Literature DB >> 14729846

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil.

D F Sena, S Finzi, K Rodgers, E Del Bono, J L Haines, J L Wiggs.   

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Year:  2004        PMID： 14729846      PMCID： PMC1757259          DOI： 10.1136/jmg.2003.010777

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  15 in total

1.  CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

Authors:  Fereshteh Chitsazian; Betsabeh Khoramian Tusi; Elahe Elahi; Heidar Amini Saroei; Mohammad H Sanati; Shahin Yazdani; Mohammad Pakravan; Navid Nilforooshan; Yadollah Eslami; Mohammad Ali Zare Mehrjerdi; Reza Zareei; Mahmood Jabbarvand; Ali Abdolahi; Ali R Lasheyee; Arash Etemadi; Behnaz Bayat; Mehdi Sadeghi; Mohammad M Banoei; Behnam Ghafarzadeh; Mohammad R Rohani; Akram Rismanchian; Yvonne Thorstenson; Mansoor Sarfarazi
Journal:  J Mol Diagn       Date:  2007-07       Impact factor: 5.568

2.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Authors:  Janey L Wiggs; Anne M Langgurth; Keri F Allen
Journal:  Trans Am Ophthalmol Soc       Date:  2014-07

3.  Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Authors:  Nobuo Fuse; Akiko Miyazawa; Kana Takahashi; Michiru Noro; Toru Nakazawa; Kohji Nishida
Journal:  Jpn J Ophthalmol       Date:  2010-02-12       Impact factor: 2.447

Review 4.  Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.

Authors:  Keri F Allen; Eric D Gaier; Janey L Wiggs
Journal:  Cold Spring Harb Perspect Med       Date:  2015-07-01       Impact factor: 6.915

5.  Astrocytes modulate neurodegenerative phenotypes associated with glaucoma in OPTN(E50K) human stem cell-derived retinal ganglion cells.

Authors:  Cátia Gomes; Kirstin B VanderWall; Yanling Pan; Xiaoyu Lu; Sailee S Lavekar; Kang-Chieh Huang; Clarisse M Fligor; Jade Harkin; Chi Zhang; Theodore R Cummins; Jason S Meyer
Journal:  Stem Cell Reports       Date:  2022-06-16       Impact factor: 7.294

6.  Primary Congenital Glaucoma and the Involvement of CYP1B1.

Authors:  Kiranpreet Kaur; Anil K Mandal; Subhabrata Chakrabarti
Journal:  Middle East Afr J Ophthalmol       Date:  2011-01

7.  Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.

Authors:  Mei Yang; Xiangming Guo; Xing Liu; Huangxuan Shen; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Shaohua Fang; Qingjiong Zhang
Journal:  Mol Vis       Date:  2009-02-27       Impact factor: 2.367

8.  Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Authors:  Mônica Barbosa de Melo; Anil K Mandal; Ivan M Tavares; Mohammed Hasnat Ali; Meha Kabra; José Paulo Cabral de Vasconcellos; Sirisha Senthil; Juliana M F Sallum; Inderjeet Kaur; Alberto J Betinjane; Christiane R Moura; Jayter S Paula; Karita A Costa; Mansoor Sarfarazi; Mauricio Della Paolera; Simone Finzi; Victor E F Ferraz; Vital P Costa; Rubens Belfort; Subhabrata Chakrabarti
Journal:  PLoS One       Date:  2015-05-15       Impact factor: 3.240

9.  Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.

Authors:  Mary Anna Carbone; Julien F Ayroles; Akihiko Yamamoto; Tatiana V Morozova; Steven A West; Michael M Magwire; Trudy F C Mackay; Robert R H Anholt
Journal:  PLoS One       Date:  2009-01-16       Impact factor: 3.240

10.  Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Authors:  Sabika Firasat; S Amer Riazuddin; Shaheen N Khan; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2008-11-03       Impact factor: 2.367
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