A5013201133- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Ear Surgery and Otitis Media
- Hearing Loss and Rehabilitation
- RNA regulation and disease
- Connexins and lens biology
- RNA and protein synthesis mechanisms
- Neurofibromatosis and Schwannoma Cases
- Retinal Development and Disorders
- Neuroscience of respiration and sleep
- Meningioma and schwannoma management
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Bat Biology and Ecology Studies
- Sinusitis and nasal conditions
- Cancer-related molecular mechanisms research
- Congenital heart defects research
- Mitochondrial Function and Pathology
- Cytomegalovirus and herpesvirus research
- Nicotinic Acetylcholine Receptors Study
- Biochemical Analysis and Sensing Techniques
- Adenosine and Purinergic Signaling
- Noise Effects and Management
- Cell Adhesion Molecules Research
- Cancer Mechanisms and Therapy
Jiangxi University of Traditional Chinese Medicine
2025
University of Miami
2015-2024
Dr. John T. Macdonald Foundation
2019
Miami Heart Research Institute
2012-2013
Second Xiangya Hospital of Central South University
2012
Central South University
2012
Chinese PLA General Hospital
2010
Cincinnati Children's Hospital Medical Center
2009
University of Michigan–Ann Arbor
1994-2003
Loyola University Chicago
2003
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps the long arm of human chromosome 1q41 between markers AFM268ZD1 AFM144XF2. Three biologically important mutations in patients were identified a gene ( USH2A ) isolated from this critical region. The encodes protein with predicted size 171.5 kilodaltons that has laminin epidermal growth factor fibronectin III motifs;...
Prestin, a membrane protein that is highly and almost exclusively expressed in the outer hair cells (OHCs) of cochlea, motor which senses potential drives rapid length changes OHCs. Surprisingly, prestin member gene family, solute carrier (SLC) family 26, encodes anion transporters related proteins. Of nine known human genes this three (SLC26A2, SLC26A3 SLC26A4) are associated with different hereditary diseases. The restricted expression OHCs, its proposed function as mechanical amplifier,...
Age-related hearing loss and noise-induced are major causes of human morbidity. Here we used genetics functional studies to show that a shared cause these disorders may be function the ATP-gated P2X(2) receptor (ligand-gated ion channel, purinergic 2) is expressed in sensory supporting cells cochlea. Genomic analysis dominantly inherited, progressive sensorineural DFNA41 six-generation kindred revealed rare heterozygous allele, P2RX2 c.178G > T (p.V60L), at chr12:133,196,029, which...
Hearing loss is the most common sensory deficit in humans. We show that a point mutation DCDC2 (DCDC2a), member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 Tunisian family. Using immunofluorescence on rat inner ear neuroepithelia, DCDC2a was found to localize kinocilia hair cells and primary cilia nonsensory supporting cells. fluorescence distributed along length kinocilium with increased density toward tip. DCDC2a-GFP overexpression...
Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness both mice humans. Here, we provide evidence that mutations at these two loci can interact to hearing loss digenic heterozygotes of species. Using a classical genetic approach, generated were heterozygous Cdh23 Pcdh15 on uniform C57BL/6J background. Significant levels detected when compared age-matched single animals or normal controls. Cytoarchitectural defects the cochlea heterozygotes, including degeneration...
The genes of the renin-angiotensin system have been subjected to intense molecular scrutiny in cardiovascular disease studies, but their contribution risk is still uncertain. In this study, we sampled 192 African American and 153 European families (602 608 individuals, respectively) evaluate variations that encode components susceptibility hypertension. We genotyped 25 single-nucleotide polymorphisms ACE , AGT AGTR1 REN . family-based transmission/disequilibrium test was performed with each...
Association studies of candidate genes with complex traits have generally used one or a few single nucleotide polymorphisms (SNPs), although variation in the extent linkage disequilibrium (LD) within markedly influences sensitivity and precision association studies. The LD underlying haplotype structure for most are still unavailable. We sampled 193 blacks (African-Americans) 160 whites (European-Americans) estimated intragenic four renin–angiotensin system. genotyped 25 SNPs, all but pairs...
A proposed mechanism for presbycusis is a significant increase in oxidative stress the cochlea. The enzymes glutathione S-transferase (GST) and N-acetyltransferase (NAT) are two classes of antioxidant active In this work, we sought to investigate association different polymorphisms GSTM1, GSTT1, NAT2 analyze whether ethnicity has an effect genotype-phenotype associations.Case-control study 134 DNA samples.University-based tertiary care center.Clinical, audiometric, testing 55 adults with 79...