A5101795062- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Ocular Disorders and Treatments
- RNA regulation and disease
- Thyroid Cancer Diagnosis and Treatment
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Cell Adhesion Molecules Research
- Head and Neck Cancer Studies
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- melanin and skin pigmentation
- Cancer, Hypoxia, and Metabolism
- Connexins and lens biology
- Hedgehog Signaling Pathway Studies
- Thyroid and Parathyroid Surgery
- Retinal and Macular Surgery
- Amino Acid Enzymes and Metabolism
- Lung Cancer Research Studies
- Postharvest Quality and Shelf Life Management
- Congenital gastrointestinal and neural anomalies
- Drug-Induced Ocular Toxicity
Fifth Hospital In Wuhan
2025
Wuhan University
2025
Hubei University
2025
Ningbo No. 2 Hospital
2024
Capital Medical University
2016-2024
Beijing Tongren Hospital
2016-2024
Shandong University of Technology
2024
Chongqing University
2020-2024
Chongqing Cancer Hospital
2020-2024
Beijing Children’s Hospital
2024
Purpose: Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific can result autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), retinitis pigmentosa. The objective of this study was to determine mutation detection rate spectrum a cohort Chinese patients with STGD1 CRD describe clinical features mutations. Methods: A total 161 probands were recruited for genetic analysis; these included 96 diagnosed 65 individuals CRD. All underwent ophthalmic...
Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives this study were determine the mutation spectrum in cohort Chinese patients with USH describe clinical features mutations.A total 119 probands who clinically diagnosed recruited for genetic analysis. All underwent ophthalmic examinations. A combination molecular screening methods, including targeted next-generation sequencing, Sanger-DNA multiplex ligation probe amplification...
Leber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically genetically heterogeneous inherited disorders that cause visual impairment in children. The objective of this study was to describe the mutation profile phenotypic characteristics Chinese patients with LCA or EOSRD.Retrospective consecutive case series (2010-2017) performed 148 probands (91 57 EOSRD). All underwent ophthalmic evaluation. Mutations were revealed using targeted next-generation...
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% RP transmitted as an autosomal dominant (ad) trait. The objectives this study were to establish variant profile in a large cohort adRP families elucidate spectrum each gene Chinese patients. A total 138 probands clinically diagnosed with presumed trait recruited. All underwent ophthalmic examinations by specialists. combination molecular screening methods, including targeted next-generation...
Sector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants the retina are involved. The objectives this study were to report results a molecular screening five unrelated Chinese patients with sector and describe clinical features observed RHO mutations. Five probands that clinically diagnosed recruited for genetic analysis. They underwent ophthalmic examinations, including best corrected visual acuity, fundus examination, field electroretinography. A...
To identify the missing heritability of ABCA4-related retinopathy in a Chinese cohort.We recruited 33 unrelated patients with carrying monoallelic variant ABCA4. All underwent ophthalmic examinations. Next-generation sequencing whole ABCA4 sequence, including coding and noncoding regions, was performed to detect deep intronic variants (DIVs) copy number variations (CNVs).We identified eight pathogenic 60.6% (20/33), which comprised five DIVs three CNVs. The DIVs, four novel (c.1555-816T>G,...
Purpose: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical genetic features. Methods: We recruited 24 unrelated suspected WFS1 who carried at least one variant WFS1. All underwent ophthalmic examinations comprehensive molecular analyses, including Sanger-DNA sequencing next-generation whole sequence. Results: identified 38 distinct pathogenic variants probands, comprising 23 biallelic patient monoallelic variant....
Background: Lactate dehydrogenase (LDH) is a known prognostic biomarker for the endemic variant of nasopharyngeal carcinoma (NPC). Here, we investigate whether serial changes in LDH level between chemotherapy (CT) cycles are associated with tumour response to CT. Methods: Patients biopsy-proven, recurrent or treatment-naïve metastatic NPC (mNPC) were recruited. All patients had received at least two platinum-based doublet triplet CT, assessment prior every cycle (CT1–6). harbouring...
Data on pyogenic liver abscess (PLA) of children in China have been limited. We aimed to summarize the clinical feather, microbiological characteristics, management, and outcome PLA children.
Background: Ethambutol-induced optic neuropathy (EON) is a well-recognized ocular complication in patients who take ethambutol as tuberculosis treatment. The aim of the current study was to investigate presence mitochondrial mutations, including OPA1 and Leber's hereditary (LHON)-mitochondrial DNA (mtDNA), with EON determine their effect on clinical features these patients. Methods: All 47 underwent evaluations, best-corrected visual acuity, fundus examination, color photography; 37 were...
Mutations of the OPA1 gene are responsible for over 70% autosomal dominant optic atrophy patients. Peripheral blood mononuclear cells (PBMCs) were isolated from a 27–year-old patient with heterozygous c.2708_2711delTTAG mutation in gene. PBMCs reprogrammed into induced pluripotent stem cell (iPSC) line episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 and hL-MYC. The established iPSC had normal karyotype, expressed markers, was capable to differentiate three germ layers vivo.
Purpose Ocular albinism type I (OA1) is caused by mutations in the GPR143 gene. The purpose of this study was to describe clinical and genetic findings 13 patients from 12 unrelated Chinese pedigrees with a pathogenic variant gene.Methods Most underwent examination, including best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus spectral domain optical coherence tomography, full-field electroretinograms (ERG). A combination molecular screening procedures, consisting Sanger-DNA...