| TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations. | TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Chen C, Li J, Wang B, Wang Y, Yu X. | 06/28/2024 |
| Markers of Oxidative Stress and Tyrosinase Activity in Melasma Patients: A Biochemical Investigation. | Markers of Oxidative Stress and Tyrosinase Activity in Melasma Patients: A Biochemical Investigation.
Katiyar S, Yadav D, Singh SK. | 02/6/2024 |
| Dysregulation of tyrosinase activity: a potential link between skin disorders and neurodegeneration. | Dysregulation of tyrosinase activity: a potential link between skin disorders and neurodegeneration.
Jin W, Stehbens SJ, Barnard RT, Blaskovich MAT, Ziora ZM. | 01/8/2024 |
| Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1. | Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
Si S, Jia X, Xu L, Qin Q, Wu J, Ji W, Dong K, Zhang X, Cao L, Wang H, Liu P, Wang R, Bai J, Fu S, Huang Y, Sun W. | 11/2/2023 |
| Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism. | Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B, Chen X, Li H. | 10/30/2023 |
| The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. | The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V, Lasseaux E, Green DJ, Gerrard DT, Plaisant C, UK Biobank Eye and Vision Consortium, Fitzgerald T, Birney E, Arveiler B, Black GC, Sergouniotis PI., Free PMC Article | 07/16/2022 |
| Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1. | Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
Li C, Chen Q, Wu J, Ren J, Zhang M, Wang H, Li J, Tang Y., Free PMC Article | 06/11/2022 |
| 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 |
| 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. | 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.
Dhangar S, Panchal P, Ghatanatti J, Suralkar J, Shah A, Vundinti BR., Free PMC Article | 04/16/2022 |
| Hinokitiol-induced decreases of tyrosinase and microphthalmia-associated transcription factor are mediated by the endoplasmic reticulum-associated degradation pathway in human melanoma cells. | Hinokitiol-induced decreases of tyrosinase and microphthalmia-associated transcription factor are mediated by the endoplasmic reticulum-associated degradation pathway in human melanoma cells.
Oyama T, Ogawa H, Shirai Y, Abe H, Kamiya T, Abe T, Tanuma SI. | 02/5/2022 |
| Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. | Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, Zaiat J, Biagioli G, Fernandez C, Turjanski A, Campbell AJ, Mercado G, Marti MA. | 01/1/2022 |
| Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies. | Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Zhang J, Yu R, Guo X, Zou Y, Chen S, Zhou K, Chen Y, Li Y, Gao S, Wu Y., Free PMC Article | 11/27/2021 |
| Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism. | Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.
Chuan Z, Yan Y, Hao S, Zhang Q, Zhou B, Feng X, Wang X, Liu F, Zheng L, Cao Z, Ma X. | 11/13/2021 |
| Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus. | Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.
Xu T, Zhou Q, Li Y, Bai Y, Zhang W. | 08/21/2021 |
| 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 |
| Targeting Melanoma-Initiating Cells by Caffeine: In Silico and In Vitro Approaches. | Targeting Melanoma-Initiating Cells by Caffeine: In Silico and In Vitro Approaches.
Tabolacci C, Cordella M, Rossi S, Bonaccio M, Eramo A, Mischiati C, Beninati S, Iacoviello L, Facchiano A, Facchiano F., Free PMC Article | 07/31/2021 |
| Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study. | Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study.
Awad SS, Moftah NH, Rashed LA, Touni AA, Telep RAA. | 06/5/2021 |
| Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities. | Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.
Ganguly K, Dutta T, Saha A, Sarkar D, Sil A, Ray K, Sengupta M. | 03/27/2021 |
| UP256 Inhibits Hyperpigmentation by Tyrosinase Expression/Dendrite Formation via Rho-Dependent Signaling and by Primary Cilium Formation in Melanocytes. | UP256 Inhibits Hyperpigmentation by Tyrosinase Expression/Dendrite Formation via Rho-Dependent Signaling and by Primary Cilium Formation in Melanocytes.
Kang MC, Lee JW, Lee TH, Subedi L, Wahedi HM, Do SG, Shin E, Moon EY, Kim SY., Free PMC Article | 02/20/2021 |
| Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. | Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
Meyer OS, Lunn MMB, Garcia SL, Kjærbye AB, Morling N, Børsting C, Andersen JD., Free PMC Article | 11/21/2020 |
| 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 recombinant human intra-melanosomal domains of tyrosinase, TYRtr (19-469), and tyrosinase-related protein 1, TYRP1tr (25-472), were studied in vitro to define their functional relationship. | The TYRP1-mediated protection of human tyrosinase activity does not involve stable interactions of tyrosinase domains.
Dolinska MB, Wingfield PT, Young KL 2nd, Sergeev YV., Free PMC Article | 06/27/2020 |
| The R402Q variant of tyrosinase leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis. | Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B. | 03/21/2020 |
| DNp73-induced degradation of tyrosinase links depigmentation with epithelial mesenchymal transformation-driven melanoma progression. | DNp73-induced degradation of tyrosinase links depigmentation with EMT-driven melanoma progression.
Fürst K, Steder M, Logotheti S, Angerilli A, Spitschak A, Marquardt S, Schumacher T, Engelmann D, Herchenröder O, Rupp RAW, Pützer BM. | 11/2/2019 |
| In three families with oculocutaneous albinism, whole exome sequencing, followed by Sanger DNA sequencing for segregation analysis, revealed recurrent mutations c.346C>T (p.Arg116*) and c.1255G>A (p.Gly419Arg) (family A and B respectively) in TYR gene, while the patient from family C did not reveal any known gene mutation, which suggests the involvement of some novel genetic factor. | Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
Gul H, Ali MZ, Khan E, Zubair M, Badar M, Khan S, Shah AH, Khan MA. | 07/27/2019 |