A5056964299- Genetic and Kidney Cyst Diseases
- Retinal Development and Disorders
- Hedgehog Signaling Pathway Studies
- CRISPR and Genetic Engineering
- Retinopathy of Prematurity Studies
- Ocular Surface and Contact Lens
- Corneal Surgery and Treatments
- Genetic and rare skin diseases.
- Glaucoma and retinal disorders
- Fetal and Pediatric Neurological Disorders
- Neonatal Respiratory Health Research
- Ophthalmology and Visual Impairment Studies
- Cancer and Skin Lesions
- Renal and related cancers
- Amino Acid Enzymes and Metabolism
- Cellular transport and secretion
- Autoimmune Bullous Skin Diseases
- Virus-based gene therapy research
- Photoreceptor and optogenetics research
- Biomedical Research and Pathophysiology
- Cerebrospinal fluid and hydrocephalus
- Neurogenesis and neuroplasticity mechanisms
- Allergic Rhinitis and Sensitization
- Atherosclerosis and Cardiovascular Diseases
- Tissue Engineering and Regenerative Medicine
Vanderbilt University
2025
Shanghai University of Traditional Chinese Medicine
2025
Stanford University
2018-2025
Children's Hospital of Chongqing Medical University
2015-2024
Chongqing Medical University
2009-2024
Smith-Kettlewell Eye Research Institute
2024
China International Science and Technology Cooperation
2020
Bergen Catholic High School
2020
The Affiliated Yongchuan Hospital of Chongqing Medical University
2009
To identify the prevalence of dry eye in pediatric population with allergic conjunctivitis Southwest China.A single-centre, prospective, case-control study conducted between May 2015 and December included 40 children, 3-6 years age, seasonal (SAC) or perennial (PAC) age- gender-matched children undergoing medical healthy examination without history allergy as a control. A score system (DESS) was administered to both groups. Slit-lamp examinations including tear film break-up time (TFBUT)...
Abstract The development of transgenic mouse models that express genes interest in specific cell types has transformed our understanding basic biology and disease. However, generating these is time- resource-intensive. Here we describe a model system, SELective Expression Controlled Transduction In Vivo (SELECTIV), enables efficient expression transgenes by coupling adeno-associated virus (AAV) vectors with Cre-inducible overexpression the multi-serotype AAV receptor, AAVR. We demonstrate...
Retinitis pigmentosa (RP) is a complex spectrum of inherited retinal diseases marked by the gradual loss photoreceptor cells, ultimately leading to blindness. Among these, mutations in PDE6A, responsible for encoding cGMP-specific phosphodiesterase, stand out as pivotal autosomal recessive RP (RP43). Unfortunately, no effective therapy currently exists this specific form RP. However, recent advancements genome editing, such base editing (BE) and prime (PE), offer promising avenue precise...
Lowe syndrome is a rare X-linked disease that characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral of (OCRL) gene are found patients. Although loss vision major concern for families physicians who take care children, definitive cause visual still unclear. Children usually present with bilateral dense at birth glaucoma, which occurs more than half cases, either concurrently or following cataract surgery.A retrospective...
Glaucoma is a group of progressive optic neuropathies that cause irreversible vision loss. Although elevated intraocular pressure (IOP) associated with the development and progression glaucoma, mechanisms for its regulation are not well understood. Here, we have designed CIBN/CRY2-based optogenetic constructs to study phosphoinositide within distinct subcellular compartments. We show stimulation CRY2-OCRL, an inositol 5-phosphatase, increases aqueous humor outflow lowers IOP in vivo, which...
Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease progressive blindness. The most frequent cause of juvenile mutation in the type 1 (NPHP1) gene. NPHP1 encodes protein nephrocystin-1, which functions at transition zone (TZ) primary cilia.We report 9-year-old boy deletion, who bilateral vision decrease cystic disease. Renal function deteriorated require nephrectomy transplant. We performed...
Objectives. Primary cilia are conserved organelles found in polarized mammalian cells that regulate neuronal growth, migration, and differentiation. Proper formation is essential during eye development. Our previous reports both amacrine retinal ganglion (RGCs) contain primary primate rodent retinas. However, whether present the inner retina of human organoids remains unknown. The purpose this study to characterize distribution embryonic stem cell (hESC-derived organoid Materials Methods....
Abstract Background Allergic diseases are associated with a higher risk of Tourette’s syndrome (TS). Provisional tic disorder (PTD) and eye blinking often reported as the initial symptoms both in TS allergic conjunctivitis (AC). Objective To investigate association between AC PTD children 4–10 years age southwest China. Methods This case–control study was carried out at Children’s Hospital Chongqing Medical University January 2016 June 2017. Age- gender-matched without were included control...
Abstract The mammalian visual system is composed of circuitry connecting sensory input from the retina to processing core cortex. two main retinorecipient brain targets, superior colliculus (SC) and dorsal lateral geniculate nucleus (dLGN), bridge retinal output. primary cilium a conserved organelle increasingly viewed as critical sensor for regulation developmental homeostatic pathways in most cell types. Moreover, cilia have been described crucial neurogenesis, neuronal maturation,...
