These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 30447237)

  • 1. The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
    Teramae A; Kobayashi Y; Kunimoto H; Nakajima K; Suzuki T; Tsuruta D; Fukai K
    J Invest Dermatol; 2019 May; 139(5):1143-1149. PubMed ID: 30447237
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 11858948
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of a Chinese family with oculocutaneous albinism.
    Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
    Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Electron microscopic DOPA reaction test for oculocutaneous albinism.
    Takizawa Y; Kato S; Matsunaga J; Aozaki R; Tomita Y; Nishikawa T; Shimizu H
    Arch Dermatol Res; 2000 Jun; 292(6):301-5. PubMed ID: 10929771
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    Am J Med Genet; 1992 Jul; 43(5):865-71. PubMed ID: 1642278
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 11295837
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetics of oculocutaneous albinism].
    Zühlke C; Stell A; Käsmann-Kellner B
    Ophthalmologe; 2007 Aug; 104(8):674-80. PubMed ID: 17646993
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS; King RA
    Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.
    Song Y; Zhang Y; Chen M; Deng J; Sui T; Lai L; Li Z
    EBioMedicine; 2018 Oct; 36():517-525. PubMed ID: 30274819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 7902671
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R
    Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 12028586
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.
    Toyofuku K; Wada I; Valencia JC; Kushimoto T; Ferrans VJ; Hearing VJ
    FASEB J; 2001 Oct; 15(12):2149-61. PubMed ID: 11641241
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tyrosinase gene mutations causing oculocutaneous albinisms.
    Tomita Y
    J Invest Dermatol; 1993 Feb; 100(2 Suppl):186S-190S. PubMed ID: 8433007
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
    King RA; Mentink MM; Oetting WS
    Mol Biol Med; 1991 Feb; 8(1):19-29. PubMed ID: 1943686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Oculocutaneous and ocular albinism].
    Kubasch AS; Meurer M
    Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
    King RA; Townsend D; Oetting W; Summers CG; Olds DP; White JG; Spritz RA
    J Clin Invest; 1991 Mar; 87(3):1046-53. PubMed ID: 1900307
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients.
    Tomita Y; Miyamura Y
    Nagoya J Med Sci; 1998 Oct; 61(3-4):97-102. PubMed ID: 9879192
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
    Giebel LB; Tripathi RK; King RA; Spritz RA
    J Clin Invest; 1991 Mar; 87(3):1119-22. PubMed ID: 1900309
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
    Oetting WS; Fryer JP; King RA
    Hum Mutat; 1998; 12(6):433-4. PubMed ID: 10671066
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.