Functional analysis ofCYP1B1mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma-Reference-Cited by-同舟云学术

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Functional analysis ofCYP1B1mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma

Published:2010-01 Issue:1 Volume:77 Page:70-78
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

LÃ³pez-Garrido M-P,Blanco-Marchite C,SÃ¡nchez-SÃ¡nchez F,LÃ³pez-SÃ¡nchez E,ChaquÃ©s-Alepuz V,Campos-Mollo E,Salinas-SÃ¡nchez AS,Escribano J

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01284.x/fullpdf

Reference24 articles.

1. Retinal ganglion cell death in experimental glaucoma and after axotomy occurs by apoptosis;Quigley;Invest Ophthalmol Vis Sci,1995

2. An evaluation of optic disc and nerve fiber layer examinations in monitoring progression of early glaucoma damage;Quigley;Ophthalmology,1992

3. Gene mapping for primary open angle glaucoma;Fan;Clin Biochem,2006

4. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21;Stoilov;Hum Mol Genet,1997

5. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene;Vincent;Am J Hum Genet,2002

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1. Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma;PLOS ONE;2024-01-19

2. High prevalence of glaucoma-associated CYP1B1 mutation (p.G61E) in primary congenital and open angle glaucoma patients in Pakistan;Journal of the National Science Foundation of Sri Lanka;2022-10-31

3. Polymorphisms in CYP1B1 gene and the risk of suffering Primary Open-Angle Glaucoma: Systematic review and meta-analysis;European Journal of Ophthalmology;2022-02-09

4. Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes;International Journal of Molecular Sciences;2021-06-16

5. Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations;International Ophthalmology;2021-05-21

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