CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
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Title
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2019-01-26
DOI
10.1093/hmg/ddz029
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Note: Only part of the references are listed.- Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing
- (2018) Lin Zhou et al. EXPERIMENTAL EYE RESEARCH
- Perspective: Can eye movements contribute to emmetropization?
- (2018) Michele Rucci et al. JOURNAL OF VISION
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- (2018) Lin Li et al. PLoS Genetics
- Gene expression in response to optical defocus of opposite signs reveals bidirectional mechanism of visually guided eye growth
- (2018) Tatiana V. Tkatchenko et al. PLOS BIOLOGY
- Targeting cleavage and polyadenylation specific factor 1 via shRNA inhibits cell proliferation in human ovarian cancer
- (2017) Beiguang Zhang et al. JOURNAL OF BIOSCIENCES
- Genetic prediction of myopia: prospects and challenges
- (2017) Jeremy A. Guggenheim et al. OPHTHALMIC AND PHYSIOLOGICAL OPTICS
- Trio-based exome sequencing arrests de novo mutations in early-onset high myopia
- (2017) Zi-Bing Jin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis
- (2017) Seth R Flaxman et al. Lancet Global Health
- Epigenetic silencing of downstream genes mediated by tandem orientation in lung cancer
- (2017) Steffen Kiehl et al. Scientific Reports
- The Distinct Biometric Features of High Myopia Compared to Moderate Myopia
- (2016) Hye Jin Chung et al. CURRENT EYE RESEARCH
- Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
- (2016) Yan Xu et al. EXPERIMENTAL EYE RESEARCH
- Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
- (2016) Li Huang et al. EXPERIMENTAL EYE RESEARCH
- Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050
- (2016) Brien A. Holden et al. OPHTHALMOLOGY
- Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia
- (2015) Hui Guo et al. GENETICS IN MEDICINE
- Evaluation of 12 Myopia-Associated Genes in Chinese Patients With High Myopia
- (2015) J. Li et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- The myopia boom
- (2015) Elie Dolgin NATURE
- Zebrafish Models of Retinal Disease
- (2015) Brian A. Link et al. Annual Review of Vision Science
- Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing
- (2014) D. Jiang et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- SLC39A5mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
- (2014) Hui Guo et al. JOURNAL OF MEDICAL GENETICS
- Recessive Mutations inLEPREL1Underlie a Recognizable Lens Subluxation Phenotype
- (2014) Arif O. Khan et al. OPHTHALMIC GENETICS
- SLC7A14 linked to autosomal recessive retinitis pigmentosa
- (2014) Zi-Bing Jin et al. Nature Communications
- Mutations in LRPAP1 Are Associated with Severe Myopia in Humans
- (2013) Mohammed A. Aldahmesh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
- (2013) Khanh-Nhat Tran-Viet et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic and environmental effects on myopia development and progression
- (2013) E Goldschmidt et al. EYE
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
- (2013) Virginie J M Verhoeven et al. NATURE GENETICS
- Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia
- (2013) Panfeng Wang et al. OPTOMETRY AND VISION SCIENCE
- Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia
- (2013) Amy K. Kiefer et al. PLoS Genetics
- Myopia
- (2012) Ian G Morgan et al. LANCET
- cpsf1 is required for definitive HSC survival in zebrafish
- (2011) N. Bolli et al. BLOOD
- Visuospatial information in the retinotectal system of xenopus before correct image formation by the developing eye
- (2011) Blake A. Richards et al. Developmental Neurobiology
- Exome Sequencing Identifies ZNF644 Mutations in High Myopia
- (2011) Yi Shi et al. PLoS Genetics
- A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa
- (2010) Lin Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
- (2010) Katherine V. Towns et al. HUMAN MUTATION
- The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors
- (2010) Paul N. Baird et al. PROGRESS IN RETINAL AND EYE RESEARCH
- How to do successful gene expression analysis using real-time PCR
- (2009) Stefaan Derveaux et al. METHODS
- Phenotypic Expression of a PRPF8 Gene Mutation in a Large African American Family
- (2008) Saloni Walia ARCHIVES OF OPHTHALMOLOGY
- Prevalence of Myopia in Urban and Rural Children in Mainland China
- (2008) Mingguang He et al. OPTOMETRY AND VISION SCIENCE
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