Literature DB >> 15996218

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

T Forshew, S Khaliq, L Tee, U Smith, C A Johnson, S Q Mehdi, E R Maher.   

Abstract

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Year:  2005        PMID： 15996218     DOI： 10.1111/j.1399-0004.2005.00460.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.

Authors:  Muhammad Shakil; Muhammad Ikram Ullah; Shabbir Hussain; Sabika Firasat; Saqib Mahmood; Haiba Kaul
Journal:  Int J Ophthalmol       Date:  2016-05-18       Impact factor: 1.779

2.  Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Authors:  Annagiusi Gargiulo; Francesco Testa; Settimio Rossi; Valentina Di Iorio; Simona Fecarotta; Teresa de Berardinis; Antonello Iovine; Adriano Magli; Sabrina Signorini; Elisa Fazzi; Maria Silvana Galantuomo; Maurizio Fossarello; Sandro Montefusco; Alfredo Ciccodicola; Alberto Neri; Claudio Macaluso; Francesca Simonelli; Enrico Maria Surace
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-14       Impact factor: 4.799

Review 3.  Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Authors:  Muhammad Ikram Ullah
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

4.  A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).

Authors:  Autumn R Brown; Kaylee Comai; Dominic Mannino; Haily McCullough; Yamini Donekal; Hunter C Meyers; Chiron W Graves; Hannah S Seidel
Journal:  PLoS One       Date:  2022-10-19       Impact factor: 3.752

5.  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

6.  Complex interactions of Tyrp1 in the eye.

Authors:  Hong Lu; Liyuan Li; Edmond R Watson; Robert W Williams; Eldon E Geisert; Monica M Jablonski; Lu Lu
Journal:  Mol Vis       Date:  2011-09-22       Impact factor: 2.367

7.  The South Asian genome.

Authors:  John C Chambers; James Abbott; Weihua Zhang; Ernest Turro; William R Scott; Sian-Tsung Tan; Uzma Afzal; Saima Afaq; Marie Loh; Benjamin Lehne; Paul O'Reilly; Kyle J Gaulton; Richard D Pearson; Xinzhong Li; Anita Lavery; Jana Vandrovcova; Mark N Wass; Kathryn Miller; Joban Sehmi; Laticia Oozageer; Ishminder K Kooner; Abtehale Al-Hussaini; Rebecca Mills; Jagvir Grewal; Vasileios Panoulas; Alexandra M Lewin; Korrinne Northwood; Gurpreet S Wander; Frank Geoghegan; Yingrui Li; Jun Wang; Timothy J Aitman; Mark I McCarthy; James Scott; Sarah Butcher; Paul Elliott; Jaspal S Kooner
Journal:  PLoS One       Date:  2014-08-12       Impact factor: 3.240

8.  Identification of the Role of Wnt/β-Catenin Pathway Through Integrated Analyses and in vivo Experiments in Vitiligo.

Authors:  Si-Jia Zhao; Hong Jia; Xiu-Lian Xu; Wen-Bo Bu; Qian Zhang; Xi Chen; Juan Ji; Jian-Fang Sun
Journal:  Clin Cosmet Investig Dermatol       Date:  2021-09-01

Review 9.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

10.  Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Authors:  Ighovie F Onojafe; Lucyanne H Megan; Madeline G Melch; Joseph O Aderemi; Ramakrishna P Alur; Mones S Abu-Asab; Chi-Chao Chan; Isa M Bernardini; Jessica S Albert; Tiziana Cogliati; David R Adams; Brian P Brooks
Journal:  Invest Ophthalmol Vis Sci       Date:  2018-10-01       Impact factor: 4.799
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