K B Avraham

Summary

Affiliation: Tel Aviv University
Country: Israel

Publications

  1. doi Deafness genes in Israel: implications for diagnostics in the clinic
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
    Pediatr Res 66:128-34. 2009
  2. pmc Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways
    Anya Rudnicki
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel
    BMC Genomics 15:484. 2014
  3. pmc A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells
    Ronna Hertzano
    Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
    PLoS Genet 4:e1000207. 2008
  4. pmc Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear
    Tal Elkan-Miller
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    PLoS ONE 6:e18195. 2011
  5. pmc microRNAs: the art of silencing in the ear
    Anya Rudnicki
    Sackler Faculty of Medicine, Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Israel
    EMBO Mol Med 4:849-59. 2012
  6. ncbi Genomic advances for gene discovery in hereditary hearing loss
    Karen B Avraham
    Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
    J Basic Clin Physiol Pharmacol 23:93-7. 2012
  7. pmc High-throughput sequencing to decipher the genetic heterogeneity of deafness
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 13:245. 2012
  8. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
  9. pmc Noise stresses the junctions to deaf
    Karen B Avraham
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    EMBO Mol Med 1:85-7. 2009
  10. ncbi Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice
    K B Avraham
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel
    Hum Mol Genet 6:1225-31. 1997

Detail Information

Publications57

  1. doi Deafness genes in Israel: implications for diagnostics in the clinic
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
    Pediatr Res 66:128-34. 2009
    ..In the future, the identification of specific mutations may be relevant for specific types of treatment...
  2. pmc Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways
    Anya Rudnicki
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel
    BMC Genomics 15:484. 2014
    ..A comprehensive identification of miRNAs in the sensory epithelia and their gene targets will enable pathways of auditory and vestibular function to be defined...
  3. pmc A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells
    Ronna Hertzano
    Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
    PLoS Genet 4:e1000207. 2008
    ....
  4. pmc Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear
    Tal Elkan-Miller
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    PLoS ONE 6:e18195. 2011
    ..Our findings suggest that miR-135b serves as a cellular effector, involved in regulating some of the differences between the cochlear and vestibular hair cells...
  5. pmc microRNAs: the art of silencing in the ear
    Anya Rudnicki
    Sackler Faculty of Medicine, Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Israel
    EMBO Mol Med 4:849-59. 2012
    ..Finally, it has been suggested that miRNAs may be used in the future in regeneration of inner ear hair cells and ultimately play a role in therapeutics...
  6. ncbi Genomic advances for gene discovery in hereditary hearing loss
    Karen B Avraham
    Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
    J Basic Clin Physiol Pharmacol 23:93-7. 2012
    ..Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past...
  7. pmc High-throughput sequencing to decipher the genetic heterogeneity of deafness
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 13:245. 2012
    ..We describe the impact that high-throughput sequencing approaches are having in discovery of genes related to hearing loss and the implications for clinical diagnosis...
  8. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
    ..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity...
  9. pmc Noise stresses the junctions to deaf
    Karen B Avraham
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    EMBO Mol Med 1:85-7. 2009
    ..All are in abundance and although they are tantalizing to all your senses, your sense of hearing picks up what you cannot see with your eyes or feel with your hands...
  10. ncbi Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice
    K B Avraham
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel
    Hum Mol Genet 6:1225-31. 1997
    ..The MYO6 gene maps to human chromosome 6q13. The isolation of the human gene makes it now possible to determine if mutations in MYO6 contribute to the pathogenesis of deafness in the human population...
  11. ncbi Prospects for gene therapy in hearing loss
    Karen B Avraham
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Basic Clin Physiol Pharmacol 14:77-83. 2003
    ..This review is not meant to be comprehensive, but to highlight some of the most recent developments in the field. Several recent reviews have described potential therapeutic approaches...
  12. ncbi Modifying with mitochondria
    K B Avraham
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Nat Genet 27:136-7. 2001
    ..This discovery sets the stage for the identification of factors that modify expression levels and variability of human hearing impairments...
  13. ncbi Mouse models for deafness: lessons for the human inner ear and hearing loss
    Karen B Avraham
    Department of Human Genetics, Sackler School of Medicine, TelAviv University, Tel Aviv, Israel, USA
    Ear Hear 24:332-41. 2003
    ....
  14. ncbi Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
    O Vahava
    Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Science 279:1950-4. 1998
    ..A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss...
  15. ncbi Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness
    O Atar
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Neuroscience 168:851-7. 2010
    ..These results help towards providing a comprehensive understanding of the molecular mechanisms of hair cell death, which might lead to the development of new therapeutic anti-apoptotic agents to alleviate hereditary hearing loss (HL)...
  16. ncbi Inherited connexin mutations associated with hearing loss
    K B Avraham
