Literature DB >> 16170149

Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.

T Wang, C T Waters, T Jakins, J R W Yates, D Trump, K Bradshaw, A T Moore.   

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Year:  2005        PMID： 16170149      PMCID： PMC1772864          DOI： 10.1136/bjo.2005.070243

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  5 in total

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

Authors:  K Toyofuku; I Wada; R A Spritz; V J Hearing
Journal:  Biochem J       Date:  2001-04-15       Impact factor: 3.857

2.  Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.

Authors:  L B Giebel; K M Strunk; R A Spritz
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

3.  Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).

Authors:  R A Spritz; J Oh; K Fukai; S A Holmes; L Ho; D Chitayat; T D France; M A Musarella; S J Orlow; R E Schnur; R G Weleber; A V Levin
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

4.  Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

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

Authors:  Ruth Halaban; Elaine Cheng; Daniel N Hebert
Journal:  J Invest Dermatol       Date:  2002-08       Impact factor: 8.551
  5 in total
  4 in total

1.  Purification of Recombinant Human Tyrosinase from Insect Larvae Infected with the Baculovirus Vector.

Authors:  Monika B Dolinska; Paul T Wingfield; Yuri V Sergeev
Journal:  Curr Protoc Protein Sci       Date:  2017-08-01

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

Authors:  Monika B Dolinska; Elena Kovaleva; Peter Backlund; Paul T Wingfield; Brian P Brooks; Yuri V Sergeev
Journal:  PLoS One       Date:  2014-01-02       Impact factor: 3.240

3.  Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

Authors:  Xuelei Lai; Montserrat Soler-Lopez; Harry J Wichers; Bauke W Dijkstra
Journal:  PLoS One       Date:  2016-08-23       Impact factor: 3.240

Review 4.  Analogs of human genetic skin disease in domesticated animals.

Authors:  Justin Finch; Stephanie Abrams; Amy Finch
Journal:  Int J Womens Dermatol       Date:  2017-03-03
  4 in total

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