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DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

Ofer Yizhar-Barnea, Cristina Valensisi, Naresh Doni Jayavelu, Kamal Kishore, Colin Andrus, Tal Koffler-Brill, Kathy Ushakov, Kobi Perl, Yael Noy, Yoni Bhonker Mattia Pelizzol, R. David Hawkins & Karen B. Avraham

Scientific reports , 2018

Genetics of hearing loss in the Arab population of Northern Israel

Nada Danial-Farran, Zippora Brownstein, Suleyman Gulsuner, Luna Tammer, Morad Khayat, Ola Aleme, Elena Chervinsky, Olfat Aboleile Zoubi, Tom Walsh, Gil Ast, Mary-Claire King, Karen B. Avraham & Stavit A. Shalev

European Journal of Human Genetics , 2018

Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.

Perl K, Shamir R, Avraham KB.

Human Genomics , 2018

miR-96 is required for normal development of the auditory hindbrain

Tina Schluter, Christina Berger, Elena Rosengauer, Pascal Fieth, Constanze Krohs, Kathy Ushakov, Karen P. Steel, Karen B. Avraham, Alexander K. Hartmann, Felix Felmy, Hans Gerd Nothwang

Human Molecular Genetics, , 2018

Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems

Ushakov K, Koffler-Brill T, Rom A, Perl K, Ulitsky I, Avraham KB

Sci Rep , 2017

Single cell analysis of the inner ear sensory organs

Yizhar-Barnea O, Avraham KB

Int J Dev Biol , 2017

Reduced changes in protein compared to mRNA levels across non-proliferating tissues

Perl K, Ushakov K, Pozniak Y, Yizhar-Barnea O, Bhonker Y, Shivatzki S, Geiger T, Avraham KB, Shamir R

BMC Genomics , 2017

Insights into inner ear-specific gene regulation: Epigenetics and non-coding RNAs in inner ear development and regeneration.

Doetzlhofer A, Avraham KB.

Semin Cell Dev Biol , 2016

What’s hot about otoferlin.

Avraham KB.

EMBO J , 2016

The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI.

Marcotti W, Corns LF, Goodyear RJ, Rzadzinska AK, Avraham KB, Steel KP, Richardson GP, Kros CJ.

J Physiol , 2016

Hearing loss patterns after cochlear implantation via the round window in an animal model.

Attias J, Hod R, Raveh E, Mizrachi A, Avraham KB, Lenz DR, Nageris BI.

Am J Otolaryngol , 2016

The GPSM2/LGN GoLoco motifs are essential for hearing.

Bhonker Y, Abu-Rayyan A, Ushakov K, Amir-Zilberstein L, Shivatzki S, Yizhar-Barnea O, Elkan-Miller T, Tayeb-Fligelman E, Kim SM, Landau M, Kanaan M, Chen P, Matsuzaki F, Sprinzak D, Avraham KB.

Mamm Genome , 2016

Genetics of Hearing Loss: Syndromic.

Koffler T, Ushakov K, Avraham KB.

Otolaryngol Clin North Am , 2015

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear.

Jones C, Qian D, Kim SM, Li S, Ren D, Knapp L, Sprinzak D, Avraham KB, Matsuzaki F, Chi F, Chen P.

Dev Biol , 2014

Israel Society for Auditory Research (ISAR): 2014 annual scientific conference.

Banai K, Avraham KB.

J Basic Clin Physiol Pharmacol , 2014

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

Sokolov M, Brownstein Z, Frydman M, Avraham KB.

J Basic Clin Physiol Pharmacol , 2014

Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice.

Shefer S, Gordon C, Avraham KB, Mintz M.

Behav Brain Res , 2015

Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways.

Rudnicki A*, Isakov O*, Ushakov K, Shivatzki S, Weiss I, Friedman LM, Shomron N, Avraham KB.

BMC Genomics , 2014

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.

Dror AA, Lenz DR, Shivatzki S, Cohen K, Ashur-Fabian O, Avraham KB.

Mamm Genome , 2014

microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation.

Rudnicki A, Shivatzki S, Beyer LA, Takada Y, Raphael Y, Avraham KB.

Hum Mol Genet , 2014

MicroRNAs in sensorineural diseases of the ear.

Ushakov K, Rudnicki A, Avraham KB.

Front Mol Neurosci , 2013

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M.

Genet Test Mol Biomarkers , 2014

Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy.

Takada Y, Beyer LA, Swiderski DL, O'Neal AL, Prieskorn DM, Shivatzki S, Avraham KB, Raphael Y.