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
    Cell Commun Adhes 8:419-24. 2001
    ..Mouse models with specific connexin mutations leading to deafness will help resolve the many questions regarding the role of these gap junction proteins in the inner ear...
  17. doi Hearing loss: mechanisms revealed by genetics and cell biology
    Amiel A Dror
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Annu Rev Genet 43:411-37. 2009
    ..This knowledge is providing answers for the families with HL, who contribute a great deal to the research being performed worldwide...
  18. doi A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum
    Zippora N Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Arch Otolaryngol Head Neck Surg 134:403-7. 2008
    ....
  19. ncbi The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa
    Zippora Brownstein
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Pediatr Res 55:995-1000. 2004
    ..Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit...
  20. ncbi Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
    Hashem Shahin
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
    Hum Genet 110:284-9. 2002
    ..Some of the 25 families with multiple cases of inherited prelingual deafness and wildtype GJB2 sequences may represent as-yet-unknown genes for inherited hearing loss...
  21. ncbi Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
    Sarah Vreugde
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Nat Genet 30:257-8. 2002
    ..Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively...
  22. ncbi Mouse models to study inner ear development and hereditary hearing loss
    Lilach M Friedman
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Int J Dev Biol 51:609-31. 2007
    ....
  23. ncbi The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
    T Sobe
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Israel
    Hum Genet 106:50-7. 2000
    ....
  24. ncbi Therapeutics of hearing loss: expectations vs reality
    Orna Atar
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Drug Discov Today 10:1323-30. 2005
    ..Ultimately, the effect of genomics on medicine will be dramatic, providing us with the ability to cure sensory defects, a tangible goal that is now within our reach...
  25. ncbi Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia
    I Jill Karolyi
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0638, USA
    Hum Mol Genet 12:2797-805. 2003
    ..These data suggest that the function of Myo15 is distinct from that of Myo6, Myo7a or pi in development and/or maintenance of stereocilia...
  26. pmc Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation
    Amiel A Dror
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    J Biol Chem 285:21724-35. 2010
    ..We propose a novel mechanism for the accumulation and aggregation of oxalate crystals in the inner ear...
  27. ncbi Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
    Ronna Hertzano
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Hum Mol Genet 13:2143-53. 2004
    ..These results identify Gfi1 as the first downstream target of a hair cell specific transcription factor and suggest that outer hair cell degeneration in Pou4f3 mutants is largely or entirely a result of the loss of expression of Gfi1...
  28. ncbi Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene
    I Pecker
    Department of Human Genetics, Tel Aviv University, Ramat Aviv, 69978, Israel
    Genomics 35:39-45. 1996
    ..Fluorescence in situ hybridization and linkage analysis located the Atm gene on mouse chromosome 9, band 9C, in a region homologous to the ATM region on human chromosome 11q22-q23...
  29. ncbi Connexin-associated deafness and speech perception outcome of cochlear implantation
    Riki Taitelbaum-Swead
    Department of Communication Disorders, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Arch Otolaryngol Head Neck Surg 132:495-500. 2006
    ..To compare performance after cochlear implantation in children with mutations in connexin (Cx) 26 (GJB2) or Cx30 (GJB6) and children with deafness of unknown etiology...
  30. ncbi Mouse models for human deafness: current tools for new fashions
    Nadav Ahituv
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Trends Mol Med 8:447-51. 2002
    ....
  31. doi MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness
    Lilach M Friedman
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Mamm Genome 20:581-603. 2009
    ....
  32. doi Progressive vestibular mutation leads to elevated anxiety
    Shahar Shefer
    Psychobiology Research Unit, Department of Psychology, Faculty of Social Sciences, Tel Aviv University, Tel Aviv, Israel
    Brain Res 1317:157-64. 2010
    ..These findings demonstrate that congenital vestibular genotype predisposes the animal to elevated levels of anxiety in space-related tests. Similar causality in clinics may redirect treatment strategies in afflicted patients...
  33. ncbi Connexins in hearing loss: a comprehensive overview
    Adi D Sabag
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Basic Clin Physiol Pharmacol 16:101-16. 2005
    ..Learning more about the connexin family in general and about connexin 26 in particular can shed light on the pathogenesis of the inner ear and bring us closer to finding clinical solutions for the hearing impaired...
  34. doi Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety
    Reut Avni
    Department of Zoology, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel
    Behav Brain Res 202:210-7. 2009
    ..Altogether, the three comorbidities of hyperactivity, anxiety, and disorientation can be presented as a syndrome associated with vestibular deficiency in this animal model, and serve in studying vestibular deficiency in humans...
  35. pmc MicroRNAs are essential for development and function of inner ear hair cells in vertebrates
    Lilach M Friedman
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Proc Natl Acad Sci U S A 106:7915-20. 2009
    ..Our data support the hypothesis that inner ear tissue differentiation and maintenance are regulated and controlled by conserved sets of cell-specific miRNAs in both mouse and zebrafish...
