Research Topics
Genomes and Genes | Richard J SmithSummaryAffiliation: University of Iowa Country: USA Publications
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Publications
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichmentA Eliot Shearer
Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
BMC Genomics 13:618. 2012..Our overall goal was to maximize cost reduction and minimize experimental time while maintaining a high percentage of reads on target and a high depth of coverage at thresholds required for variant detection...- Solution-based targeted genomic enrichment for precious DNA samplesAiden Eliot Shearer
Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
BMC Biotechnol 12:20. 2012..These protocols could be improved by: 1) modifying or eliminating time consuming steps; 2) increasing yield to reduce input DNA and excessive PCR cycling; and 3) enhancing reproducible... - Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypesKatherine R Smith
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
Genome Biol 12:R85. 2011..We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses... - Causes of alternative pathway dysregulation in dense deposit diseaseYuzhou Zhang
Department of Otolaryngology Head and Neck Surgery, Caver College of Medicine, University of Iowa, 5270 CBRB Building, Iowa City, IA 52242, USA
Clin J Am Soc Nephrol 7:265-74. 2012..This study was designed to investigate the causes of alternative pathway dysregulation in a cohort of patients with dense deposit disease (DDD)... 
Comparative linkage analysis and visualization of high-density oligonucleotide SNP array dataIgor Leykin
Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
BMC Genet 6:7. 2005..For example, the haplotyping results are commonly represented in the text format...
Making sense of nonsyndromic deafnessRichard J H Smith
Department of Otolaryngology, 200 Hawkins Dr, University of Iowa, Iowa City, IA 52242, USA
Arch Otolaryngol Head Neck Surg 129:405-6. 2003- Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndromeJames T Brookes
Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada
Int J Pediatr Otorhinolaryngol 72:121-6. 2008..Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss... - Genetic screening for deafnessRichard J H Smith
Department of Otolaryngology, Molecular Otolaryngology Research Labs, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Pediatr Clin North Am 50:315-29. 2003.... - New approaches to the treatment of dense deposit diseaseRichard J H Smith
Department of Internal Medicine and Otolaryngology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
J Am Soc Nephrol 18:2447-56. 2007..As the understanding of DDD increases, novel therapies should be integrated into existing protocols for DDD and evaluated using an open-label Bayesian study design... - Clinical application of genetic testing for deafnessRichard J H Smith
Interdepartmental Genetics Program and Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 130:8-12. 2004..In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed... - Lymphatic malformationsRichard J H Smith
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA
Lymphat Res Biol 2:25-31. 2004..In this article, the embryology of the lymphatic system is reviewed, and the classification of lymphatic malformations and their natural history and treatment are discussed... - Sensorineural hearing loss in childrenRichard J H Smith
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA
Lancet 365:879-90. 2005.... - Branchio-oto-renal syndromeR J Smith
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
J Commun Disord 31:411-20; quiz 421. 1998..The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene... - Dense deposit diseaseRichard J H Smith
Department of Internal Medicine, Division of Nephrology, Carver College of Medicine, University of Iowa, 21151 PFP, 200 Hawkins Drive, Iowa City, IA 52242, USA
Mol Immunol 48:1604-10. 2011..As advances are made in these areas, there will be a need to increase healthcare provider awareness of DDD by making resources available to clinicians to optimize care for DDD patients... - Cloning genes for non-syndromal hearing impairmentR J Smith
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City 52242, USA
Br J Audiol 33:271-8. 1999..This paper focuses on four general approaches: functional cloning, positional cloning, position-dependent candidate gene cloning, and position-independent candidate gene cloning... - Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafnessRichard J H Smith
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
J Commun Disord 35:367-77. 2002..In addition, the unique aspects of genetic counseling for deafness and recurrence chance estimates are explained... 
