Konrad Noben-Trauth

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease
    Konrad 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
  2. pmc Ectopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouse
    Konrad 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
  3. pmc Inheritance patterns of progressive hearing loss in laboratory strains of mice
    Konrad Noben-Trauth
    Section on Neurogenetics, NIDCD, National Institutes of Health, 5 Research Court, Rockville, MD 20850 3227, USA
    Brain Res 1277:42-51. 2009
  4. doi request reprint The TRPML3 channel: from gene to function
    Konrad 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
  5. pmc Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of mice
    Konrad 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
  6. pmc Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
    Konrad 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
  7. pmc Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice
    Federica 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
  8. ncbi request reprint Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice
    Agnieszka 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
  9. ncbi request reprint A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15
    Lori 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
  10. pmc High-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss mice
    James 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

Detail Information

Publications25

  1. ncbi request reprint Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease
    Konrad 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...
  2. pmc Ectopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouse
    Konrad 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
    ....
  3. pmc Inheritance patterns of progressive hearing loss in laboratory strains of mice
    Konrad 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...
  4. doi request reprint The TRPML3 channel: from gene to function
    Konrad 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...
  5. pmc Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of mice
    Konrad 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...
  6. pmc Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
    Konrad 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...
  7. pmc Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice
    Federica 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...
  8. ncbi request reprint Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice
    Agnieszka 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
    ....
  9. ncbi request reprint A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15
    Lori 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...
  10. pmc High-frequency sensorineural hearing loss and its underlying genetics (Hfhl1 and Hfhl2) in NIH Swiss mice
    James 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...
  11. pmc 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...
  12. pmc Polygenic inheritance of sensorineural hearing loss (Snhl2, -3, and -4) and organ of Corti patterning defect in the ALR/LtJ mouse strain
    Joseph 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...
  13. ncbi request reprint Mapping quantitative trait loci for hearing loss in Black Swiss mice
    Meghan 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...
  14. ncbi request reprint Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse
    Alfredo 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...
  15. ncbi request reprint Genetic and physical maps of jerker (Espn(je)) on mouse chromosome 4
    Torrance 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...
  16. pmc Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
    Nikoletta 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...
  17. ncbi request reprint Gene expression profile of the mouse organ of Corti at the onset of hearing
    Celine 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...
  18. ncbi request reprint Loss of GLUR2 alpha-amino-3-hydroxy-5-methyl-4-isoxazoleproprionic acid receptor subunit differentially affects remaining synaptic glutamate receptors in cerebellum and cochlear nuclei
    Ronald 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
    ....
  19. ncbi request reprint Balanced levels of Espin are critical for stereociliary growth and length maintenance
    Agnieszka 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...
  20. pmc Genome-wide linkage analyses identify Hfhl1 and Hfhl3 with frequency-specific effects on the hearing spectrum of NIH Swiss mice
    James 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...
  21. ncbi request reprint TRPML3 and hearing loss in the varitint-waddler mouse
    Margaret 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...
  22. pmc Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti
    Zheng 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...
  23. ncbi request reprint 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...
  24. pmc Strain background effects and genetic modifiers of hearing in mice
    Kenneth 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...
  25. doi request reprint Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise
    Mariola 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...