Hear Res , 2014

Rescue from hearing loss in Usher’s syndrome.

Avraham KB.

N Engl J Med , 2013

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein Z*, Abu-Rayyan A*, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB.

Eur J Hum Genet , 2014

Advances in genetic diagnostics for hereditary hearing loss.

Idan N, Brownstein Z, Shivatzki S, Avraham KB.

J Basic Clin Physiol Pharmacol , 2013

A “Tric” to tighten cell-cell junctions in the cochlea for hearing.

Higashi T, Lenz DR, Furuse M, Avraham KB.

J Clin Invest , 2013

Israel Society for Auditory Research (ISAR): 2013 Annual Scientific Conference.

Avraham KB.

J Basic Clin Physiol Pharmacol , 2013

Time-dependent gene expression analysis of the developing superior olivary complex.

Ehmann H, Hartwich H, Salzig C, Hartmann N, Cl̩ment-Ziza M, Ushakov K, Avraham KB, Bininda-Emonds OR, Hartmann AK, Lang P, Friauf E, Nothwang HG.

J Biol Chem , 2013

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T*, Shivatzki S*, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB.

Hum Mutat , 2013

The LINC complex is essential for hearing.

Horn HF*, Brownstein Z*, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, Friedman LM, Roux KJ, Kozlov S, Jeang KT, Frydman M, Burke B, Stewart CL, Avraham KB.

J Clin Invest , 2013

Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of mammalian central auditory nuclei.

Rosengauer E, Hartwich H, Hartmann AM, Rudnicki A, Satheesh SV, Avraham KB, Nothwang HG.

PLoS One , 2012

Genomic advances for gene discovery in hereditary hearing loss.

Avraham KB, Kanaan M.

J Basic Clin Physiol Pharmacol , 2012

microRNAs: the art of silencing in the ear.

Rudnicki A, Avraham KB.

EMBO Mol Med , 2012

High-throughput sequencing to decipher the genetic heterogeneity of deafness.

Brownstein Z, Bhonker Y, Avraham KB.

Genome Biol , 2012

Integration of human and mouse genetics reveals pendrin function in hearing and deafness.

Dror AA, Brownstein Z, Avraham KB.

Cell Physiol Biochem , 2011

Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

Dossena S, Nofziger C, Brownstein Z, Kanaan M, Avraham KB, Paulmichl M.

Cell Physiol Biochem , 2011

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.

Brownstein Z*, Friedman LM*, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.

Genome Biol , 2011

Hereditary hearing loss: from human mutation to mechanism.

Lenz DR, Avraham KB.

Hear Res , 2011

Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear.

Elkan-Miller T, Ulitsky I, Hertzano R, Rudnicki A, Dror AA, Lenz DR, Elkon R, Irmler M, Beckers J, Shamir R, Avraham KB.

PLoS One , 2011

Hearing loss: a common disorder caused by many rare alleles.

Raviv D, Dror AA, Avraham KB.

Ann N Y Acad Sci , 2010

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.

Walsh VL*, Raviv D*, Dror AA, Shahin H, Walsh T, Kanaan MN, Avraham KB, King MC.

Mamm Genome , 2011

SPIKE: a database of highly curated human signaling pathways.

Paz A, Brownstein Z, Ber Y, Bialik S, David E, Sagir D, Ulitsky I, Elkon R, Kimchi A, Avraham KB, Shiloh Y, Shamir R.

Nucleic Acids Res , 2011

Hearing impairment: a panoply of genes and functions.

Dror AA, Avraham KB.

Neuron , 2010

Collaborative genomics for human health and cooperation in the Mediterranean region.

Oz̤elik T, Kanaan M, Avraham KB, Yannoukakos D, M̩garban̩ A, Tadmouri GO, Middleton L, Romeo G, King MC, Levy-Lahad E.

Nat Genet , 2010

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB.

Am J Hum Genet , 2010

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M.

Am J Hum Genet , 2010

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.

Wainreb G, Ashkenazy H, Bromberg Y, Starovolsky-Shitrit A, Haliloglu T, Ruppin E, Avraham KB, Rost B, Ben-Tal N.

Nucleic Acids Res , 2010

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T.

J Med Genet , 2010

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.

Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrab̩ de Angelis M, Paulmichl M, Weiner S, Avraham KB.

J Biol Chem , 2010

Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness.

Atar O, Avraham KB.

Neuroscience , 2010

Noise stresses the junctions to deaf.