Efficacy and safety of OK-432 immunotherapy of lymphatic malformationsMark C Smith
Division of Otolaryngology Head and Neck Surgery, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA
Laryngoscope 119:107-15. 2009..To determine the efficacy and safety of the immunostimulant OK-432 (Picibanil) as a treatment option in the management of children with cervicofacial lymphatic malformations...- Deafness: from bedside to bench and backRichard J H Smith
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA
Lancet 360:656-7. 2002 - Non-syndromic hearing impairment: gene linkage and cloningR J Smith
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
Int J Pediatr Otorhinolaryngol 49:S159-63. 1999..A number of the relevant genes have been cloned. These advances are impacting clinical practice and revolutionizing our understanding of the biology of hearing... - Sensorineural deafness and male infertility: a contiguous gene deletion syndromeYuzhou Zhang
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52240, USA
J Med Genet 44:233-40. 2007..Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3... - Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locusNicole C Meyer
Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Am J Med Genet A 143:1623-9. 2007..The truncating nature of these mutations is consistent with loss-of-function, and therefore the existing TECTA knockout mouse mutant represents a good model in which to study DFNB21-related deafness... - Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4Anand N Mhatre
Laboratory of Molecular Genetics, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, San Francisco, California, USA
J Neurosci Res 75:25-31. 2004.... - Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)Tao Yang
Department of Otolaryngology Head and Neck, University of Iowa, Iowa City, IA 52242, USA
Am J Hum Genet 80:1055-63. 2007..These results support a novel dosage-dependent model for the molecular pathogenesis of PS and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery... - GJB2: the spectrum of deafness-causing allele variants and their phenotypeHela Azaiez
Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Hum Mutat 24:305-11. 2004..35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants... - Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing lossA Eliot Shearer
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Laryngoscope 119:727-33. 2009..To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families... - Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsSai Prasad
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Am J Med Genet A 124:1-9. 2004..We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4... - Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1Michael S Hildebrand
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
Am J Med Genet A 146:2258-65. 2008..R859Q) was identified in the C-terminal domain of the wolframin protein where most LFSNHL-causing mutations cluster. The family member with GD also carried polymorphisms in WFS1 that have been associated with other autoimmune diseases... - Recurrent respiratory papillomatosis: pathogenesis to treatmentJohn H Lee
Department of Otolaryngology Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Curr Opin Otolaryngol Head Neck Surg 13:354-9. 2005..The goals of this review are to update physicians on current understandings regarding viral pathogenesis, patient risks, and current trends in treatment strategies... - Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafnessAbram P Vore
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, The University of Iowa, Iowa City 52242, USA
Arch Otolaryngol Head Neck Surg 131:1057-63. 2005..Affected males can also present with vestibular dysfunction that is associated with delayed developmental motor milestones. Intrafamilial variability occurs... - Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locusMichael S Hildebrand
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Genet Med 10:797-804. 2008..To address this challenge, we have developed a machine learning-based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based on audioprofiling... - Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findingsGeetika Khanna
Department of Radiology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
Radiographics 26:157-71. 2006.... - miRNA mutations are not a common cause of deafnessMichael S Hildebrand
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 152:646-52. 2010..These results suggest that mutations disrupting gene regulation by the miR-183 cluster are not a common cause of human hearing loss... - Mentoring in otolaryngology training programsRichard K Gurgel
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Otolaryngol Head Neck Surg 142:487-92. 2010..It is unknown how otolaryngology training programs mentor residents. Our objective was to determine the current state of mentoring in otolaryngology training programs and describe resident perceptions of mentoring... - Gene expression profiling analysis of the inner earMichael S Hildebrand
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Hear Res 225:1-10. 2007..This approach also provides a framework to assist and direct the functional characterization of gene products... - Pediatric otolaryngologists' use of genetic testingRyan D Duncan
Department of Surgery, University of Alabama at Birmingham, USA
