Literature DB >> 15451

Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay.

R A King, C J Witkop.   

Abstract

Five heterozygotes for ty-neg OCA had absent or markedly reduced hairbulb tyrosinase activity, when compared to normally pigmented control subjects. Clinically, all five were fully pigmented and could not be distinguished from the normal control subjects. It is proposed that the quantitative hairbulb tyrosinase assay can be used to detect heterozygotes for ty-neg OCA. A mechanism to explain the low levels of activity in the hairbulbs from heterozygotes is discussed.

Entities:  

Mesh：

Substances：

Year:  1977        PMID： 15451      PMCID： PMC1685269     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

1.  Subcellular localization of melanin biosynthesis.

Authors:  M SEIJI; K SHIMAO; M S BIRBECK; T B FITZPATRICK
Journal:  Ann N Y Acad Sci       Date:  1963-02-15       Impact factor: 5.691

2.  The reciprocal relationship between melanization and tyrosinase activity in melanosomes (melanin granules).

Authors:  M SEIJI; T B FITZPATRICK
Journal:  J Biochem       Date:  1961-06       Impact factor: 3.387

3.  Albinism in Northern Ireland.

Authors:  P FROGGATT
Journal:  Ann Hum Genet       Date:  1960-07       Impact factor: 1.670

4.  Association of cell surface receptors for melanotropin with the Golgi region in mouse melanoma cells.

Authors:  J M Varga; G Moellmann; P Fritsch; E Godawska; A B Lerner
Journal:  Proc Natl Acad Sci U S A       Date:  1976-02       Impact factor: 11.205

5.  Critical stages of hair development and pigmentation in the mouse.

Authors:  H B CHASE; R RAUCH; V W SMITH
Journal:  Physiol Zool       Date:  1951-01

6.  Biochemistry of melanin formation.

Authors:  A B LERNER; T B FITZPATRICK
Journal:  Physiol Rev       Date:  1950-01       Impact factor: 37.312

7.  Separation and characterization of multiple forms of tyrosinase from mouse melanoma.

Authors:  J B Burnett; H Seiler; I V Brown
Journal:  Cancer Res       Date:  1967-05       Impact factor: 12.701

8.  The tyrosine hydroxylase activity of mammalian tyrosinase.

Authors:  S H Pomerantz
Journal:  J Biol Chem       Date:  1966-01-10       Impact factor: 5.157

9.  The tyrosinases of mouse melanoma. Isolation and molecular properties.

Authors:  J B Burnett
Journal:  J Biol Chem       Date:  1971-05-25       Impact factor: 5.157

10.  Activation of tyrosinase in microsomes and melanosomes from B16 and Harding-Passey melanomas.

Authors:  I A Menon; H F Haberman
Journal:  Arch Biochem Biophys       Date:  1970-03       Impact factor: 4.013
View more
  9 in total

Review 1.  Human hair follicle cells in culture: the development of a new culture system and its potential applications.

Authors:  A J Vermorken; H Bloemendal
Journal:  Mol Biol Rep       Date:  1986       Impact factor: 2.316

2.  Albinism: phenotype or genotype?

Authors:  D B van Dorp; N J van Haeringen; J W Delleman; P Apkarian; W Westerhof
Journal:  Doc Ophthalmol       Date:  1983-12-15       Impact factor: 2.379

3.  Determination of arylsulfatase C in hair follicles.

Authors:  J C Meyer; H P Grundmann; U W Schnyder
Journal:  Arch Dermatol Res       Date:  1979-08       Impact factor: 3.017

4.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

5.  Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Authors:  Helen J Kuht; Gail D E Maconachie; Jinu Han; Line Kessel; Maria M van Genderen; Rebecca J McLean; Michael Hisaund; Zhanhan Tu; Richard W Hertle; Karen Gronskov; Dayong Bai; Aihua Wei; Wei Li; Yonghong Jiao; Vasily Smirnov; Jae-Hwan Choi; Martin D Tobin; Viral Sheth; Ravi Purohit; Basu Dawar; Ayesha Girach; Sasha Strul; Laura May; Fred K Chen; Rachael C Heath Jeffery; Abdullah Aamir; Ronaldo Sano; Jing Jin; Brian P Brooks; Susanne Kohl; Benoit Arveiler; Lluis Montoliu; Elizabeth C Engle; Frank A Proudlock; Garima Nishad; Prateek Pani; Girish Varma; Irene Gottlob; Mervyn G Thomas
Journal:  Ophthalmology       Date:  2022-02-11       Impact factor: 14.277

6.  Detection of inherited metabolic diseases in children with mental handicap.

Authors:  Chetna Bhatt; Zarangis Misra; Neelam Goyel
Journal:  Indian J Clin Biochem       Date:  2008-03-06

7.  Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

Authors:  I R Walpole; M T Mulcahy
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

8.  A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: comparison with erythrocyte activity.

Authors:  J J Hoo; T Strohmeyer; W J Beckermann; D P Agarwal; H W Goedde
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Laboratory screening for metabolic eye disease: a review.

Authors:  A F Winder
Journal:  J R Soc Med       Date:  1981-08       Impact factor: 18.000
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.