Literature DB >> 9259202

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

R A Spritz1, 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.   

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Year:  1997        PMID： 9259202     DOI： 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

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

Authors:  T Wang; C T Waters; T Jakins; J R W Yates; D Trump; K Bradshaw; A T Moore
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

Review 2.  Structure-function correlations in tyrosinases.

Authors:  Margarita Kanteev; Mor Goldfeder; Ayelet Fishman
Journal:  Protein Sci       Date:  2015-07-07       Impact factor: 6.725

Review 3.  Actinobacterial melanins: current status and perspective for the future.

Authors:  Panchanathan Manivasagan; Jayachandran Venkatesan; Kannan Sivakumar; Se-Kwon Kim
Journal:  World J Microbiol Biotechnol       Date:  2013-04-18       Impact factor: 3.312

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

Authors:  Richard A King; Jacy Pietsch; James P Fryer; Sarah Savage; Marcia J Brott; Isabelle Russell-Eggitt; C Gail Summers; William S Oetting
Journal:  Hum Genet       Date:  2003-09-10       Impact factor: 4.132

5.  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

6.  Delineating the genetic heterogeneity of OCA in Hungarian patients.

Authors:  Beáta Fábos; Katalin Farkas; Lola Tóth; Adrienn Sulák; Kornélia Tripolszki; Mariann Tihanyi; Réka Németh; Krisztina Vas; Zsanett Csoma; Lajos Kemény; Márta Széll; Nikoletta Nagy
Journal:  Eur J Med Res       Date:  2017-06-19       Impact factor: 2.175

7.  Zika Virus Infection of Sertoli Cells Alters Protein Expression Involved in Activated Immune and Antiviral Response Pathways, Carbohydrate Metabolism and Cardiovascular Disease.

Authors:  Mahamud-Ur Rashid; Ying Lao; Victor Spicer; Kevin M Coombs
Journal:  Viruses       Date:  2022-02-11       Impact factor: 5.048

8.  Highly efficient A-to-G base editing by ABE8.17 in rabbits.

Authors:  Ding Zhao; Yuqiang Qian; Jinze Li; Zhanjun Li; Liangxue Lai
Journal:  Mol Ther Nucleic Acids       Date:  2022-01-28       Impact factor: 8.886

9.  Phenylthiourea Binding to Human Tyrosinase-Related Protein 1.

Authors:  Xuelei Lai; Harry J Wichers; Montserrat Soler-Lopez; Bauke W Dijkstra
Journal:  Int J Mol Sci       Date:  2020-01-30       Impact factor: 5.923
  9 in total

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