Júnior PS, Simões AL, Mendes-Junior CT. | 08/26/2017 |
| We analyzed five SNPs located in the 44.2 kb region and three SNPs outside this region with strong selective signals. Under the additive genetic model, we detected a significant association of rs1800414 with skin pigmentation for both exposed and unexposed areas consistent with a previous association analysis of rs1800414 No significant association was observed for the other seven SNPs (P > 0.05) | A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.
Yang Z, Zhong H, Chen J, Zhang X, Zhang H, Luo X, Xu S, Chen H, Lu D, Han Y, Li J, Fu L, Qi X, Peng Y, Xiang K, Lin Q, Guo Y, Li M, Cao X, Zhang Y, Liao S, Peng Y, Zhang L, Guo X, Dong S, Liang F, Wang J, Willden A, Seang Aun H, Serey B, Sovannary T, Bunnath L, Samnom H, Mardon G, Li Q, Meng A, Shi H, Su B., Free PMC Article | 07/1/2017 |
| Two nonsynonymous OCA2 polymorphisms (rs1800414 and rs74653330) are independently associated with normal skin pigmentation variation in East Asian populations and have very different frequency distributions in East Asia. | Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations.
Eaton K, Edwards M, Krithika S, Cook G, Norton H, Parra EJ. | 04/9/2016 |
| The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of Oculocutaneous albinism. | Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X., Free PMC Article | 04/9/2016 |
| variations in OCA2 might have developed by diversifying selection. | Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese.
Shimanuki M, Abe Y, Tamiya G, Ueki M, Hozumi Y, Suzuki T. | 11/21/2015 |
| individuals from ''El Santuario and Marinilla, Antioquia'', genetically isolated northwestern towns in Colombia well known for its high albinism prevalence [7], were all homozygous for the previously reported p.A787T mutation in OCA2 gene | Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
Urtatiz O, Sanabria D, Lattig MC. | 08/8/2015 |
| REVIEW: current hypotheses and the available data on the mechanism of OCA2 transcriptional regulation and how this is influenced by genetic variation | Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.
Visser M, Kayser M, Grosveld F, Palstra RJ. | 11/8/2014 |
| 4 heterozygous mutations of the P gene were found two Chinese families affected with oculocutaneous albinism type . | [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].
Hu H, Wang H, Jia Z, Xie Q. | 10/11/2014 |
| The most disease-associated mutation of R305W which corresponds to OCA2 results showed prominent loss of stability and rise in mutant flexibility values in 3D space. | Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B, Purohit R. | 09/27/2014 |
| Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. c.2139G>A represents the first exonic splicing mutation identified in an OCA2 gene. | Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P. | 04/5/2014 |