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Results: 1 to 20 of 110

1.

Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

Dolinska MB, Kovaleva E, Backlund P, Wingfield PT, Brooks BP, Sergeev YV.

PLoS One. 2014 Jan 2;9(1):e84494. doi: 10.1371/journal.pone.0084494. eCollection 2014.

PMID:
24392141
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

Biochem J. 2001 Apr 15;355(Pt 2):259-69.

PMID:
11284711
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A Tyrosinase missense mutation causes albinism in the Wistar rat.

Blaszczyk WM, Arning L, Hoffmann KP, Epplen JT.

Pigment Cell Res. 2005 Apr;18(2):144-5.

PMID:
15760344
[PubMed - indexed for MEDLINE]
4.

The tyrosinase gene in gorillas and the albinism of 'Snowflake'.

Martínez-Arias R, Comas D, Andrés A, Abelló MT, Domingo-Roura X, Bertranpetit J.

Pigment Cell Res. 2000 Dec;13(6):467-70.

PMID:
11153699
[PubMed - indexed for MEDLINE]
5.

Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.

Ray K, Chaki M, Sengupta M.

Prog Retin Eye Res. 2007 Jul;26(4):323-58. Epub 2007 Jan 17. Review.

PMID:
17355913
[PubMed - indexed for MEDLINE]
6.

Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).

Oetting WS, King RA.

Pigment Cell Res. 1994 Oct;7(5):285-90.

PMID:
7886000
[PubMed - indexed for MEDLINE]
7.
8.

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.

Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.

PMID:
13680365
[PubMed - indexed for MEDLINE]
9.

Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants.

Halaban R, Cheng E, Hebert DN.

J Invest Dermatol. 2002 Aug;119(2):481-8.

PMID:
12190874
[PubMed - indexed for MEDLINE]
Free Article
10.

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M.

Hum Mutat. 2001 Apr;17(4):352.

PMID:
11295837
[PubMed - indexed for MEDLINE]
11.

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.

Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN.

Proc Natl Acad Sci U S A. 2000 May 23;97(11):5889-94.

PMID:
10823941
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular cloning, gene expression in albino mutants and gene knockdown studies of tyrosinase mRNA in rainbow trout.

Boonanuntanasarn S, Yoshizaki G, Iwai K, Takeuchi T.

Pigment Cell Res. 2004 Aug;17(4):413-21.

PMID:
15250944
[PubMed - indexed for MEDLINE]
13.

Tyrosinase gene mutations causing oculocutaneous albinisms.

Tomita Y.

J Invest Dermatol. 1993 Feb;100(2 Suppl):186S-190S. Review.

PMID:
8433007
[PubMed - indexed for MEDLINE]
14.

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA.

Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8.

PMID:
1970634
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.

Oetting WS.

Pigment Cell Res. 2000 Oct;13(5):320-5. Review.

PMID:
11041207
[PubMed - indexed for MEDLINE]
16.

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.

Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ.

Pigment Cell Res. 2002 Jun;15(3):217-24. Erratum in: Pigment Cell Res. 2002 Oct;15(5):400..

PMID:
12028586
[PubMed - indexed for MEDLINE]
17.

Mutational mapping of the catalytic activities of human tyrosinase.

Tripathi RK, Hearing VJ, Urabe K, Aroca P, Spritz RA.

J Biol Chem. 1992 Nov 25;267(33):23707-12.

PMID:
1429711
[PubMed - indexed for MEDLINE]
Free Article
18.

A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y.

J Dermatol Sci. 2002 Feb;28(2):102-5.

PMID:
11858948
[PubMed - indexed for MEDLINE]
19.

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA.

Am J Hum Genet. 1993 Dec;53(6):1173-9.

PMID:
7902671
[PubMed - indexed for MEDLINE]
Free PMC Article
20.
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