Karen B. Avraham - Publications

Affiliations: 
Tel Aviv University, Tel Aviv-Yafo, Tel Aviv District, Israel 
Area:
genetics, hearing loss

139 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Hahn R, Avraham KB. Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges. Audiology Research. 13: 952-966. PMID 38131808 DOI: 10.3390/audiolres13060083  0.364
2023 Drabkin M, Jean MM, Noy Y, Halperin D, Yogev Y, Wormser O, Proskorovski-Ohayon R, Dolgin V, Levaot N, Brumfeld V, Ovadia S, Kishner M, Kazenell U, Avraham KB, Shelef I, et al. mutation causes human otosclerosis and a similar phenotype in mice. Journal of Medical Genetics. PMID 37399313 DOI: 10.1136/jmg-2023-109264  0.32
2022 Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, et al. A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. Human Genetics. PMID 36445457 DOI: 10.1007/s00439-022-02506-0  0.322
2022 Taiber S, Gwilliam K, Hertzano R, Avraham KB. The Genomics of Auditory Function and Disease. Annual Review of Genomics and Human Genetics. PMID 35667089 DOI: 10.1146/annurev-genom-121321-094136  0.353
2022 Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, ... ... Avraham KB, et al. Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Human Genetics. PMID 35278131 DOI: 10.1007/s00439-022-02444-x  0.355
2021 Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, ... ... Avraham KB, et al. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European Journal of Human Genetics : Ejhg. PMID 33398081 DOI: 10.1038/s41431-020-00790-w  0.319
2020 Taiber S, Cohen R, Yizhar-Barnea O, Sprinzak D, Holt JR, Avraham KB. Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness. Embo Molecular Medicine. e13259. PMID 33350593 DOI: 10.15252/emmm.202013259  0.414
2020 Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, ... ... Avraham KB, et al. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clinical Genetics. 98: 353-364. PMID 33111345 DOI: 10.1111/Cge.13817  0.508
2020 Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Barak EC, Taiber S, Khayat M, Avraham KB, Shalev SA. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. European Journal of Human Genetics. PMID 32939038 DOI: 10.1038/S41431-020-00724-6  0.497
2020 Nadar-Ponniah PT, Taiber S, Caspi M, Koffler-Brill T, Dror AA, Siman-Tov R, Rubinstein M, Padmanabhan K, Luxenburg C, Lang RA, Avraham KB, Rosin-Arbesfeld R. Striatin Is Required for Hearing and Affects Inner Hair Cells and Ribbon Synapses. Frontiers in Cell and Developmental Biology. 8: 615. PMID 32766247 DOI: 10.3389/Fcell.2020.00615  0.431
2020 Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, et al. Genomic analysis of inherited hearing loss in the Palestinian population. Proceedings of the National Academy of Sciences of the United States of America. PMID 32747562 DOI: 10.1073/Pnas.2009628117  0.503
2020 Ben-Dov T, Brownstein Z, Nageris B, Avraham KB. [INNOVATIONS IN RESEARCH OF HEREDITARY DEAFNESS]. Harefuah. 159: 117-122. PMID 32048492  0.321
2020 Dror AA, Taiber S, Sela E, Hendzel O, Avraham KB. A mouse model for benign paroxysmal positional vertigo (BPPV) with genetic predisposition for displaced otoconia. Genes, Brain, and Behavior. e12635. PMID 31898392 DOI: 10.1111/Gbb.12635  0.429
2019 Taiber S, Avraham KB. Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges. Neuroscience Letters. 713: 134527. PMID 31586696 DOI: 10.1016/J.Neulet.2019.134527  0.419
2019 Hacohen-Kleiman G, Yizhar-Barnea O, Touloumi O, Lagoudaki R, Avraham KB, Grigoriadis N, Gozes I. Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain. Neurochemical Research. PMID 30659505 DOI: 10.1007/S11064-019-02723-6  0.431
2018 Yizhar-Barnea O, Valensisi C, Jayavelu ND, Kishore K, Andrus C, Koffler-Brill T, Ushakov K, Perl K, Noy Y, Bhonker Y, Pelizzola M, Hawkins RD, Avraham KB. DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium. Scientific Reports. 8: 17348. PMID 30478432 DOI: 10.1038/S41598-018-35587-X  0.398
2018 Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, ... ... Avraham KB, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation. 39: 1593-1613. PMID 30311386 DOI: 10.1002/Humu.23630  0.365
