Research Topics
Genomes and Genes | Xue Z LiuSummaryAffiliation: University of Miami Country: USA Publications
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Publications
Cochlear implantation in individuals with Usher type 1 syndromeXue Z Liu
Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
Int J Pediatr Otorhinolaryngol 72:841-7. 2008..To analyze the occurrence of the Usher type 1 (USH1) gene mutations in cochlear implant recipients with deaf-blind Usher syndrome, and to assess the potential effect of these genes and other factors on the therapeutic outcome...- Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapyXue Zhong Liu
Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
Int J Audiol 52:23-8. 2013..The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function... 
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairmentPu Dai
Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
J Transl Med 7:26. 2009..Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups...
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafnessX Z Liu
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23298 0033, USA
Hum Mol Genet 10:2945-51. 2001..Cx43 must also play a critical role in the physiology of hearing, presumably by participating in the recycling of potassium to the cochlear endolymph...- Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Xue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 125:53-62. 2009..Together, our data indicate that a genetic interaction between these two connexin genes can lead to hearing loss... - Audiological and genetic features of the mtDNA mutationsX Z Liu
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Acta Otolaryngol 128:732-8. 2008.... - Ageing and hearing lossX Z Liu
Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
J Pathol 211:188-97. 2007.... - The prevalence of connexin 26 ( GJB2) mutations in the Chinese populationXue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, Florida 33136, USA
Hum Genet 111:394-7. 2002..The 235delC mutation, rather than 35delG, is the most common mutation found in the Chinese deaf population. Our data support the view that specific combinations of GJB2 mutation exist in different populations... - The clinical presentation of DFNB2Xue Zhong Liu
Department of Otolaryngology, University of Miami, Fla, USA
Adv Otorhinolaryngol 61:120-3. 2002 - Prestin, a cochlear motor protein, is defective in non-syndromic hearing lossXue Zhong Liu
Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
Hum Mol Genet 12:1155-62. 2003..Finally, the observation of this mutation only in the Caucasian probands indicated an association with a specific ethnic background. This study thereby reveals an essential function of prestin in human auditory processing... - Performance after cochlear implantation in DFNB1 patientsSarah S Connell
University of Miami Ear Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Otolaryngol Head Neck Surg 137:596-602. 2007..To evaluate the speech perception and language development with cochlear implants (CI) of DFNB1 children in comparison with non-DFNB1 deaf children... - Influence of DFNB1 status on expressive language in deaf children with cochlear implantsSimon I Angeli
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
Otol Neurotol 32:1437-43. 2011..The objective of this study was to compare the language growth of children with connexin-related deafness (DFNB1) who received cochlear implants versus the language growth of implanted children with non-DFNB1 deafness... - Coenzyme Q-10 treatment of patients with a 7445A--->G mitochondrial DNA mutation stops the progression of hearing lossSimon I Angeli
Department of Otolaryngology, University of Miami School of Medicine, Miami, FL 33101, USA
Acta Otolaryngol 125:510-2. 2005..One year after being diagnosed with mitochondrial hearing loss, the patient who refused CoQ10 treatment exhibited an 11-dB deterioration of his hearing thresholds. There were no side-effects related to treatment with CoQ10... - Cochlear implantation in common forms of genetic deafnessRichard J Vivero
Department of Otolaryngology, University of Miami Ear Institute, Miami, FL 33136, United States
Int J Pediatr Otorhinolaryngol 74:1107-12. 2010..In this review article, current knowledge of cochlear implants for hereditary hearing loss will be discussed with an emphasis on relevant clinical genotype-phenotype correlations... - Etiologic diagnosis of sensorineural hearing loss in adultsSimon I Angeli
Department of Otolaryngology, University of Miami School of Medicine, Florida 33101, USA
Otolaryngol Head Neck Surg 132:890-5. 2005..To determine the etiology of adult-onset sensorineural hearing loss... - Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noiseDenise Yan
Department of Otolaryngology, University of Miami School of Medicine, Miami, FL 33136
Proc Natl Acad Sci U S A 110:2228-33. 2013..V60L, noise exposure exacerbated high-frequency hearing loss in young adulthood. Our results suggest that P2X(2) function is required for life-long normal hearing and for protection from exposure to noise... - Genetics and pathological mechanisms of Usher syndromeDenise Yan
Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
