ArticleHuman molecular genetics2008
A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed.
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.Scientific reports · 2024Article
- AHuman mutation · 2024Article
- De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Article
- Ocular genetics in the genomics age.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Exome Sequencing in a Swiss Childhood Glaucoma Cohort RevealsTranslational vision science & technology · 2020Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Decoding NF1 Intragenic Copy-Number Variations.American journal of human genetics · 2015Article
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Cold Spring Harbor perspectives in medicine · 2015Review
- Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.The Journal of clinical investigation · 2014Article
- Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.Investigative ophthalmology & visual science · 2014Article
- Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.PLoS genetics · 2013Article
- Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Genetics of anterior segment dysgenesis disorders.Current opinion in ophthalmology · 2011Review
- Novel retrotransposed imprinted locus identified at human 6p25.Nucleic acids research · 2011Article
- Article
- Copy number variations and primary open-angle glaucoma.Investigative ophthalmology & visual science · 2011Article
- A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.American journal of medical genetics. Part A · 2011Article
- Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.European journal of human genetics : EJHG · 2009Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
The factors that mediate chromosomal rearrangement remain incompletely defined. Among regions prone to structural variant formation, chromosome 6p25 is one of the few in which disease-associated segmental duplications and segmental deletions have been identified, primarily through gene dosage attributable ocular phenotypes. Using array comparative genome hybridization, we studied ten 6p25 duplication and deletion pedigrees and amplified junction fragments from each. Analysis of the breakpoint architecture revealed that all the rearrangements were non-recurrent, and in contrast to most previous examples the majority of the segmental duplications and deletions utilized coupled homologous and non-homologous recombination mechanisms. One junction fragment exhibited an unprecedented 367 bp insert derived from tandemly arranged breakpoint elements. While this accorded with a recently described replication-based mechanism, it differed from the previous example in being unassociated with template switching, and occurring in a segmental deletion. These results extend the mechanisms involved in structural variant formation, provide strong evidence that a spectrum of recombination, DNA repair and replication underlie 6p25 rearrangements, and have implications for genesis of copy number variations in other genomic regions. These findings highlight the benefits of undertaking the extensive studies necessary to characterize structural variants at the base pair level.
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