A5050723849- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Ophthalmology and Visual Impairment Studies
- Cellular transport and secretion
- Connexins and lens biology
- Reproductive Biology and Fertility
- Glaucoma and retinal disorders
- Genomics and Rare Diseases
- Microtubule and mitosis dynamics
- RNA regulation and disease
- DNA Repair Mechanisms
- Ocular Oncology and Treatments
- Ubiquitin and proteasome pathways
- Ophthalmology and Eye Disorders
- Genomic variations and chromosomal abnormalities
- Retinal and Macular Surgery
- Hereditary Neurological Disorders
- Genetics, Aging, and Longevity in Model Organisms
- Medical Research and Treatments
- Cancer Genomics and Diagnostics
- Photoreceptor and optogenetics research
- Neurological diseases and metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- MicroRNA in disease regulation
Affiliated Eye Hospital of Wenzhou Medical College
2016-2024
Wenzhou Medical University
2016-2024
Monash University
2023-2024
Australian Regenerative Medicine Institute
2023-2024
Institute for Stem Cell Biology and Regenerative Medicine
2019
State Key Laboratory of Ophthalmology
2017
Significance Because preschool children encounter fewer risks from environmental pressures, we propose that the condition of early-onset high myopia (EOHM) is driven by a genetic predisposition more than factors. In this study, recruited 18 familial trios to decipher using whole-exome sequencing. We identified cluster unique genes linked EOHM, as well mutations in reported genes. Notably, showed both rare inherited and de novo significantly contributed EOHM. Expression profiling ocular...
Significance The polycistronic miR-183/96/182 cluster is highly expressed in various types of terminally differentiating sensory neurons, including photoreceptors. Although miR-182 single-knockout mice do not exhibit significant retinal architecture alterations photoreceptors, deletion miR-183 and miR-96 gives rise to severe defects cone maturation. Long-term follow-up analysis reveals that miR-183/96 ablation results progressive photoreceptor degeneration. Mechanistic studies demonstrate...
Familial exudative vitreoretinopathy (FEVR) is a severe hereditary retinal disorder characterized by defects in vascular development. To date, six genes have been reported to be responsible for this disease, including LRP5, FZD4, TSPAN12, NDP, ZNF408, and KIF11. The purpose of our study was investigate the genetic Chinese patients with FEVR through mutational analyses 31 pedigrees.Clinical data peripheral blood were collected from pedigrees FEVR. All coding sequences intron/exon junctions...
Purpose: High myopia (HM) is defined as a refractive error worse than −6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM establish biological link between traits genetic deficiencies. Methods: A cross-sectional involving 731 participants varying in error, axial length (AL), age, myopic retinopathy, visual impairment. The were analyzed by four ophthalmologists while mutational screening was performed eight autosomal causative genes. Finally,...
Abstract Mammalian oocytes spend most of their life in a unique state cell cycle arrest at meiotic prophase I, during which time they are exposed to countless DNA-damaging events. Recent studies have shown that DNA double-strand break repair occurs predominantly via the homologous recombination (HR) pathway small non-growing meiotically arrested (primordial follicle stage). However, mechanisms employed by fully grown (GV-stage) not been studied detail. Here we established conditional...
Abstract Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision the first 2 decades of life. The condition has genetic basis due to mutation ABCA4 gene, and arises from deposition lipofuscin-like substance retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe clinical features patients four unrelated Chinese cohorts. targeted exome...
Abstract Adenosine diphosphate (ADP)‐ribosylation factor‐like 2 (ARL2) protein participates in a broad range of cellular processes and acts as mediator for mutant ARL2BP cilium‐associated retinitis pigmentosa HRG4 mitochondria‐related photoreceptor degeneration. However, ARL2 has not been linked to any human disease so far. Here, we identified de novo variant (c.44G > T, p.R15L) Chinese pedigree with MRCS (microcornea, rod‐cone dystrophy, cataract, posterior staphyloma) syndrome through...
Abstract Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It caused mutations in ubiquitously expressed CHM gene, which lead to absence Rab escort protein 1 (REP-1), resulting prenylation deficiency. Typical fundus appearances for choroideremia were found 3 probands from three unrelated Chinese families our study. We firstly used targeted exome sequencing (TES) technology...
Macular degeneration is the leading cause of blindness worldwide. In this study, we aimed to define a new subtype macular-retinal dystrophy and its genetic predisposition in 5 families.Exome sequencing was performed determine putative disease-causing genes patients with inherited macular disorders confirmed through comprehensive ophthalmic examinations. To validate functional consequence, adeno-associated virus-mediated mutant gene delivered into murine retina, both structural tests were...
Objective To identify the pathogenic mutation in a patient with Oguchi disease. Methods A Japanese disease was enrolled this study, and underwent comprehensive medical history assessment multiple ophthalmic examinations, including BCVA, OCT, color fundus photography full field electroretinogram. Genomic deoxyribonucleic acid (DNA) extracted from peripheral blood samples for whole exome sequencing. The gene detected, analysis software used to determine conservation of possible...