2018 Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA. Genetics of hearing loss in the Arab population of Northern Israel. European Journal of Human Genetics : Ejhg. PMID 30139988 DOI: 10.1038/S41431-018-0218-Z  0.466
2018 Perl K, Shamir R, Avraham KB. Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness. Human Genomics. 12: 30. PMID 29929553 DOI: 10.1186/S40246-018-0161-7  0.444
2018 Schlüter T, Berger C, Rosengauer E, Fieth P, Krohs C, Ushakov K, Steel KP, Avraham KB, Hartmann A, Felmy F, Nothwang HG. miR-96 is required for normal development of the auditory hindbrain. Human Molecular Genetics. PMID 29325119 DOI: 10.1093/Hmg/Ddy007  0.387
2017 Ushakov K, Koffler-Brill T, Rom A, Perl K, Ulitsky I, Avraham KB. Genome-wide identification and expression profiling of long non-coding RNAs in auditory and vestibular systems. Scientific Reports. 7: 8637. PMID 28819115 DOI: 10.1038/S41598-017-08320-3  0.36
2017 Yizhar-Barnea O, Avraham KB. Single cell analysis of the inner ear sensory organs. The International Journal of Developmental Biology. 61: 205-213. PMID 28621418 DOI: 10.1387/Ijdb.160453Ka  0.364
2016 Doetzlhofer A, Avraham KB. Insights into inner ear-specific gene regulation: epigenetics and non-coding RNAs in inner ear development and regeneration. Seminars in Cell & Developmental Biology. PMID 27836639 DOI: 10.1016/J.Semcdb.2016.11.002  0.378
2016 Avraham KB. What's hot about otoferlin. The Embo Journal. 35: 2502-2504. PMID 27821677 DOI: 10.15252/Embj.201695881  0.471
2016 Marcotti W, Corns LF, Goodyear RJ, Rzadzinska AK, Avraham KB, Steel KP, Richardson GP, Kros CJ. The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI. The Journal of Physiology. PMID 27111754 DOI: 10.1113/Jp272220  0.378
2016 Attias J, Hod R, Raveh E, Mizrachi A, Avraham KB, Lenz DR, Nageris BI. Hearing loss patterns after cochlear implantation via the round window in an animal model. American Journal of Otolaryngology. 37: 162-8. PMID 26954875 DOI: 10.1016/J.Amjoto.2015.12.004  0.365
2015 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. The GPSM2/LGN GoLoco motifs are essential for hearing. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 26662512 DOI: 10.1007/S00335-015-9614-7  0.474
2015 Koffler T, Ushakov K, Avraham KB. Genetics of Hearing Loss: Syndromic. Otolaryngologic Clinics of North America. 48: 1041-61. PMID 26443487 DOI: 10.1016/J.Otc.2015.07.007  0.405
2015 Koffler T, Ushakov K, Avraham KB. Genetics of Hearing Loss: Syndromic Otolaryngologic Clinics of North America. 48: 1041-1061. DOI: 10.1016/j.otc.2015.07.007  0.302
2015 Shalit E, Avraham KB. Genetics of Hearing Loss Otolaryngologic Clinics of North America. 48: 9-47. DOI: 10.1007/978-0-387-72561-1_2  0.41
2014 Jones C, Qian D, Kim SM, Li S, Ren D, Knapp L, Sprinzak D, Avraham KB, Matsuzaki F, Chi F, Chen P. Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear. Developmental Biology. 395: 62-72. PMID 25218921 DOI: 10.1016/J.Ydbio.2014.08.029  0.408
2014 Sokolov M, Brownstein Z, Frydman M, Avraham KB. Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness. Journal of Basic and Clinical Physiology and Pharmacology. 25: 289-92. PMID 25153233 DOI: 10.1515/Jbcpp-2014-0053  0.474
2014 Rudnicki A, Isakov O, Ushakov K, Shivatzki S, Weiss I, Friedman LM, Shomron N, Avraham KB. Next-generation sequencing of small RNAs from inner ear sensory epithelium identifies microRNAs and defines regulatory pathways. Bmc Genomics. 15: 484. PMID 24942165 DOI: 10.1186/1471-2164-15-484  0.344
2014 Dror AA, Lenz DR, Shivatzki S, Cohen K, Ashur-Fabian O, Avraham KB. Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 25: 304-16. PMID 24760582 DOI: 10.1007/S00335-014-9515-1  0.366
2014 Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, Shohat M. The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry. Genetic Testing and Molecular Biomarkers. 18: 123-6. PMID 24367894 DOI: 10.1089/Gtmb.2013.0328  0.445
2014 Takada Y, Beyer LA, Swiderski DL, O'Neal AL, Prieskorn DM, Shivatzki S, Avraham KB, Raphael Y. Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy. Hearing Research. 309: 124-35. PMID 24333301 DOI: 10.1016/J.Heares.2013.11.009  0.469