Arch Otolaryngol Head Neck Surg 133:231-6. 2007..To assess the use of genetic testing by pediatric otolaryngologists in evaluating a child with prelingual sensorineural hearing impairment (SNHI)... - Genotype-phenotype correlations for SLC26A4-related deafnessHela Azaiez
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242, USA
Hum Genet 122:451-7. 2007..For all patients, variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of the PS-Mondini-EVA disease spectrum... - Molecular characterization of a novel X-linked syndrome involving developmental delay and deafnessMichael S Hildebrand
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 143:2564-75. 2007..Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates... - Advances in molecular and cellular therapies for hearing lossMichael S Hildebrand
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Mol Ther 16:224-36. 2008..We explore the advantages and limitations associated with the use of these strategies for inner ear restoration... - A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degenerationGregory S Hageman
Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, University of Iowa, Iowa City, IA 52240, USA
Proc Natl Acad Sci U S A 102:7227-32. 2005..We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population... - A novel splice site mutation in EYA4 causes DFNA10 hearing lossMichael S Hildebrand
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 143:1599-604. 2007..Detailed clinical investigation showed differences in the onset and severity of his hearing loss and thus he is presumed to represent a phenocopy, perhaps resulting from long-term exposure to loud noise... - Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trialChantal M Giguere
Department of Otolaryngology, The University of Iowa, Iowa City 52242, USA
Arch Otolaryngol Head Neck Surg 128:1137-44. 2002..To describe and to determine the robustness of our study evaluating the efficacy of OK-432 (Picibanil) as a therapeutic modality for lymphangiomas... - Current treatment paradigms in the management of lymphatic malformationsJohn P Renton
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
Laryngoscope 121:56-9. 2011..The development of treatments that are effective for all types of LMs will require further understanding of lymphangiogenesis and the pathogenesis of LMs... - Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndromeTara K Maga
Interdepartmental PhD Program in Genetics, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Hum Mutat 31:E1445-60. 2010..Twelve percent (12%) of patients carrying disease-associated genetic variants segregated mutations in more than one gene mandating comprehensive genetic testing in the diagnosis and management of these patients... - The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear developmentKatherine J D A Excoffon
Department of Internal Medicine, Division of Pulmonary Medicine, University of Iowa, 440 EMRB, Iowa City, IA 52242, USA
Hear Res 215:1-9. 2006.... - Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouseHana Odeh
Department of Otolaryngology, Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, MI 48109, USA
Am J Hum Genet 86:148-60. 2010..Our results suggest that deafness in pirouette mutants is associated with loss of GRXCR1 function in modulating actin cytoskeletal architecture in the developing stereocilia of sensory hair cells... - In vitro and in vivo suppression of GJB2 expression by RNA interferenceYukihide Maeda
Molecular Otolaryngology Research Laboratory, Department of Otolaryngology Head and Neck Surgery, Interdepartmental Ph D Genetics Program, The University of Iowa, 200 Hawkins Drive 21151 PFP, Iowa City, IA 52242, USA
Hum Mol Genet 14:1641-50. 2005..Our data show that RNAi can be used with specificity and efficiency in vivo to protect against hearing loss caused as a dominant-negative consequence of mutant gene expression... - Clinical presentation of DFNB1Wyman T McGuirt
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
Adv Otorhinolaryngol 61:113-9. 2002 - New treatment options for lymphangioma in infants and childrenChantal M Giguere
Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Ann Otol Rhinol Laryngol 111:1066-75. 2002..We provide a complete review of the diagnostic measures available and thoroughly discuss new therapeutic interventions proposed to treat lymphangiomas... - Refining the DFNB17 interval in consanguineous Indian familiesYingshi Guo
Center for Hearing and Deafness Research, Department of Otolaryngology, Cincinnati, Children s Hospital Cincinnati, OH, USA
Mol Biol Rep 31:97-105. 2004..Analysis of coding and splice site regions of these cochlear expressed genes did not reveal any disease causing mutations. Further study of other candidate genes is currently underway... - A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10Yuzhou Zhang
Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA 52242, USA
J Assoc Res Otolaryngol 5:295-304. 2004..These results are consistent with clinical data and implicate haploinsufficiency as the cause of BOR syndrome and DFNA10... - Performance of cochlear implant recipients with GJB2-related deafnessGlenn E Green
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet 109:167-70. 2002..Effective rehabilitation for profoundly deaf individuals with GJB2-related deafness is possible through cochlear implantation... - Genetic heterogeneity of deafness phenotypes linked to DFNA4Tao Yang
Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Am J Med Genet A 139:9-12. 2005..The newly defined candidate region encompasses a region of approximately 19 cM. Several candidate genes have been screened for disease-causing mutations... - SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BORAmit Kochhar
Doris Duke Clinical Research Fellowship, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Hum Mutat 29:565. 2008..Seven of the eight known SIX1 mutations are missense and the one in frame deletion is predicted to be functionally similar. The wide phenotypic variability precludes making genotype-phenotype correlations at this time... - Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)Jing Zheng
Department of Otolaryngology Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
Proc Natl Acad Sci U S A 108:4218-23. 2011..In aggregate, these data identify CEACAM16 as an α-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus... - A claudin-9-based ion permeability barrier is essential for hearingYoko Nakano
Department of Anatomy and Cell Biology, University of Iowa, Iowa City, Iowa, USA
PLoS Genet 5:e1000610. 2009..Thus, the analysis of claudin-9 mutant mice suggests that even the deeper (subapical) tight-junction strands have biologically important ion barrier function... - 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... - Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunitRick F Nelson
Medical Scientist Training Program, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa 52242, USA
J Neurosci 27:5163-71. 2007..Our findings demonstrate that components of protein quality control are essential for inner ear homeostasis and implicate Fbx2 and Skp1 as potential genetic modifiers in age-related hearing loss... - The effect of GJB2 allele variants on performance after cochlear implantationPaul W Bauer
Department of Otolaryngology Head and Neck Surgery, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9035, USA
Laryngoscope 113:2135-40. 2003..To test this hypothesis, the authors identified pediatric cochlear implant recipients with gap junction protein beta2 (GJB2)-related deafness. The study examines performance outcomes associated with GJB2 deafness-causing allele variants... - Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequencesEugene H Chang
Molecular Otolaryngology Research Labs, University of Iowa, Iowa City, Iowa 52242, USA
Hum Mutat 23:582-9. 2004..We conclude that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements... - The role of connexins in human diseaseEugene H Chang
Molecular Otolaryngology Research Laboratories, Dept of Otolaryngology, University of Iowa, USA
Ear Hear 24:314-23. 2003..This discovery has impacted medical practice and makes it incumbent on clinicians to familiarize themselves with the genetic advances that are rapidly occurring in our field... - Gene expression analysis of human otosclerotic stapedial footplatesMegan Ealy
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Pediatrics and Internal Medicine, Division of Nephrology, 200 Hawkins Drive 21151 PFP, University of Iowa, Iowa City, IA, USA
Hear Res 240:80-6. 2008..Functional analyses of genes from this study will enhance our understanding of the pathogenesis of this disease... - Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testingStephen W Hone
Department of Pediatric Otolaryngology/HNS, University of Iowa Hospitals and Clinics, 21201 PFP, 200 Hawkins Drive, Iowa City, IA 52242, USA
Otolaryngol Clin North Am 35:751-64. 2002..It is important to understand the implications and pitfalls of genetic testing. Genetic counseling is necessary... - Monitoring stress levels in postgraduate medical trainingJustin D Hill
Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242 1078, USA
Laryngoscope 119:75-8. 2009.... - Therapeutic regulation of gene expression in the inner ear using RNA interferenceYukihide Maeda
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, Iowa City, Iowa 52242 1009, USA
Adv Otorhinolaryngol 66:13-36. 2009..Transduction efficiency with cationic liposomes is low and the effect is transient; with adeno-associated and lentiviral vectors, long-term transfection is possible using a small hairpin RNA expression cassette... - The genetics of otosclerosisMegan Ealy
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
Hear Res 266:70-4. 2010..The goal of this paper is to review the genetics of otosclerosis and to provide insight into studies that could be performed to elucidate disease pathogenesis... - Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosisRichard D Wemer
Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Ann Otol Rhinol Laryngol 114:836-9. 2005.... - Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian populationColleen A Campbell
Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
Am J Med Genet A 152:67-74. 2010..Population stratification within our MD and Caucasian control population was excluded. Our data show that SNPs in KCNE1 and KCNE3 are not associated with MD in Caucasians... - Allelic variants of complement genes associated with dense deposit diseaseMaria Asuncion Abrera-Abeleda
Interdisciplinary PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA
J Am Soc Nephrol 22:1551-9. 2011..Alternative pathway activity was higher in the presence of variants associated with DDD. Taken together, these data confirm that DDD is a complex genetic disease and may provide targets for the development of disease-specific therapies... - A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndromeTara K Maga
Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
Nephrol Dial Transplant 26:739-41. 2011..Tests of AP function in this patient suggested additional genetic factors, and in-depth studies revealed a de novo heterozygous deletion that creates a novel CFH/CFHR1 fusion protein... - Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosisHina T Gupta
Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Laryngoscope 120:698-702. 2010..This study aims to explore the association between increasing degree of papilloma dysplasia and the use of cidofovir in the context of the natural progression of dysplasia in RRP... - Hearing loss in Union Army veterans from 1862 to 1920Ryan K Sewell
Department of Otolaryngology/Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242-1113, USA
Laryngoscope 114:2147-53. 2004..CONCLUSION: HL was a common disability among UA Civil War veterans, with noise exposure a likely etiology for the HL. The differing levels of compensation for HL may reflect differing perceptions on the incapacitating effects of HL... - RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explantsYukihide Maeda
Molecular Otolaryngology Research Laboratory, Department of Otolaryngology, The University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Neuroreport 16:361-5. 2005..Expression of these genes was detectable even after 96 h. These results suggest that it is feasible to test the expression of inner ear specific genes in explanted cochleae... - Branchio-oto-renal syndromeAmit Kochhar
Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
Am J Med Genet A 143:1671-8. 2007..Further evaluation of SIX1 and its related target genes may provide a better understanding of the pathophysiology of BOR syndrome and offer greater clues to the disease mechanisms... - Clinical aspects of hereditary hearing lossAmit Kochhar
Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
Genet Med 9:393-408. 2007..The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss... - GJB2 mutations: passage through IranHossein Najmabadi
Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran
Am J Med Genet A 133:132-7. 2005..Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe... - Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
Hum Genet 110:389-94. 2002..In contrast, 64% of the Wolfram syndrome mutations are inactivating. Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment... - Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan
National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
Hum Mutat 28:417-23. 2007..Further, high-resolution confocal microscopy in mouse inner ear demonstrates that radixin is expressed along the length of stereocilia of hair cells from both the organ of Corti and the vestibular system... - Hearing genes and cisplatin deafness: a pilot studyChristine Knoll
Division of Pediatric Hematology-Oncology, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599-7220, USA
Laryngoscope 116:72-4. 2006..35). CONCLUSIONS: It is not likely that any of the five hearing genes we examined contribute to cisplatin ototoxicity. Further study may be warranted to look at other hearing genes as possible predictors of cisplatin ototoxicity... - Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndromeAllan Vescan
Department of Otolaryngology, University of Western Ontario, London Health Sciences Centre
J Otolaryngol 31:54-7. 2002 - A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment familiesFatemeh Alasti
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Int J Pediatr Otorhinolaryngol 72:249-55. 2008..On the basis of the recognizable phenotype, we recommend mutation screening of TECTA in families with this hearing phenotype... - GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing lossHossein Najmabadi
Genetic Research Center, Welfare Science and Rehabilitation University, Tehran, Iran
Hum Mutat 19:572. 2002..Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran... - Searching for evidence of DFNB2Lisa M Astuto
Gene Marker Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
Am J Med Genet 109:291-7. 2002..These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss... - Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cellsLut Van Laer
Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610 Antwerp, Belgium
Neurobiol Dis 19:386-99. 2005..In contrast to the results obtained in Dfna5-/- zebrafish, we did not observe different UDP-glucose dehydrogenase and hyaluronic acid levels in Dfna5-/- mice when compared to Dfna5+/+ mice... - GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
Am J Hum Genet 77:945-57. 2005..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes... - A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell functionMartin Schwander
Department of Cell Biology, Institute for Childhood and Neglected Disease, The Scripps Research Institute, La Jolla, California 92037, USA
J Neurosci 27:2163-75. 2007.... - Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric diseaseKim Cryns
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hum Mutat 22:275-87. 2003..In this paper, we provide an overview of the currently known disease-causing and benign allele variants of WFS1 and propose a potential genotype-phenotype correlation for Wolfram syndrome and LFSNHI... - Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio del Castillo
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