J Hum Genet 55:327-35. 2010..Understanding the molecular basis of phenotypic variation and pathogenesis of USH is important toward discovery of new molecular targets for diagnosis, prevention and treatment of this debilitating disorder... - Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouseCong Tian
Department of Otolaryngology, Case Western Reserve University, Cleveland, OH 44106, USA
Brain Res 1328:57-70. 2010..The fact that Ush1c expression is much higher in the ear than in the eye suggests a different role for Ush1c in ear function than in the eye and may explain why Ush1c mutant mice do not recapitulate vision defects... - Cochlear molecules and hereditary deafnessDenise Yan
Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
Front Biosci 13:4972-83. 2008..Here, we review some of the major advances in our knowledge of auditory function within an evolving understanding of the structure and regulation of the machinery of hearing... - Audiological features of GJB2 (connexin 26) deafnessXue Zhong Liu
Department of Otolaryngology, University of Miami, Miami, Florida 33136, USA
Ear Hear 26:361-9. 2005.... - Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafnessXiao Mei Ouyang
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, FL 33136, USA
Hum Genet 111:26-30. 2002..None carried any mutations in these exons of USH1C. Our findings show that USH1C mutations can also cause non-syndromic deafness and that some harmonin isoforms are specifically required for inner ear function... - Analysis of miR-376 RNA cluster members in the mouse inner earDenise Yan
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Int J Exp Pathol 93:450-7. 2012..Only unedited pri-miR-376 RNAs were detected in the cochlea suggesting that the activity of PRPS1 in the inner ear may not be regulated through the editing of miR-376 cluster... - Antioxidant enzymes, presbycusis, and ethnic variabilityAnthony Bared
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Otolaryngol Head Neck Surg 143:263-8. 2010..In this work, we sought to investigate the association of different polymorphisms of GSTM1, GSTT1, and NAT2 and presbycusis and analyze whether ethnicity has an effect in the genotype-phenotype associations... - Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east AsiansDenise Yan
Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 114:44-50. 2003..Similarly, the finding that this mutation appears on a single haplotype provides no support for the possibility that recurrent mutation is the explanation for the high frequency of the allele... - The genetic bases for non-syndromic hearing loss among ChineseXiao Mei Ouyang
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
J Hum Genet 54:131-40. 2009..Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options... - A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing lossAsli Sirmaci
Dr John T Macdonald Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA
Am J Hum Genet 86:797-804. 2010..We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss... - Refinement of the DFNA41 locus and candidate genes analysisDenise Yan
Department of Otolaryngology D 48, University of Miami, Miami, FL 33136, USA
J Hum Genet 50:516-22. 2005..This study represents a significant refinement of the DFNA41 locus and should facilitate positional cloning of the disease gene... - Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueductSamuel Reyes
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
Otolaryngol Head Neck Surg 141:502-8. 2009..We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA)... - Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type IIDenise Yan
Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
J Hum Genet 54:732-8. 2009..2299delG/p.E767fs is indeed the most common USH2A mutation found in USH2 patients of European Caucasian background. Thus, if screening for mutations in USH2A is considered, it is reasonable to screen for the c.2299delG mutation first... - Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Philomena Mburu
MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK
Nat Genet 34:421-8. 2003..Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia... - Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansQing Yin Zheng
Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 14:103-11. 2005..Altogether, our data indicate that CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle... - Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22Ingrid Zwaenepoel
Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Paris Cedex 15, France
Proc Natl Acad Sci U S A 99:6240-5. 2002..We propose that otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells... - Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient populationXiao Mei Ouyang
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 116:292-9. 2005..The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes...
Research Grants
- Molecular Genetics of Non-Syndromic DeafnessXue Liu; Fiscal Year: 2009....
- Molecular Genetics of Non-Syndromic DeafnessXue Liu; Fiscal Year: 2005..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with non-syndromic deafness. ..
- SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESSXue Liu; Fiscal Year: 2002..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
- Molecular Genetics of Non-Syndromic DeafnessXue Z Liu; Fiscal Year: 2010....