Research Topics
Genomes and Genes | K B AvrahamSummaryAffiliation: Tel Aviv University Country: Israel Publications
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Publications
Deafness genes in Israel: implications for diagnostics in the clinicZippora 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...- Genomic advances for gene discovery in hereditary hearing lossKaren 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... 
High-throughput sequencing to decipher the genetic heterogeneity of deafnessZippora 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...- Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora 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... 
Mouse models for deafness: lessons for the human inner ear and hearing lossKaren B Avraham
Department of Human Genetics, Sackler School of Medicine, TelAviv University, Tel Aviv, Israel, USA
Ear Hear 24:332-41. 2003....- Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer miceK 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... - Modifying with mitochondriaK 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... - Prospects for gene therapy in hearing lossKaren 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... - Noise stresses the junctions to deafKaren 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... - Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafnessO 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)... - Hearing loss: mechanisms revealed by genetics and cell biologyAmiel 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... - A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulumZippora 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.... - Inherited connexin mutations associated with hearing lossK 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... - Mouse models to study inner ear development and hereditary hearing lossLilach 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.... - The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora 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... - Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle EastHashem 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... - Beethoven, a mouse model for dominant, progressive hearing loss DFNA36Sarah 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... - The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli populationT Sobe
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Israel
Hum Genet 106:50-7. 2000.... - Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansO 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... - Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereociliaI 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... - Therapeutics of hearing loss: expectations vs realityOrna 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... - Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness geneRonna 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... - Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutationAmiel 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... - Connexin-associated deafness and speech perception outcome of cochlear implantationRiki 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..These data have important implications as a prognostic indicator when counseling candidates for cochlear implantation... - A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cellsRonna Hertzano
Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel
PLoS Genet 4:e1000207. 2008.... - MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafnessLilach 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.... - Progressive vestibular mutation leads to elevated anxietyShahar 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... - Mouse models for human deafness: current tools for new fashionsNadav 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.... - Connexins in hearing loss: a comprehensive overviewAdi 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... - Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia geneI 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... - A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinIrit 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... - Hearing impairment: a panoply of genes and functionsAmiel 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... - The clinical presentation of DFNA15/POU4F3Irit Gottfried
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Adv Otorhinolaryngol 61:92-7. 2002 - The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activitySigal 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... - Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxietyReut 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... - MicroRNAs are essential for development and function of inner ear hair cells in vertebratesLilach 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... - An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad miceNadav 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.... - The structural context of disease-causing mutations in gap junctionsSarel 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.... - Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locusZippora 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... - Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing lossFrancesca 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... - 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... - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndromeTamar 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 - From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30Tom 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... - USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapsesAvital 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.... - Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing lossHashem 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... - Genetics of deafness: recent advances and clinical implicationsAbraham 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... - Promoting Arab and Israeli cooperation: peacebuilding through health initiativesHarvey 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... - Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activityR 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... - Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian populationTom 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... - Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular systemRonna 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... - Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafishChristoph 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... - A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairmentCharlotte 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... - 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...