Literature DB >> 20861851

Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

Moumita Chaki, Mainak Sengupta, Maitreyee Mondal, Abhisek Bhattacharya, Shampa Mallick, Ranjan Bhadra, Kunal Ray.   

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Year:  2010        PMID： 20861851     DOI： 10.1038/jid.2010.274

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  22 in total

1.  Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos.

Authors:  Mainak Sengupta; Devroop Sarkar; Maitreye Mondal; Swapan Samanta; Asim Sil; Kunal Ray
Journal:  J Genet       Date:  2013       Impact factor: 1.166

2.  The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Authors:  Vincent Michaud; Eulalie Lasseaux; David J Green; Dave T Gerrard; Claudio Plaisant; Tomas Fitzgerald; Ewan Birney; Benoît Arveiler; Graeme C Black; Panagiotis I Sergouniotis
Journal:  Nat Commun       Date:  2022-07-08       Impact factor: 17.694

3.  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

4.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

5.  Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.

Authors:  Olga Lavinda; Prashiela Manga; Seth J Orlow; Timothy Cardozo
Journal:  Front Pharmacol       Date:  2021-04-28       Impact factor: 5.810

6.  Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Authors:  Thomas J Jaworek; Tasleem Kausar; Shannon M Bell; Nabeela Tariq; Muhammad Imran Maqsood; Asma Sohail; Muhmmmad Ali; Furhan Iqbal; Shafqat Rasool; Saima Riazuddin; Rehan S Shaikh; Zubair M Ahmed
Journal:  Orphanet J Rare Dis       Date:  2012-06-26       Impact factor: 4.123

7.  Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Authors:  Abdullah Aamir; Helen J Kuht; Karen Grønskov; Brian P Brooks; Mervyn G Thomas
Journal:  Eur J Hum Genet       Date:  2021-01-27       Impact factor: 5.351

8.  Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch.

Authors:  Muhammad Adnan Shan; Olivia Strunge Meyer; Mie Refn; Niels Morling; Jeppe Dyrberg Andersen; Claus Børsting
Journal:  Genes (Basel)       Date:  2021-05-13       Impact factor: 4.096

Review 9.  Human pigmentation genes under environmental selection.

Authors:  Richard A Sturm; David L Duffy
Journal:  Genome Biol       Date:  2012-09-26       Impact factor: 13.583

10.  Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population.

Authors:  Yuxin Wang
Journal:  Hereditas       Date:  2021-07-08       Impact factor: 3.271
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