2014 Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB. Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. European Journal of Human Genetics : Ejhg. 22: 768-75. PMID 24105371 DOI: 10.1038/Ejhg.2013.232  0.508
2014 Bhonker Y, Ushakov K, Avraham KB. Human Gene Discovery for Understanding Development of the Inner Ear and Hearing Loss Development of Auditory and Vestibular Systems: Fourth Edition. 107-127. DOI: 10.1016/B978-0-12-408088-1.00004-X  0.375
2013 Ushakov K, Rudnicki A, Avraham KB. MicroRNAs in sensorineural diseases of the ear. Frontiers in Molecular Neuroscience. 6: 52. PMID 24391537 DOI: 10.3389/Fnmol.2013.00052  0.419
2013 Avraham KB. Rescue from hearing loss in Usher's syndrome. The New England Journal of Medicine. 369: 1758-60. PMID 24171523 DOI: 10.1056/Nejmcibr1311048  0.436
2013 Idan N, Brownstein Z, Shivatzki S, Avraham KB. Advances in genetic diagnostics for hereditary hearing loss. Journal of Basic and Clinical Physiology and Pharmacology. 24: 165-70. PMID 24006325 DOI: 10.1515/Jbcpp-2013-0063  0.495
2013 Higashi T, Lenz DR, Furuse M, Avraham KB. A "Tric" to tighten cell-cell junctions in the cochlea for hearing. The Journal of Clinical Investigation. 123: 3712-5. PMID 23979155 DOI: 10.1172/Jci69651  0.486
2013 Ehmann H, Hartwich H, Salzig C, Hartmann N, Clément-Ziza M, Ushakov K, Avraham KB, Bininda-Emonds OR, Hartmann AK, Lang P, Friauf E, Nothwang HG. Time-dependent gene expression analysis of the developing superior olivary complex. The Journal of Biological Chemistry. 288: 25865-79. PMID 23893414 DOI: 10.1074/Jbc.M113.490508  0.389
2013 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. Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Human Mutation. 34: 1102-10. PMID 23606368 DOI: 10.1002/Humu.22339  0.47
2013 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. The LINC complex is essential for hearing. The Journal of Clinical Investigation. 123: 740-50. PMID 23348741 DOI: 10.1172/Jci66911  0.516
2012 Rosengauer E, Hartwich H, Hartmann AM, Rudnicki A, Satheesh SV, Avraham KB, Nothwang HG. Egr2::cre mediated conditional ablation of dicer disrupts histogenesis of mammalian central auditory nuclei. Plos One. 7: e49503. PMID 23152916 DOI: 10.1371/Journal.Pone.0049503  0.378
2012 Avraham KB, Kanaan M. Genomic advances for gene discovery in hereditary hearing loss. Journal of Basic and Clinical Physiology and Pharmacology. 23: 93-7. PMID 22962211 DOI: 10.1515/Jbcpp-2012-0033  0.452
2012 Brownstein Z, Bhonker Y, Avraham KB. High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biology. 13: 245. PMID 22647651 DOI: 10.1186/Gb-2012-13-5-245  0.448
2012 Friedman LM, Elkan-Miller T, Rudnicki A, Dror AA, Avraham KB. MicroRNAs in the inner ear: Implications for hearing loss Usher Syndrome: Pathogenesis, Diagnosis and Therapy. 179-197.  0.329
2011 Dror AA, Brownstein Z, Avraham KB. Integration of human and mouse genetics reveals pendrin function in hearing and deafness. Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology. 28: 535-44. PMID 22116368 DOI: 10.1159/000335163  0.475
2011 Dossena S, Nofziger C, Brownstein Z, Kanaan M, Avraham KB, Paulmichl M. Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology. 28: 477-84. PMID 22116360 DOI: 10.1159/000335109  0.408
2011 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, ... ... Avraham KB, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biology. 12: R89. PMID 21917145 DOI: 10.1186/Gb-2011-12-9-R89  0.439
2011 Lenz DR, Avraham KB. Hereditary hearing loss: from human mutation to mechanism. Hearing Research. 281: 3-10. PMID 21664957 DOI: 10.1016/J.Heares.2011.05.021  0.536
2011 Walsh VL, Raviv D, Dror AA, Shahin H, Walsh T, Kanaan MN, Avraham KB, King MC. A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 170-7. PMID 21165622 DOI: 10.1007/S00335-010-9310-6  0.5
2010 Raviv D, Dror AA, Avraham KB. Hearing loss: a common disorder caused by many rare alleles. Annals of the New York Academy of Sciences. 1214: 168-79. PMID 21175685 DOI: 10.1111/J.1749-6632.2010.05868.X  0.488
