| 1 | LRMDA, OCA1, OCA2, OCA3, OCA4, OCA6, OCA7, SLC24A5, SLC45A2, TYR, TYRP1
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| Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis
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| Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J
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| Pigment Cell Melanoma Res. Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29 2019
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| 2 | CRYBA1, FRMD7, TYR
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| Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
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| Thomas MG, Maconachie G, Sheth V, McLean RJ, Gottlob I.
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| Eur J Hum Genet 25(6):725-734. doi: 10.1038/ejhg.2017.44. Epub 2017 Apr 5.
2017
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| 3 | OCA1, OCA1B, OCA2, TYR
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| Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
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| Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
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| PLoS One 10(4):e0125651. doi: 10.1371/journal.pone.0125651. eCollection 2015.
2015
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| 4 | LEF1, TYR
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| LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.
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| Wang X, Liu Y, Chen H, Mei L, He C, Jiang L, Niu Z, Sun J, Luo H, Li J, Feng Y.
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| PLoS One 10(11):e0143142. doi: 10.1371/journal.pone.0143142. eCollection 2015.
2015
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| 5 | HPS3, TYR, TYRP1
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| Iron upregulates melanogenesis in cultured retinal pigment epithelial cells.
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| Wolkow N, Li Y, Maminishkis A, Song Y, Alekseev O, Iacovelli J, Song D, Lee JC, Dunaief JL.
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| Exp Eye Res 128:92-101. doi: 10.1016/j.exer.2014.09.010. Epub 2014 Sep 30.
2014
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| 6 | ASIP, CDK4, CDKN2A, CMM1, CMM2, CMM20, CMM3, CMM4, MC1R, TYR, TYRP1
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| Genetic risk factors for melanoma.
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| Meyle KD, Guldberg P.
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| Hum Genet 126(4):499-510. Epub 2009 Jul 8. Review.
2009
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| 7 | TYR
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| Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision.
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| Kubal A, Dagnelie G, Goldberg M.
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| J AAPOS 13(6):610-2.
2009
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| 8 | TYR
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| Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
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| Rosenmann A, Bejarano-Achache I, Eli D, Maftsir G, Mizrahi-Meissonnier L, Blumenfeld A.
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| Prenat Diagn 29(10):939-46.
2009
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| 9 | TYR
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| Genome-wide association study of tanning phenotype in a population of European ancestry.
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| Nan H, Kraft P, Qureshi AA, Guo Q, Chen C, Hankinson SE, Hu FB, Thomas G, Hoover RN, Chanock S, Hunter DJ, Han J.
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| J Invest Dermatol 129(9):2250-7. Epub 2009 Apr 2.
2009
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| 10 | TYR
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| Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
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| Nan H, Kraft P, Hunter DJ, Han J.
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| Int J Cancer 125(4):909-17.
2009
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| 11 | TYR
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| Inhibition of melanogenesis by tyrosinase siRNA in human melanocytes.
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| An SM, Koh JS, Boo YC.
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| BMB Rep 42(3):178-83.
2009
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| 12 | ATP7A, TYR
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| Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
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| Setty SR, Tenza D, Sviderskaya EV, Bennett DC, Raposo G, Marks MS.
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| Nature 454(7208):1142-6. Epub 2008 Jul 23.
2008
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| 13 | SLC24A4, KITLG, TYR, MC1R, OCA2, HERC2, HECD
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| Genetic determinants of hair, eye and skin pigmentation in Europeans.
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| Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, P‡lsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.
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| Nat Genet 39(12):1443-52. Epub 2007 Oct 21. 2007
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| 14 | OCA1, TYR, OCA3, TYRP1, OCA1B
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| Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
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| Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER.
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| Clin Genet 68(2):182-4. No abstract available. 2005
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| 15 | TYR, OCA1, OCA1B
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| Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.
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| Zahed L, Zahreddine H, Noureddine B, Rebeiz N, Shakar N, Zalloua P, Haddad F.
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| J Hum Genet 50(6):317-9. Epub 2005 Jun 4. 2005
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| 16 | OCA1, TYR
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| Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
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| King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.
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| Hum Genet 113(6):502-13. Epub 2003 Sep 10. 2003
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| 17 | TYR, TYRP1, PRKCB
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| Protein kinase C-beta-mediated complex formation between tyrosinase and TRP-1.
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| Wu H, Park HY.
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| Biochem Biophys Res Commun 311(4):948-53. 2003
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| 18 | TP53, TYR
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| Tyrosinase gene expression is regulated by p53.
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| Khlgatian MK, Hadshiew IM, Asawanonda P, Yaar M, Eller MS, Fujita M, Norris DA, Gilchrest BA.
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| J Invest Dermatol 118(1):126-32. 2002
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| 19 | OCA1, TYR, OCA1B
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| Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
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| Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D.
