Cargando…

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma. Methods: In total, 50 PCG cases either he...

Descripción completa

Detalles Bibliográficos
Autores principales:	Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333725/ https://www.ncbi.nlm.nih.gov/pubmed/25750510

Ejemplares similares

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2016)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
por: Souzeau, Emmanuelle, et al.
Publicado: (2019)

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
por: Souzeau, Emmanuelle, et al.
Publicado: (2017)

Quality of life in children with glaucoma: a qualitative interview study in Australia
por: Knight, Lachlan S W, et al.
Publicado: (2022)

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma
por: Young, Thomas K., et al.
Publicado: (2012)

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
por: Siggs, Owen M., et al.
Publicado: (2019)

Pathogenic genetic variants identified in Australian families with paediatric cataract
por: Jones, Johanna L, et al.
Publicado: (2022)

Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma
por: Burdon, Kathryn P., et al.
Publicado: (2010)

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals
por: Hollitt, Georgina L., et al.
Publicado: (2022)

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
por: Lucas, Sionne E. M., et al.
Publicado: (2018)

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia
por: Dave, Alpana, et al.
Publicado: (2013)

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
por: Zhou, Tiger, et al.
Publicado: (2017)

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2021)

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort
por: Souzeau, Emmanuelle, et al.
Publicado: (2022)

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia
por: Javadiyan, Shari, et al.
Publicado: (2017)

Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma
por: Zhou, Tiger, et al.
Publicado: (2016)

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
por: Gharahkhani, Puya, et al.
Publicado: (2018)

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants
por: Prem Senthil, Mallika, et al.
Publicado: (2022)

PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia
por: Souzeau, Emmanuelle, et al.
Publicado: (2018)

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research
por: Souzeau, Emmanuelle, et al.
Publicado: (2016)

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma
por: Fu, Haojie, et al.
Publicado: (2022)

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
por: Cuellar-Partida, Gabriel, et al.
Publicado: (2016)

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
por: Gharahkhani, Puya, et al.
Publicado: (2014)

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy
por: Van Bergen, Nicole J, et al.
Publicado: (2015)

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign
por: Staffieri, Sandra E., et al.
Publicado: (2018)

Normal-tension glaucoma is associated with cognitive impairment
por: Mullany, Sean, et al.
Publicado: (2022)

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
por: Javadiyan, Shari, et al.
Publicado: (2017)

Haemodialysis work environment contributors to job satisfaction and stress: a sequential mixed methods study
por: Hayes, Bronwyn, et al.
Publicado: (2015)

Primary Congenital Glaucoma and the Involvement of CYP1B1
por: Kaur, Kiranpreet, et al.
Publicado: (2011)

CYP1B1 gene: Implications in glaucoma and cancer
por: Alsubait, Arwa, et al.
Publicado: (2020)

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases
por: Kuot, Abraham, et al.
Publicado: (2017)

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes
por: Reis, Linda M., et al.
Publicado: (2016)

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract
por: Javadiyan, Shari, et al.
Publicado: (2016)

CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma
por: Faiq, Muneeb A, et al.
Publicado: (2015)

Quantification of localised vascular wedge‐shaped defects in glaucoma
por: Saks, Danit, et al.
Publicado: (2022)

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations
por: Ivanoshchuk, D.E., et al.
Publicado: (2020)

Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
por: Daniszewski, Maciej, et al.
Publicado: (2022)

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
por: Carpenter, Danielle, et al.
Publicado: (2017)

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma
por: Shah, Manali, et al.
Publicado: (2022)

Cost Analysis of Orthoptist-Led Neurofibromatosis Type 1 Screening Clinics
por: Kaur, Navdeep, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_8g78rb265r48ssqbkber4d2bq8