A5069185355- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Hearing Loss and Rehabilitation
- Connexins and lens biology
- Ear Surgery and Otitis Media
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- Head and Neck Anomalies
- RNA regulation and disease
- Tracheal and airway disorders
- Neuroscience of respiration and sleep
- Allergic Rhinitis and Sensitization
- Sinusitis and nasal conditions
- Nasal Surgery and Airway Studies
- RNA modifications and cancer
- Noise Effects and Management
- Vascular Malformations and Hemangiomas
- Myasthenia Gravis and Thymoma
- Salivary Gland Tumors Diagnosis and Treatment
- Medical Research and Practices
- Educational Reforms and Innovations
- Pluripotent Stem Cells Research
- Vascular Tumors and Angiosarcomas
- Congenital Ear and Nasal Anomalies
- Cardiac tumors and thrombi
Lanzhou University
2013-2025
Lanzhou University Second Hospital
2013-2025
Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural loss (NSHL) most types hereditary impairment. Genotypically phenotypically NSHL extremely heterogenous follow either autosomal dominant or recessive X-linked mode inheritance. Presently, 127 genes have been identified to be associated with both syndromic (NSHL). Here, we studied a family moderate profound The proband 30-year old man. was born normal at age 5-years,...
Hearing loss, a major public health issue, affects 1.33 per 1,000 live births worldwide. Genetic factors contribute to over half of congenital cases, with X-linked inheritance accounting for 1-5%. POU3F4 mutations are associated approximately 50% non-syndrome hearing loss cases. plays critical role in cochlear development by regulating otic mesenchyme cell differentiation. The study investigates the impact novel p.E294G mutation on structure and function using cellular animal model. utilized...
MYO15A is a commonly implicated gene in severe to profound sensorineural hearing loss. Numerous studies have identified mutations humans, analyzed their presence and co-segregation, predicted pathogenicity using software tools. However, few investigated the pathogenic mechanisms of these mouse models. In prior study, we c.2482 C > T mutation as potential causative for deafness Uygur family from Xinjiang. To further explore this mutation, constructed model harboring Myo15a c.2455A mutation....
We aimed to evaluate the genotype-phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA).
Defects in mitochondrial RNA metabolism have been linked to sensorineural deafness that often occurs as a consequence of damaged or deficient inner ear hair cells. In this report, we investigated the molecular mechanism underlying deafness-associated tRNAPhe 593T>C mutation changed highly conserved uracil cytosine at position 17 DHU-loop. The m.593T>C altered structure and function, including increased melting temperature, resistance S1 nuclease-mediated digestion conformational changes....
ABSTRACT Background MYO15A is one of the common genes severe‐to‐profound sensorineural deafness. Mutations in this gene can cause both pre‐ and post‐lingual hearing losses. In study, a novel variant (c.2482C>T) was identified to be associated with autosomal recessive non‐syndromic loss (ARNSHL) Chinese Uighur family. Methods To examine effects mutation on morphology function derived hair cell‐like cells, two iPSCs were generated separately from proband mutation‐negative family member...
To investigate the correlation between environmental-meteorological factors and daily visits for acute otitis media (AOM) in Lanzhou, China. Data were collected 2014–2016 by Departments of Otolaryngology-Head Neck Surgery at two hospitals Lanzhou. Relevant information, including age, sex visiting time, was collected. Environmental data included air quality index, PM10, PM2.5, O3, CO, NO2 SO2, meteorological average temperature (T, °C), mean atmospheric pressure (AP, hPa), relative humidity...
The ancient Silk Road (also called "Northwest Road") in Northwest China, starting from Xi'an, passes through Gansu, Xinjiang, Central Asia, West and the land passage connecting Mediterranean countries. aim of present study was to determine frequency mitochondrial DNA12SrRNA m.1555A>G mutation a total 2417 cases nonsyndromic deaf–mute patients representative general population Shaanxi, Qinghai, Ningxia, Xinjiang along Road. Enzyme digestion direct sequencing were applied identify sequence...
Conclusions: The GJB2 gene mutation characteristic of Dongxiang was the interaction result ethnic background and geographical environment, Yugur exhibited typical founder effect. SLC26A4 related to caucasian backgrounds selection purpose exons, i.e. penetrance specificity caused low mtDNA1555A>G frequency in Dongxiang. Objectives: To determine prevalence genes mutations analyze non-syndromic sensorineural hearing loss (NSHL) unique groups Gansu Province. Methods: Peripheral blood samples...
Background: The GJB2 gene is the most common deafness gene, and epidemic characteristics have obvious racial specificity. Our study aimed to investigate prevalence ethnic specificity of in major groups Northwest China, evaluate value molecular screening for minority populations, explore strategies methods genetic diagnosis. Methods: Ethics approval was obtained collect 1330 cases moderate very severe nonsyndromic sensorineural northwestern China. mutation minorities were analyzed compared...
Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair skin. It exhibits high phenotypic genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2.We recruited three-generation three affected members. Medical history was obtained from all members who underwent detailed physical examinations audiology tests. Genomic DNA extracted peripheral blood each individual, 139...
Usher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene.
Aminoacyl-tRNA synthetases are highly conserved proteins that catalyze the tRNA aminoacylation reaction to produce aminoacyl-tRNAs involved in protein synthesis, which required translate cytoplasmic and mitochondrial proteins. The mt-ARS genes encode aminoacyl-tRNA synthetase (mt-ARSs), variants affect synthesis. This can impair translation of proteins, adversely affecting oxidative phosphorylation leading related diseases. To date, 19 have been identified found be strongly associated with...
To investigate the consistency between hearing handicap inventory (HHI) and pure-tone audiometry (PTA) scores in assessing status to provide valuable insights for clinical application.
Retiform hemangioendothelioma (RH) is a rare intermediate (locally aggressive) vascular tumor that mostly affects the dermis of trunk and limbs, but has never been reported in inferior turbinate. A 10-year-old Chinese boy presented with recurrent epistaxis his left nasal cavity anemia for more than 2 years. Radiographic electronic video laryngoscopic images showed an expansile mass Endoscopic surgery electrocautery were performed to resect beyond macroscopic border. Histopathologically,...