Research Topics
Genomes and Genes | Konrad Noben-TrauthSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry diseaseKonrad Noben-Trauth
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20855, USA
Hear Res 234:10-4. 2007..The data demonstrate that in the mouse the loss of alpha-galactosidase A activity is genetically or biochemically buffered and not sufficient per se to cause an appreciable degree of hearing impairment...
Ectopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouseKonrad Noben-Trauth
Section on Neurogenetics, Laboratory of Molecular Biology, NIDCD, National Institutes of Health, Rockville, Maryland 20850, USA
J Biol Chem 286:3079-93. 2011....- Inheritance patterns of progressive hearing loss in laboratory strains of miceKonrad Noben-Trauth
Section on Neurogenetics, NIDCD, National Institutes of Health, 5 Research Court, Rockville, MD 20850 3227, USA
Brain Res 1277:42-51. 2009..Here we review hearing loss inheritance patterns as they were discovered in different strains of mice and discuss the relevance of candidate genes to late-onset progressive hearing impairment in mouse and human... 
The TRPML3 channel: from gene to functionKonrad Noben-Trauth
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, Rockville, MD 20850, USA
Adv Exp Med Biol 704:229-37. 2011..TRPML3 localizes to the plasmamembrane and to early- and late-endosomes as well as lysosomes. Recent advances suggest that TRPML3 may regulate the acidification of early endosomes, hence playing a critical role in the endocytic pathway...- Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of miceKonrad Noben-Trauth
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States of America
PLoS ONE 5:e11459. 2010..In summary, this study identifies a novel hearing loss locus on chromosome 10 and attests to the prevalence and genetic heterogeneity of progressive hearing loss in common mouse strains... - Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing lossKonrad Noben-Trauth
Section on Neurogenetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
Nat Genet 35:21-3. 2003..Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice... - Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) miceFederica Di Palma
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Proc Natl Acad Sci U S A 99:14994-9. 2002..Hence, we identify a molecular link between hair cell physiology and melanocyte function. Last, MCOLN2 and MCOLN3 are candidate genes for hereditary and/or sporadic forms of neurosensory disorders in humans... - Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired miceAgnieszka K Rzadzinska
Section on Structural Cell Biology, Laboratory of Cellular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
Hear Res 208:114-21. 2005.... - A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15Lori L Hampton
G Protein Coupled Receptors Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Hear Res 180:67-75. 2003..The new allele of Ames waltzer, designated Pcdh15(av-Jfb), may aid in studying the histopathology associated with Usher syndrome type 1F, which is caused by a functional null allele of PCDH15... - High-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss miceJames M Keller
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
J Assoc Res Otolaryngol 12:617-31. 2011..In addition, dissecting the underlying complex genetics of high-frequency hearing loss may prove relevant in identifying less severe and common forms of hearing impairment in the human population... - Genetic analyses of the mouse deafness mutations varitint-waddler (Va) and jerker (Espnje)Hung J Kim
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
J Assoc Res Otolaryngol 4:83-90. 2003..The results establish the framework for cloning the Va gene and provide valuable insights into the genetics of deafness mutations in the mouse... - Polygenic inheritance of sensorineural hearing loss (Snhl2, -3, and -4) and organ of Corti patterning defect in the ALR/LtJ mouse strainJoseph R Latoche
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 275:150-9. 2011..Cloning the Snhl2, -3, and -4 genes in the ALR/LtJ mice may provide important genetic and mechanistic insights into the pathology of human progressive sensorineural deafness... - Mapping quantitative trait loci for hearing loss in Black Swiss miceMeghan Drayton
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 212:128-39. 2006..Haplotype analyses across the Cdh23 locus demonstrated the phylogenetic relationship between Black Swiss and common inbred strains... - Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouseAlfredo Calderon
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 221:44-58. 2006..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects... - Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4Torrance Jackson
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, 20850, Rockville, MD, USA
Biochem Biophys Res Commun 296:1143-7. 2002..The human homologous region maps to 1p36.31. We present a detailed high-resolution genetic and physical map of markers located at distal chromosome 4 and demonstrate concordance of Espn with jerker... - Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and humanNikoletta Charizopoulou
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
Nat Commun 2:201. 2011..Our study suggests a pivotal role of Gipc3 in acoustic signal acquisition and propagation in cochlear hair cells... - Gene expression profile of the mouse organ of Corti at the onset of hearingCeline Pompeia
Section on Structural Cell Biology, NIDCD, National Institutes of Health, Building 50 Room 4249, 50 South Drive, Bethesda, MD 20892, USA
Genomics 83:1000-11. 2004..This resource provides both a view of the profile of gene expression in the OC at the onset of hearing and a tool to identify novel genes of importance in hearing... - Loss of GLUR2 alpha-amino-3-hydroxy-5-methyl-4-isoxazoleproprionic acid receptor subunit differentially affects remaining synaptic glutamate receptors in cerebellum and cochlear nucleiRonald S Petralia
Laboratory of Neurochemistry, NIDCD NIH, 50 4142, 50 South Drive MSC 8027, Bethesda, MD 20892 8027, USA
Eur J Neurosci 19:2017-29. 2004.... - Balanced levels of Espin are critical for stereociliary growth and length maintenanceAgnieszka Rzadzinska
Section on Structural Cell Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892 8027, USA
Cell Motil Cytoskeleton 62:157-65. 2005..These results indicate that Espin is important for the growth and maintenance of the actin-based protrusions of inner ear neuroepithelial cells... - Genome-wide linkage analyses identify Hfhl1 and Hfhl3 with frequency-specific effects on the hearing spectrum of NIH Swiss miceJames M Keller
Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
BMC Genet 13:32. 2012..We crossed the high frequency hearing loss (HFHL) line of NIH Swiss mice to three different inbred strains and performed linkage analysis on the DPOAE data obtained from the second-generation populations... - TRPML3 and hearing loss in the varitint-waddler mouseMargaret Atiba-Davies
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Biochim Biophys Acta 1772:1028-31. 2007..Both the sub-cellular localization of TRPML3 and the mutant phenotype suggest that TRPML3 is critical for stereocilia bundle formation during development and may function during endocytosis or exocytosis... - Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of cortiZheng Chen
Sections on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
J Neurosci 28:6633-41. 2008..Collectively, our data support a role for Jxc1 in controlling a critical step in cochlear growth, cell fate, and patterning of the organ of Corti... - Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2)Feng Qian
Division of Nephrology, School of Medicine, Johns Hopkins University, Baltimore, MD, USA
Pflugers Arch 451:277-85. 2005..Here we review the function of TRPML1 and TRPP2 as representative members of these families, focusing on the genetics, physiology, and biochemistry... - Strain background effects and genetic modifiers of hearing in miceKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Brain Res 1091:79-88. 2006..Because modifier genes and digenic inheritance are not always distinguishable, we also include in this review several examples of digenic inheritance of hearing loss that have been reported in both mice and humans... - Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noiseMariola Sliwinska-Kowalska
Department of Audiology and Phoniatrics, Nofer Institute of Occupational Medicine, 91 348 Lodz, Poland
Am J Hum Biol 20:481-3. 2008..One amino acid change occurred at a conserved position in ectodomain 5. Our results provide a framework for future study of polymorphisms in CDH23 as risk factor for NIHL...