Avraham KB.

EMBO Mol Med , 2009

Progressive vestibular mutation leads to elevated anxiety.

Shefer S, Gordon CR, Avraham KB, Mintz M.

Brain Res , 2010

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet , 2010

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness.

Friedman LM, Avraham KB.

Mamm Genome , 2009

Hearing loss: mechanisms revealed by genetics and cell biology.

Dror AA, Avraham KB.

Annu Rev Genet , 2009

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.

Geller SF, Guerin KI, Visel M, Pham A, Lee ES, Dror AA, Avraham KB, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Triffo WJ, Bao S, Isosomppi J, VÌ_stinsalo H, Sankila EM, Flannery JG.

PLoS Genet , 2009

Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety.

Avni R, Elkan T, Dror AA, Shefer S, Eilam D, Avraham KB, Mintz M.

Behav Brain Res , 2009

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates.

Friedman LM, Dror AA, Mor E, Tenne T, Toren G, Satoh T, Biesemeier DJ, Shomron N, Fekete DM, Hornstein E, Avraham KB.

Proc Natl Acad Sci U S A , 2009

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z, Avraham KB.

Pediatr Res , 2009

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.

Hertzano R, Shalit E, Rzadzinska AK, Dror AA, Song L, Ron U, Tan JT, Shitrit AS, Fuchs H, Hasson T, Ben-Tal N, Sweeney HL, de Angelis MH, Steel KP, Avraham KB.

PLoS Genet , 2008

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB.

Arch Otolaryngol Head Neck Surg , 2008

Mouse models to study inner ear development and hereditary hearing loss.

Friedman LM, Dror AA, Avraham KB.

Int J Dev Biol , 2007

Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system.

Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB.

Eur J Neurosci , 2007

The structural context of disease-causing mutations in gap junctions.

Fleishman SJ, Sabag AD, Ophir E, Avraham KB, Ben-Tal N.

J Biol Chem , 2006

Connexin-associated deafness and speech perception outcome of cochlear implantation.

Taitelbaum-Swead R, Brownstein Z, Muchnik C, Kishon-Rabin L, Kronenberg J, Megirov L, Frydman M, Hildesheimer M, Avraham KB.

Arch Otolaryngol Head Neck Surg , 2006

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB.

Arch Otolaryngol Head Neck Surg , 2006

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Walsh T, Abu Rayan A, Abu Sa'ed J, Shahin H, Shepshelovich J, Lee MK, Hirschberg K, Tekin M, Salhab W, Avraham KB, King MC, Kanaan M.

Hum Genomics , 2006

Genetics of deafness: recent advances and clinical implications.

Goldfarb A, Avraham KB.

J Basic Clin Physiol Pharmacol , 2002

Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development.

Fiolka K, Hertzano R, Vassen L, Zeng H, Hermesh O, Avraham KB, Duhrsen U, Moroy T.

EMBO Rep , 2006

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M.

Am J Hum Genet , 2006

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, et al.

Am J Hum Genet , 2005

Connexins in hearing loss: a comprehensive overview.

Sabag AD, Dagan O, Avraham KB.

J Basic Clin Physiol Pharmacol , 2005

Therapeutics of hearing loss: expectations vs reality.

Atar O, Avraham KB.

Drug Discov Today , 2005

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

del Castillo FJ, RodrÌ_guez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, MartÌ_n Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, et al.

J Med Genet , 2005

Promoting Arab and Israeli cooperation: peacebuilding through health initiatives.

Skinner H, Abdeen Z, Abdeen H, Aber P, Al-Masri M, Attias J, Avraham KB, Carmi R, Chalin C, El Nasser Z, Hijazi M, Jebara RO, Kanaan M, Pratt H, Raad F, Roth Y, Williams AP, Noyek A.

Lancet , 2005

Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity.

Clough RL, Sud R, Davis-Silberman N, Hertzano R, Avraham KB, Holley M, Dawson SJ.

Biochem Biophys Res Commun , 2004

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.

Rhodes CR, Hertzano R, Fuchs H, Bell RE, de Angelis MH, Steel KP, Avraham KB.

Mamm Genome , 2004

Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish.

Seiler C, Ben-David O, Sidi S, Hendrich O, Rusch A, Burnside B, Avraham KB, Nicolson T.

Dev Biol , 2004

Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene.

Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, YÌ_cel R, Frankel WN, Rechavi G, Moroy T, Friedman TB, Kelley MW, Avraham KB.

Hum Mol Genet , 2004

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.

Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP.

Mamm Genome , 2004

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB.

Pediatr Res , 2004

The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.

Weiss S, Gottfried I, Mayrose I, Khare SL, Xiang M, Dawson SJ, Avraham KB.

Mol Cell Biol , 2003

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, et al.

Am J Hum Genet , 2003

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ.

J Med Genet , 2003

Prospects for gene therapy in hearing loss.

Avraham KB, Raphael Y.

J Basic Clin Physiol Pharmacol , 2003

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA.

Hum Mol Genet , 2003

Mouse models for deafness: lessons for the human inner ear and hearing loss.

Avraham KB.

Ear Hear , 2003

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

RamShankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, Avraham KB, Anand A.

J Med Genet , 2003

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P.

Am J Hum Genet , 2003

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB.

N Engl J Med , 2003

The clinical presentation of DFNA15/POU4F3.

Gottfried I, Huygen PL, Avraham KB.

Adv Otorhinolaryngol , 2002

Mouse models for human deafness: current tools for new fashions.

Ahituv N, Avraham KB.

Trends Mol Med , 2002

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, MillÌÁn JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D.

Eur J Hum Genet , 2002

Inherited connexin mutations associated with hearing loss.

Avraham KB.

Cell Commun Adhes , 2001

From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.

Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB.

Proc Natl Acad Sci U S A , 2002

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.

Hum Mol Genet , 2002

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C.

Proc Natl Acad Sci U S A , 2002

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M.

Hum Genet , 2002

The genetics of deafness: a model for genomic and biological complexity.

Avraham KB.

Ernst Schering Res Found Workshop , 2002

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrab̩ De Angelis M, Avraham KB, Steel KP.

Nat Genet , 2002

MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P.

Am J Hum Genet , 2001

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

LÌ_pez-Bigas N, OlivÌ© M, Rabionet R, Ben-David O, MartÌ_nez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, ArbonÌ©s ML, Estivill X.

Hum Mol Genet , 2001

The Notch ligand Jagged1 is required for inner ear sensory development.

Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrab̩ de Angelis M.

Proc Natl Acad Sci U S A , 2001

Positional-candidate cloning of genes from mouse mutants.

Avraham KB.

Methods Mol Biol , 2001

Modifying with mitochondria.

Avraham KB.

Nat Genet , 2001

Genomic structure of the human unconventional myosin VI gene.

Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB.

Gene , 2000

Auditory and vestibular mouse mutants: models for human deafness.

Ahituv N, Avraham KB.

J Basic Clin Physiol Pharmacol , 2000

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB.

Hum Genet , 2000

Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.

Kiernan AE, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel KP, Avraham KB.

J Neurocytol , 1999


Avraham KB.

Adv Otorhinolaryngol , 2000

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB.

Arch Otolaryngol Head Neck Surg , 2000

Unconventional myosins and the genetics of hearing loss.

Friedman TB, Sellers JR, Avraham KB.

Am J Med Genet , 1999

The genetics of hearing loss.

Ben-David O, Avraham KB.

J Basic Clin Physiol Pharmacol , 1999

Role of myosin VI in the differentiation of cochlear hair cells.

Self T, Sobe T, Copeland NG, Jenkins NA, Avraham KB, Steel KP.

Dev Biol , 1999

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim.

Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, Bonn̩-Tamir B, Shohat M.

Am J Med Genet , 1999

Hear come more genes!

Avraham KB.

Nat Med , 1998

Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally.

Varfolomeev EE, Schuchmann M, Luria V, Chiannilkulchai N, Beckmann JS, Mett IL, Rebrikov D, Brodianski VM, Kemper OC, Kollet O, Lapidot T, Soffer D, Sobe T, Avraham KB, Goncharov T, Holtmann H, Lonai P, Wallach D.

Immunity , 1998

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB.

Science , 1998

Deafness. Sounds from the cochlea.

Avraham KB.

Nature , 1997

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice.

Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA.

Hum Mol Genet , 1997

Motors, channels and the sounds of silence.

Avraham KB.

Nat Med , 1997

Mapping of unconventional myosins in mouse and human.

Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA.

Genomics , 1996

Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene.

Pecker I, Avraham KB, Gilbert DJ, Savitsky K, Rotman G, Harnik R, Fukao T, Schr̦ck E, Hirotsune S, Tagle DA, Collins FS, Wynshaw-Boris A, Ried T, Copeland NG, Jenkins NA, Shiloh Y, Ziv Y.

Genomics , 1996

The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products.