  36. doi Hearing impairment: a panoply of genes and functions
    Amiel A Dror
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Neuron 68:293-308. 2010
    ..Overall, studies in genetics have provided research scientists and clinicians with insight regarding practical implications for the hearing impaired, while heralding hope for future development of therapeutics...
  37. ncbi A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    Irit Gottfried
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Mol Genet 11:1311-6. 2002
    ..The change of leucine to proline is likely to alter the structure of the first TMH of connexin by inducing a kink, thus influencing connexon structure and function...
  38. ncbi An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice
    Nadav Ahituv
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel
    Mamm Genome 15:424-32. 2004
    ....
  39. ncbi The clinical presentation of DFNA15/POU4F3
    Irit Gottfried
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Adv Otorhinolaryngol 61:92-7. 2002
  40. ncbi Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Arch Otolaryngol Head Neck Surg 132:416-24. 2006
    ..To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family...
  41. ncbi The structural context of disease-causing mutations in gap junctions
    Sarel J Fleishman
    Department of Biochemistry, George S Wise Faculty of Life Sciences, Sackler School of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel
    J Biol Chem 281:28958-63. 2006
    ....
  42. pmc The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity
    Sigal Weiss
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Mol Cell Biol 23:7957-64. 2003
    ..We propose that the combination of defects caused by the mutation on the function of the POU4F3 transcription factor eventually leads to hair cell morbidity in affected family H members...
  43. ncbi A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 348:1664-70. 2003
  44. pmc Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss
    Francesca Donaudy
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Am J Hum Genet 72:1571-7. 2003
    ..MYO1A, which is located within the DFNA48 locus, is the first myosin I family member found to be involved in causing deafness and may be a major contributor to autosomal dominant-hearing loss...
  45. pmc Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
    Ignacio 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...
  46. pmc From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Proc Natl Acad Sci U S A 99:7518-23. 2002
    ..The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems...
  47. ncbi USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    Avital Adato
    Department of Molecular Genetics and the Crown Human Genome Center, The Weizmann Institute of Science, Rehovot, 76100, Israel
    Eur J Hum Genet 10:339-50. 2002
    ....
  48. ncbi Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish
    Christoph Seiler
    Max Planck Institut fur Entwicklungsbiologie, 72076 Tubingen, Germany
    Dev Biol 272:328-38. 2004
    ..We conclude that zebrafish myo6b is required for maintaining the integrity of the apical surface of hair cells, suggesting a conserved role for myosin VI in regulation of actin-based interactions with the plasma membrane...
  49. ncbi A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment
    Charlotte R Rhodes
    MRC Institute of Hearing Research, University Park, NG7 2RD, Nottingham, UK
    Mamm Genome 15:686-97. 2004
    ..Protein analysis revealed reduced levels of myosin VIIa expression in inner ears of headbanger mice. Headbanger represents a novel inner ear phenotype and provides a potential model for low-frequency-type human hearing loss...
  50. ncbi Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity
    R Lee Clough
    Molecular Audiology, Department of Immunology and Molecular Pathology, UCL Centre for Auditory Research, Windeyer Institute of Medical Sciences, University College London Medical School, The Windeyer Building, Cleveland Street, London W1T 4JF, UK
    Biochem Biophys Res Commun 324:372-81. 2004
    ..Additionally, BDNF expression is reduced in the inner ear of a Brn-3c mutant mouse during embryogenesis. Our data suggest that Brn-3c may play a role in regulating neurotrophin gene expression in the inner ear...
  51. ncbi Promoting Arab and Israeli cooperation: peacebuilding through health initiatives
    Harvey Skinner
    University of Toronto, Toronto, ON, Canada
    Lancet 365:1274-7. 2005
    ..Lessons learned from this experience and the model provide direction for ways that health professionals can contribute to peacebuilding...
  52. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert 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...
  53. pmc Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss
    Hashem Shahin
    Department of Life Sciences, Bethlehem University, Bethlehem
    Am J Hum Genet 78:144-52. 2006
    ..Antibodies to TRIOBP reveal expression in sensory cells of the inner ear and colocalization with F-actin along the length of the stereocilia...
  54. ncbi Genetics of deafness: recent advances and clinical implications
    Abraham Goldfarb
    Department of Otolaryngology Head and Neck Surgery, Hadassah University Hospital, Jerusalem, Israel
    J Basic Clin Physiol Pharmacol 13:75-88. 2002
    ..The proteins these genes encode range from transcription factors to molecular motors to ion channels. We review the recent discoveries and discuss the impact of this research...
  55. pmc Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genomics 2:203-11. 2006
    ..We also conclude that the same genes are responsible for hearing loss in this population as elsewhere, so that gene discovery in these families informs the genetics of hearing loss worldwide...
  56. ncbi Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system
    Ronna Hertzano
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Eur J Neurosci 25:999-1005. 2007
    ..This is the first example of a hair cell-specific gene expressed both in auditory and in vestibular hair cells, with differential regulation of expression in these two closely related systems...