A5101929863- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- melanin and skin pigmentation
- Cancer-related molecular mechanisms research
- Connexins and lens biology
- Head and Neck Anomalies
- Ear Surgery and Otitis Media
- Biochemical Analysis and Sensing Techniques
- Developmental Biology and Gene Regulation
- Ion channel regulation and function
- Vestibular and auditory disorders
- Salivary Gland Tumors Diagnosis and Treatment
- Cell Adhesion Molecules Research
- Atherosclerosis and Cardiovascular Diseases
- Nasal Surgery and Airway Studies
- Tracheal and airway disorders
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- RNA and protein synthesis mechanisms
- Connective tissue disorders research
- Retinal Development and Disorders
- Regional Development and Environment
- Hormonal Regulation and Hypertension
- Myasthenia Gravis and Thymoma
- Cellular transport and secretion
- Congenital Ear and Nasal Anomalies
Chinese University of Hong Kong
2023-2025
Xiangya Hospital Central South University
2015-2024
Central South University
2015-2024
Hunan Provincial Center for Disease Control and Prevention
2024
Changsha Central Hospital
2021
University of South China
2021
Hunan University
2011
Autosomal recessive non-syndromic hearing loss (ARNSHL) is an extremely genetic heterogeneous disease with more than seventy pathogenic genes. However, most ARNSHL families are small-sized pedigrees limited information, challenging the molecular diagnosis for these patients. Therefore, we attempted to establish a strategy identifying causing variants by applying proband-based whole exome sequencing (proband-WES). Besides wishing improve diagnostic rates, also expected search novel deafness...
Significance Auditory neuropathy spectrum disorder (ANSD) is a confounding auditory disease in which the subjects respond to sound but have difficulties speech discrimination. Herein, we examined two Asian families with hereditary late-age–onset ANSD. By linkage analysis and exome sequencing, identified TMEM43-p.(Arg372Ter) variant as etiology of disease. To examine mechanism TMEM43 on ANSD, generated knock-in mouse p.(Arg372Ter) that recapitulated progressive hearing loss phenotype...
Peripheral arterial disease (PAD) is one of the leading causes cardiovascular morbidity and mortality worldwide, yet current trials on therapeutic angiogenesis remain suboptimal. Type 2 immunity critical for post-ischemic regeneration, but its regulatory role in revascularization poorly characterized. Here, we show that type cytokines, interleukin-4 (IL-4) interleukin-13 (IL-13), are key mediators angiogenesis. IL-4/IL-13-deficient mice exhibit impaired reperfusion muscle repair an...
Cardiovascular disease (CVD) is the leading cause of mortality among postmenopausal women, with atherosclerosis being a major underlying factor. Endothelial dysfunction, key initiating event in atherosclerosis, can be triggered by hormonal and metabolic changes. While estrogen deficiency has been linked to increased cardiovascular risk, molecular mechanisms which it exacerbates endothelial particularly presence elevated glucocorticoid levels, remain poorly understood. This study aims explore...
Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner ear malformations and accounts for 1–12% sensorineural deafness in children adolescents. Multiple genetic defects contribute to EVA; therefore, early molecular diagnosis critical EVA patients ensure that effective treatment strategies are employed. This study explored a new method applied it clinic diagnoses patients. Using next-generation sequencing technology, we set up multiple polymerase chain reaction...
MITF mutations results in an abnormal melanocyte development and lead to Waardenburg syndrome type 2 (WS2). Here, we analyzed the vitro activities of two recently identified WS2‐associated (p.R217I p.T192fsX18). The R217I retained partial activity, normal DNA‐binding ability nuclear distribution, whereas T192fsX18 failed activate TYR promoter showed aberrant subcellular localization which may be caused by deletion signal (NLS) at aa 213–218 (ERRRRF). These suggest that haploinsufficiency...
TYR, DCT and MITF are three important genes involved in maintaining the mature phenotype producing melanin; they therefore participate neural crest cell development into melanocytes. Previous studies have revealed that Wnt signaling factor lymphoid enhancer-binding (LEF-1) can enhance gene expression. However, whether LEF-1 also affects TYR expression remains unclear. In present study, we found regulated transcription vitro. overexpression increased promoter activity, whereas knockdown by...
Current treatments are inadequate in alleviating obesity-associated vascular diseases. The development of effective therapies to ameliorate endothelial dysfunction and attenuate oxidative stress is utmost importance. Asperuloside (ASP), a bioactive compound extracted from
Endothelial dysfunction occurs prior to atherosclerosis, which is an independent predictor of cardiovascular diseases (CVDs). Diabetes mellitus impairs endothelial function by triggering oxidative stress and inflammation in vascular tissues. Isoliquiritigenin (ISL), one the major bioactive ingredients extracted from licorice, has been reported inhibit stress. However, therapeutic effects ISL on ameliorating type 2 diabetes (T2D)-associated remain unknown. In our animal study, db/db male mice...
Background and Aims: Hypercholesterolemia leads to cardiovascular diseases atherosclerosis. Previous studies have highlighted the crucial role of gut microbiota in alleviating atherosclerosis progression reducing plasma cholesterol. However, protective effects Houttuynia cordata Thunb (HCT), a well-known fishy Chinese herb, against hypercholesterolemia vasculopathy remain largely unknown. This study aims explore HCT extracts on vascular health golden Syrian hamsters with...
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees sensorineural deafness and pigmentary abnormalities affecting skin, hair eye. The four subtypes WS were defined on basis presence or absence additional symptoms. Mutation human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at stop codon MITF (p.X420Y) in Chinese WS2 patient. This resulted...
X-linked hearing impairment is the rarest form of genetic loss (HL) and represents only a minor fraction all cases. The aim this study was to investigate cause inherited sensorineural HL in four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) SMPX identified by whole-exome sequencing. frameshift mutation predicted result premature truncation protein co-segregated with phenotype absent 295 normal controls. Subpopulation screening coding exons flanking...
Objective The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and elucidate contribution genes on array development both nonsyndromic syndromic sensorineural hearing loss in China. Methods We developed detect 240 mutations underlying loss. then used for analysis 382 patients with (including 15 enlarged vestibular aqueduct syndrome), 21 Waardenburg syndrome, 60 unrelated controls. Subsequently, we analyzed sensitivity, specificity, reproducibility new approach...
Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be underlying mechanism for WS2. However, mechanisms explaining genotypic phenotypic variations WS2 caused by MITF mutations are unclear. A previous study revealed that interacts LEF-1, important Wnt signaling pathway,...