1642278 28266639 1903591 27775880 25333069 21906913 28667292 24123366 9242509 11284711 1429711[uid] - Search Results

Year	Number of Results
1991	1
1992	2
1997	1
2001	1
2011	1
2013	1
2014	2
2017	3
2024	0

1

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. Tripathi RK, et al. Am J Med Genet. 1992 Jul 15;43(5):865-71. doi: 10.1002/ajmg.1320430523. Am J Med Genet. 1992. PMID: 1642278

2

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.

3

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. Giebel LB, et al. Am J Hum Genet. 1991 Jun;48(6):1159-67. Am J Hum Genet. 1991. PMID: 1903591 Free PMC article.

4

Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Dolinska MB, Kus NJ, Farney SK, Wingfield PT, Brooks BP, Sergeev YV. Dolinska MB, et al. Pigment Cell Melanoma Res. 2017 Jan;30(1):41-52. doi: 10.1111/pcmr.12546. Pigment Cell Melanoma Res. 2017. PMID: 27775880 Free PMC article.

5

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P. Freudenberg-Hua Y, et al. Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15. Mol Genet Genomic Med. 2014. PMID: 25333069 Free PMC article.

6

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

Hu HH, Guedj M, Descamps V, Jouary T, Bourillon A, Ezzedine K, Taieb A, Bagot M, Bensussan A, Saiag P, Grandchamp B, Basset-Seguin N, Soufir N. Hu HH, et al. J Dermatol Sci. 2011 Nov;64(2):127-33. doi: 10.1016/j.jdermsci.2011.07.003. Epub 2011 Aug 22. J Dermatol Sci. 2011. PMID: 21906913

7

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE. Norman CS, et al. Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. Sci Rep. 2017. PMID: 28667292 Free PMC article.

8

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, Gharbiah M, Malek JA, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chouchane L, Stadler DJ, Mezey JG, Crystal RG. Rodriguez-Flores JL, et al. Hum Mutat. 2014 Jan;35(1):105-16. doi: 10.1002/humu.22460. Epub 2013 Nov 10. Hum Mutat. 2014. PMID: 24123366 Free PMC article.

9

Mutational analysis of copper binding by human tyrosinase.

Spritz RA, Ho L, Furumura M, Hearing VJ Jr. Spritz RA, et al. J Invest Dermatol. 1997 Aug;109(2):207-12. doi: 10.1111/1523-1747.ep12319351. J Invest Dermatol. 1997. PMID: 9242509 Free article.

10

The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

Toyofuku K, Wada I, Spritz RA, Hearing VJ. Toyofuku K, et al. Biochem J. 2001 Apr 15;355(Pt 2):259-69. doi: 10.1042/0264-6021:3550259. Biochem J. 2001. PMID: 11284711 Free PMC article.

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