Am J Hum Genet 73:1452-8. 2003..These results have important implications for the diagnosis and counseling of families with DFNB1 deafness... - GJB2 mutations in Baluchi populationAnoosh Naghavi
Research Center for Infectious Diseases and Tropical Medicine, Zahedan University of Medical Sciences, Zahedan 98135, Iran
J Genet 87:195-7. 2008 - DFNA10/EYA4--the clinical pictureEls M R De Leenheer
Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
Adv Otorhinolaryngol 61:73-8. 2002 - High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutationsAkemi Sugata
Okayama University Medical School, Department of Otolaryngology, Head and Neck Surgery, 2 5 1 Shikata cho, 700 8558 Okayama, Japan
Auris Nasus Larynx 29:231-9. 2002..This article describes a rapid and high-throughput screening procedure for the detection of one-base deletion/substitution in GJB2 with less invasive sampling procedure in the implication for the clinical application... - Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locusSadaf Naz
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA
Am J Hum Genet 71:632-6. 2002..TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene... - The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populationsMelissa Thys
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hum Mol Genet 16:2021-30. 2007.... - In reference to temporal bone imaging in GJB2 deafnessHela Azaiez
Laryngoscope 117:1127; author reply 1127-9. 2007 - A novel DFNA5 mutation does not cause hearing loss in an Iranian familyLut Van Laer
Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610, Antwerp, Belgium
J Hum Genet 52:549-52. 2007..This fact provides further support for the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation... - Characterisation of DRASIC in the mouse inner earMichael S Hildebrand
Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
Hear Res 190:149-60. 2004..The human homologue of ACCN3, acid-sensing ion channel 3, maps to the same chromosomal region as the autosomal recessive hearing loss locus DFNB13. However, we did not detect mutations in this gene in a family with DFNB13 hearing loss... - Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null miceJérôme Ruel
INSERM U 583, Institut des Neurosciences, Hopital Saint Eloi, 34091 Montpellier, France Université Montpellier 1, 34091 Montpellier, France
Am J Hum Genet 83:278-92. 2008..We conclude that deafness in Slc17a8-deficient mice is due to a specific defect of vesicular glutamate uptake and release and that VGLUT3 is essential for auditory coding at the IHC synapse...
Research Grants
- Membranoproliferative Glomerulonephritis WorkshopRichard Smith; Fiscal Year: 2004..abstract_text> ..
- Otosclerosis-A Molecular Genetic StudyRichard Smith; Fiscal Year: 2006....
- Autosomal Dominant Non-Syndromic Hearing LossRichard Smith; Fiscal Year: 2006..deletion of Coil 1a2 (Coil la2-/-and a second mutant that recapitulates the DFNA1 3 genotype (Coil 1a2 Arg549Cys);(4) To offer genetic counseling to select families with autosomal dominant non-syndromic hearing loss ..
- Hinxton Retreat Workshop on Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2006....
- Non-Syndromic Hearing Loss -- A Collaborative StudyRichard Smith; Fiscal Year: 2007....
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2007..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
- Autosomal Dominant Non-Syndromic Hearing LossRichard Smith; Fiscal Year: 2009..Completion of these specific aims will not only increase our understanding of the pathogenesis of deafness, but will be highly translational by targeting small families segregating ADNSHL. ..
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2009..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
- Non-Syndromic Hearing Loss -- A Collaborative StudyRichard Smith; Fiscal Year: 2009..To date 77 loci have been identified and 28 causally-related genes have been cloned. Studying these genes will increase our understanding of deafness, improve patient care, and ultimately lead to novel methods of treating ARNSD. ..
- Autosomal Dominant Non-Syndromic Hearing LossRichard J Smith; Fiscal Year: 2010..Completion of these specific aims will not only increase our understanding of the pathogenesis of deafness, but will be highly translational by targeting small families segregating ADNSHL. ..
- A Collaborative Study of Membranoproliferative Glomerulonephritis Type IIRichard J Smith; Fiscal Year: 2010..Specific Aim 3: To examine the hypothesis that exogenous murine Factor H (mFH) can rescue the MPGNII/DDD phenotype in the Factor H deficient mouse (C/ft-/-) ..
- NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYRichard Smith; Fiscal Year: 1999..Appropriate mouse mutants will be identified, permitting studies in development, gene-gene interactions, and ultimately, therapeutic intervention. ..
- AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSSRichard Smith; Fiscal Year: 2001..This knowledge will foster the development of studies in gene- gene interactions, gene environment interactions, and ultimately, therapeutic intervention to prevent progression of some forms of hearing impairment. ..
- NON-SYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYRichard Smith; Fiscal Year: 2003....
- Non-Syndromic Hearing Loss -- A Collaborative StudyRichard J Smith; Fiscal Year: 2010..To date 77 loci have been identified and 28 causally-related genes have been cloned. Studying these genes will increase our understanding of deafness, improve patient care, and ultimately lead to novel methods of treating ARNSD. ..