Purpose: Primary cilia are conserved organelles found in polarized cells within the eye that regulate cell growth, migration, and differentiation. Although role of photoreceptors is well-studied, formation other retinal types has received little attention. In this study, we examined ciliary profile focused on inner nuclear layer retinas mice rhesus macaque primates. Methods: Retinal sections or flatmounts from Arl13b-Cetn2 tg transgenic were immunostained for markers (Pax6, Sox9, Chx10,...
Abstract Retinoblastoma (RB) is a pediatric malignancy, typically diagnosed at birth or during early childhood. The pathogenesis of RB marked by the amplification Basic Helix–Loop–Helix (BHLH) Transcription Factor MYCN, which serves as transcriptional regulator capable binding to Dickkopf 3 (DKK3). However, precise role DKK3 in malignant progression cells caused MYCN remains elusive. In present study, expression was either overexpressed interfered cells. Subsequently, level assessed through...
This study aimed to investigate the refractive status and optical components of premature babies with or without retinopathy prematurity (ROP) at 7 years old explore influence ROP on components.From January 2009 February 2011, receiving fundus photographic screening (FPS) were recruited divided into non-ROP group group. Full-term matched in age as controls. Auto-refractometer was employed detect corneal power, radius (CR) curvature astigmatism, A-scan ultrasonography performed anterior...
Purpose: Steroid-induced glaucoma is a common form of secondary open angle characterized by ocular hypertension (elevated intraocular pressure [IOP]) in response to prolonged glucocorticoid exposure. Elevated IOP occurs with increased outflow resistance and altered trabecular meshwork (TM) function. Recently, we used an optogenetic approach TM regulate the 5-phosphatase, OCRL, which contributes regulating PI(4,5)P2 levels. Here, applied this system aim reversing compromised function...
Abstract Loss of retinal ganglion cells (RGCs) underlies several forms disease including glaucomatous optic neuropathy, a leading cause irreversible blindness. Several rare genetic disorders associated with cilia dysfunction have degeneration as clinical hallmark. Much the focus ciliopathy blindness is on connecting cilium photoreceptors; however, RGCs also possess primary cilia. It unclear what roles RGC play, proteins and signaling machinery localize to cilia, or how are differentiated...
This study was aimed to investigate the characteristics of refractive parameters in premature infants and children aged 3-8 years with mild retinopathy prematurity (ROP) explore effects delivery ROP on development status ocular optical components. Premature who underwent fundus oculi screening our hospital between January 2009 February 2011 were included divided into group non-ROP group. Full-term controls. The results annual examination conducted 2014 2018 analysed, status, components,...
Background: Postoperative complications, lagophthalmos and exposure keratopathy sometimes occur after surgery for congenital blepharoptosis. Bandage contact lenses (BCL) can help prevent some ocular surface disorders. The study aims to evaluate the efficacy safety of BCL protection in children aged 5 11 years frontalis muscle flap suspension Methods: We conducted a prospective randomized clinical 30 eyes patients with blepharoptosis consecutively enrolled at Ophthalmology Ward Children's...
Lowe syndrome, a rare X-linked multisystem disorder presenting with major abnormalities in the eyes, kidneys, and central nervous system, is caused by mutations OCRL gene (NG_008638.1). Encoding an inositol polyphosphate 5-phosphatase, catalyzes hydrolysis of PI(4,5)P2 into PI4P. There are no effective targeted treatments for syndrome. Here, we demonstrate novel therapy syndrome patient fibroblasts using adenine base editor (ABE) that can efficiently correct pathogenic point mutations. We...
Retinitis pigmentosa (RP) is characterized by degeneration of rod and cone photoreceptors that progresses to irreversible blindness. Now, there are no mutation-agnostic approaches treat RP. Here, we utilized a single adeno-associated virus (AAV)–based CRISPR activation system activate phosphodiesterase 6B (Pde6b) mitigate the severe in Pde6a nmf363 mice. We demonstrate transcriptional Pde6b can rescue loss , with preservation retinal structure, restoration electroretinography responses,...
Abstract Primary cilia are conserved organelles that integrate extracellular cues into intracellular signals and critical for diverse processes, including cellular development repair responses. Deficits in ciliary function cause multisystemic human diseases known as ciliopathies. In the eye, atrophy of retinal pigment epithelium (RPE) is a common feature many However, roles RPE vivo remain poorly understood. this study, we first found mouse cells only transiently form primary cilia. We then...
Abstract Primary cilia are microtubule‐based sensory organelles that project from the apical surface of most mammalian cells, including oligodendrocytes, which myelinating cells central nervous system (CNS) support critical axonal function. Dysfunction CNS glia is associated with aging‐related white matter diseases and neurodegeneration, ciliopathies known to affect matter. To investigate age‐related changes in ciliary profile, we examined length frequency retinogeniculate pathway, a tract...