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| J Med Genet 38(1):35-8. 2001
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| 20 | OCA1, TYR
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| Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.
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| Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN.
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| Proc Natl Acad Sci U S A 97(11):5889-94. 2000
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| 21 | ART2P, KRTAP5-9, OMP, TYR, PHOX2A
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| A 5.5-Mb high-resolution integrated map of distal 11q13.
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| Merscher S, et al.
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| Genomics 39 : 340-347. 1997
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| 22 | OCA1, WS2A, TYR
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| Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
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| Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr.
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| Hum Mol Genet 6(5):659-64. 1997
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| 23 | OCA1, TYR
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| Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
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| Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.
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| Hum Mutat 10(2):171-4. No abstract available. 1997
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| 24 | OCA1, TYR
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| Type I oculocutaneous albinism associated with a full-length deletion ofthe tyrosinase gene.
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| Schnur RE, et al.
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| J Invest Dermatol 106 : 1137-1140. 1996
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| 25 | TYR, OCA1, OCA1B
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| Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
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| Fukai K, et al.
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| Nat Genet 9 : 92-95. 1995
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| 26 | TYR, OCA1
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| Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
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| Gershoni-Baruch R, et al.
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| Am J Hum Genet 54 : 586-594. 1994
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| 27 | OCA1, TYR
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| Type I oculocutaneous albinism (OCA1) associated with a large deletion of the tyrosinase (TYR) gene. (abstr)
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| Spritz RA, et al.
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| Am J Hum Genet 55 : A243. 1994
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| 28 | TYR, OCA1
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| Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
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| Tripathi RK, et al.
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| Am J Hum Genet 53 : 1173-1179. 1993
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| 29 | OCA1, TYR
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| Molecular basis of type I (tyrosinase-related) oculocutaneous albinism : mutations and polymorphisms of the human tyrosinase gene.
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| Oetting WS, et al.
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| Hum Mutat 2 : 1-6. 1993
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| 30 | TYR, OCA1
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| A dinucleotide deletion (-deltaGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
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| Oetting WS, et al.
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| Hum Mol Genet 2 : 1047-1048. 1993
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| 31 | TYR
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| An MboI polymorphism at codon 192 of the human tyrosinase gene is present in Asians and Afrocaribbeans.
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| Johnston JD, et al.
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| Nucleic acids Res 20 : 1433. 1992
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| 32 | OCA1, TYR
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| Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
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| Tripathi RK, et al.
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| Am J Med Genet 43 : 865-871. 1992
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| 33 | OCA1, TYR
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| Molecular analysis of type I-A (tyrosinase negative) oculocutanous albinism.
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| Oetting WS, et al.
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| Hum Genet 90 : 258-262. 1992
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| 34 | TYR, OCA1
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| Mutations of the tyrosinase gene in oculocutaneous albinism.
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| Shibahara S.
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| Pigment Cell Res 5 : 279-283. 1992
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| 35 | TYR
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| The Mbol polymorphism at codon 192 of the human tyrosinase gene is present in Asians and Afrocaribbeans.
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| Johnston JD, et al.
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| Biochem Soc Trans 20 : 41S. 1992
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| 36 | TYR
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| Tyrosinase gene mutations associated with type IB (yellow) oculocutaneous albinism.
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| Giebel LB, et al.
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| Am J Hum Genet 48 : 1159-1167. 1991
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| 37 | TYR
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| PCR detection of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene.
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| Oetting WS, et al.
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| Nucleic Acids Res 19 : 5800. 1991
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| 38 | TYR
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| Dinucleotide repeat polymorphism at the human tyrosinase gene.
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| Morris SW, et al.
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| Nucleic Acids Res 19 : 6968. 1991
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| 39 | OCA1, TYR
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| A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.
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| Tripathi RK, et al.
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| Gene Exp 1 : 103-110. 1991
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| 40 | TYR, TYRL
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| Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.
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| Giebel LB, et al.
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| Genomics 9 : 435-445. 1991
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| 41 | TYR
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| RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.
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| Giebel LB, et al.
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| Nucleic Acids Res 18 : 3103. 1990
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| 42 | TYR
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| RFLP for BgIII at the human tyrosinase (TYR) locus.
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| Spritz RA, et al.
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| Nucleic Acids Res 18 : 3672. 1990
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| 43 | OCA1, TYR
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| Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
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| Kikuchi H, et al.
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| Hum Genet 85 : 123-124. 1990
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| 44 | TYR
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| Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
|
| Tomita Y, et al.
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| Biochem Biophys Res Commun 164 : 990-996. 1989
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| 45 | TYR, TYRL
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| RFLP for TaqI at the human tyrosinase locus.
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| Spritz R, et al.
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| Nucleic Acids Res 16 : 9890. 1988
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| 46 | TYR, TYRL
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| Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7.
|
| Barton DE, et al.
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| Genomics 3 : 17-24. 1988
|