- Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
Department of Prenatal Diagnostic Center, Guangzhou Women and Children s Medical Center, Guangzhou Medical University, Guangzhou 510623, China
Proc Natl Acad Sci U S A 111:7415-20. 2014
- Ophthalmic drug discovery: novel targets and mechanisms for retinal diseases and glaucoma
Department of Ophthalmology and Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, China
Nat Rev Drug Discov 11:541-59. 2012
..This Review discusses the current state of ocular drug therapy and highlights future therapeutic opportunities...
- Ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for treatment of geographic atrophy in age-related macular degeneration
Shiley Eye Center and Institute for Genomic Medicine, University of California at San Diego, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 108:6241-5. 2011
..These findings suggest that CNTF delivered by the encapsulated cell technology implant appears to slow the progression of vision loss in GA, especially in eyes with 20/63 or better vision at baseline...
- Production of ELOVL4 transgenic pigs: a large animal model for Stargardt-like macular degeneration
Jeffrey R Sommer
Department of Animal Science, North Carolina State University, Raleigh, North Carolina, USA
Br J Ophthalmol 95:1749-54. 2011
..The authors generated transgenic pigs expressing human disease-causing ELOVL4 mutations to better model the pathobiology of this macular disease...
- Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids
Peter X Shaw
Molecular Medicine Research Center and Department of Ophthalmology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan, China
Proc Natl Acad Sci U S A 109:13757-62. 2012
..Together, these findings suggest that CFH influences AMD risk by modulating oxidative stress, inflammation, and abnormal angiogenesis...
- WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis
1 State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China 2 Department of Ophthalmology, and Biomaterial and Tissue Engineering Center of Institute of Engineering in Medicine, University of California San Diego, La Jolla, California 92093, USA
Nature 511:358-61. 2014
..These findings suggest a central role of the WNT7A-PAX6 axis in corneal epithelial cell fate determination, and point to a new strategy for treating corneal surface diseases...
- Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation
Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
Am J Ophthalmol 144:419-423. 2007
..To describe the unusual clinical manifestations and diagnostic evaluation of X-linked retinoschisis (XLR)...
- Common-path low-coherence interferometry fiber-optic sensor guided microincision
Johns Hopkins University, Department of Electrical and Computer Engineering, Baltimore, Maryland 21218, USA
J Biomed Opt 16:095003. 2011
- Slit-Robo signaling in ocular angiogenesis
Chinese University of Hong Kong, Shantou, China
Adv Exp Med Biol 664:457-63. 2010
..Further investigation is required to better understand Slit-Robo signaling and develop novel therapy for angiogenesis...
- An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy
Molecular Medicine Research Center and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China 610041
J Biol Chem 286:10210-5. 2011
..This study identified a new class of FZD4 gene mutations in human disease and demonstrates a critical role of the CRD in Norrin binding and activation of the β-catenin pathway...
- Genome-wide methylation profiles reveal quantitative views of human aging rates
Department of Bioengineering, University of California, San Diego, San Diego, CA 92093, USA
Mol Cell 49:359-67. 2013
..Our model highlights specific components of the aging process and provides a quantitative readout for studying the role of methylation in age-related disease...
- Mutant Gq/11 promote uveal melanoma tumorigenesis by activating YAP
Fa Xing Yu
Department of Pharmacology and Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA
Cancer Cell 25:822-30. 2014
..This study reveals an essential role of the Hippo-YAP pathway in Gq/11-induced tumorigenesis and suggests YAP as a potential drug target for UM patients carrying mutations in GNAQ or GNA11. ..
- RAD51 gene is associated with advanced age-related macular degeneration in Chinese population
Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, China Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, China
Clin Biochem 46:1689-93. 2013
..This study aims to investigate whether variations in RAD51, B3GALTL, TNFRSF10A and REST-C4ORF14-POLR2B-IGFBP7 are associated with advanced forms of age-related macular degeneration (AMD) in Chinese population...
- Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function
Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, California 92093, USA
J Biol Chem 287:11469-80. 2012
..Altogether, this study demonstrates the essential role of ELOVL4 in VLC-PUFA synthesis and retinal function...
- Current therapeutic approaches in neovascular age-related macular degeneration
Duy H Nguyen
Department of Ophthalmology, University of California San Diego, La Jolla, California 92093, USA
Discov Med 15:343-8. 2013
..Continued investigation into inhibiting VEGF as well as targeting other crucial factors that contribute to neovascular AMD is an active field of research that is expected to accelerate the progress of neovascular AMD therapy...
- High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6
Molecular Medicine Research Center and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, China
J Biol Chem 287:1520-6. 2012
..Furthermore, we showed enhanced SMAD signaling in htra1(-/-) mice. Our data suggests a critical role of HTRA1 in the regulation of angiogenesis via TGF-β signaling and identified GDF6 as a novel disease gene for AMD...
- Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors
Institute for Genomic Medicine and Shiley Eye Center, University of California, San Diego, USA
Arch Ophthalmol 129:344-51. 2011
- Induced pluripotent stem cell therapies for geographic atrophy of age-related macular degeneration
Institute for Genomic Medicine and Shiley Eye Center, University of California at San Diego, La Jolla, CA 92093, USA
Semin Ophthalmol 26:216-24. 2011
..For now, RPE cells and photoreceptors derived from patient-specific iPS cells can serve as a valuable tool in elucidating the mechanism of pathogenesis and drug discovery for GA...