Berger R, Theodor L, Shoham J, Gokkel E, Brok-Simoni F, Avraham KB, Copeland NG, Jenkins NA, Rechavi G, Simon AJ.

Genome Res , 1996

Chromosomal organization and transcriptional regulation of human GEM and localization of the human and mouse GEM loci encoding an inducible Ras-like protein.

Santoro T, Maguire J, McBride OW, Avraham KB, Copeland NG, Jenkins NA, Kelly K.

Genomics , 1995

The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.

Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA.

Nat Genet , 1995

cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs.

Chen H, Thalmann I, Adams JC, Avraham KB, Copeland NG, Jenkins NA, Beier DR, Corey DP, Thalmann R, Duyk GM.

Genomics , 1995

Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4.

Avraham KB, Levanon D, Negreanu V, Bernstein Y, Groner Y, Copeland NG, Jenkins NA.

Genomics , 1995

Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors.

Avraham KB, Fletcher C, Overdier DG, Clevidence DE, Lai E, Costa RH, Jenkins NA, Copeland NG.

Genomics , 1995

Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes.

Avraham KB, Givol D, Avivi A, Yayon A, Copeland NG, Jenkins NA.

Genomics , 1994

Cell damage by excess CuZnSOD and Down’s syndrome.

Groner Y, Elroy-Stein O, Avraham KB, Schickler M, Knobler H, Minc-Golomb D, Bar-Peled O, Yarom R, Rotshenker S.

Biomed Pharmacother , 1994

Expression of manganese superoxide dismutase is not altered in transgenic mice with elevated level of copper-zinc superoxide dismutase.

White CW, Nguyen DH, Suzuki K, Taniguchi N, Rusakow LS, Avraham KB, Groner Y.

Free Radic Biol Med , 1993

Molecular diversity of the SCG10/stathmin gene family in the mouse.

Okazaki T, Yoshida BN, Avraham KB, Wang H, Wuenschell CW, Jenkins NA, Copeland NG, Anderson DJ, Mori N.

Genomics , 1993

Murine chromosomal location of four class III POU transcription factors.

Avraham KB, Cho BC, Gilbert D, Fujii H, Okamoto K, Shimazaki T, Ito T, Shoji H, Wakamatsu Y, Kondoh H, et al.

Genomics , 1993

Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4.

Avraham KB, Prezioso VR, Chen WS, Lai E, Sladek FM, Zhong W, Darnell JE Jr, Jenkins NA, Copeland NG.

Genomics , 1992

Use of transgenic animals to study disease models: hyperoxic lung injury and ischemic acute renal failure in “high SOD” mice.

Shanley PF, White CW, Avraham KB, Groner Y, Burke TJ.

Ren Fail , 1992

Transgenic mice with expression of elevated levels of copper-zinc superoxide dismutase in the lungs are resistant to pulmonary oxygen toxicity.

White CW, Avraham KB, Shanley PF, Groner Y.

J Clin Invest , 1991

Down’s syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice.

Avraham KB, Sugarman H, Rotshenker S, Groner Y.

J Neurocytol , 1991

Down syndrome clinical symptoms are manifested in transfected cells and transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.

Groner Y, Elroy-Stein O, Avraham KB, Yarom R, Schickler M, Knobler H, Rotman G.

J Physiol (Paris) , 1990

Clinical symptoms of Down syndrome are manifested in transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.

Groner Y, Avraham KB, Schickler M, Yarom R, Knobler H.

Prog Clin Biol Res , 1990

Diminished serotonin uptake in platelets of transgenic mice with increased Cu/Zn-superoxide dismutase activity.

Schickler M, Knobler H, Avraham KB, Elroy-Stein O, Groner Y.

EMBO J , 1989

Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: a model for tongue pathology in Down’s syndrome.

Yarom R, Sapoznikov D, Havivi Y, Avraham KB, Schickler M, Groner Y.

J Neurol Sci , 1988

Down’s syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase.

Avraham KB, Schickler M, Sapoznikov D, Yarom R, Groner Y.

Cell , 1988

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

Epstein CJ, Avraham KB, Lovett M, Smith S, Elroy-Stein O, Rotman G, Bry C, Groner Y.

Proc Natl Acad Sci U S A , 1987

Overexpression of the human CuZnSOD gene in transfected cells–implication to Down syndrome.

Elroy-Stein O, Bernstein Y, Avraham KB, Dafni N, Levanon D, Danciger E, Neer A, Groner Y.

Prog Clin Biol Res , 1987

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