2010 Dror AA, Avraham KB. Hearing impairment: a panoply of genes and functions. Neuron. 68: 293-308. PMID 20955936 DOI: 10.1016/J.Neuron.2010.10.011  0.468
2010 Ozçelik T, Kanaan M, Avraham KB, Yannoukakos D, Mégarbané A, Tadmouri GO, Middleton L, Romeo G, King MC, Levy-Lahad E. Collaborative genomics for human health and cooperation in the Mediterranean region. Nature Genetics. 42: 641-5. PMID 20664644 DOI: 10.1038/Ng0810-641  0.302
2010 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, ... ... Avraham KB, et al. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. American Journal of Human Genetics. 87: 101-9. PMID 20602916 DOI: 10.1016/J.Ajhg.2010.05.011  0.499
2010 Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. American Journal of Human Genetics. 87: 90-4. PMID 20602914 DOI: 10.1016/J.Ajhg.2010.05.010  0.485
2010 Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T. Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. Journal of Medical Genetics. 47: 643-5. PMID 20472657 DOI: 10.1136/Jmg.2009.075697  0.468
2010 Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB. Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation. The Journal of Biological Chemistry. 285: 21724-35. PMID 20442411 DOI: 10.1074/Jbc.M110.120188  0.358
2010 Atar O, Avraham KB. Anti-apoptotic factor z-Val-Ala-Asp-fluoromethylketone promotes the survival of cochlear hair cells in a mouse model for human deafness. Neuroscience. 168: 851-7. PMID 20394804 DOI: 10.1016/J.Neuroscience.2010.04.011  0.408
2010 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. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. European Journal of Human Genetics : Ejhg. 18: 407-13. PMID 19888295 DOI: 10.1038/Ejhg.2009.190  0.411
2010 Lenz DR, Dror AA, Wekselman G, Fuchs H, De Angelis MH, Avraham KB. The inner ear phenotype of Volchok (Vlk): An ENU-induced mouse model for CHARGE syndrome Audiological Medicine. 8: 110-119. DOI: 10.3109/1651386X.2010.490039  0.494
2009 Avraham KB. Noise stresses the junctions to deaf. Embo Molecular Medicine. 1: 85-7. PMID 20049707 DOI: 10.1002/Emmm.200900016  0.306
2009 Friedman LM, Avraham KB. MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 20: 581-603. PMID 19876605 DOI: 10.1007/S00335-009-9230-5  0.503
2009 Dror AA, Avraham KB. Hearing loss: mechanisms revealed by genetics and cell biology. Annual Review of Genetics. 43: 411-37. PMID 19694516 DOI: 10.1146/Annurev-Genet-102108-134135  0.483
2009 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, Västinsalo H, et al. CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. Plos Genetics. 5: e1000607. PMID 19680541 DOI: 10.1371/Journal.Pgen.1000607  0.398
2009 Avni R, Elkan T, Dror AA, Shefer S, Eilam D, Avraham KB, Mintz M. Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety. Behavioural Brain Research. 202: 210-7. PMID 19463703 DOI: 10.1016/J.Bbr.2009.03.033  0.33
2009 Brownstein Z, Avraham KB. Deafness genes in Israel: implications for diagnostics in the clinic. Pediatric Research. 66: 128-34. PMID 19390476 DOI: 10.1203/Pdr.0B013E3181Aabd7F  0.493
2008 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. A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells. Plos Genetics. 4: e1000207. PMID 18833301 DOI: 10.1371/Journal.Pgen.1000207  0.441
2008 Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB. A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum. Archives of Otolaryngology--Head & Neck Surgery. 134: 403-7. PMID 18427006 DOI: 10.1001/Archotol.134.4.403  0.501
2007 Friedman LM, Dror AA, Avraham KB. Mouse models to study inner ear development and hereditary hearing loss. The International Journal of Developmental Biology. 51: 609-31. PMID 17891721 DOI: 10.1387/Ijdb.072365Lf  0.511
2007 Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB. Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. The European Journal of Neuroscience. 25: 999-1005. PMID 17331196 DOI: 10.1111/J.1460-9568.2007.05332.X  0.468
2006 Fleishman SJ, Sabag AD, Ophir E, Avraham KB, Ben-Tal N. The structural context of disease-causing mutations in gap junctions. The Journal of Biological Chemistry. 281: 28958-63. PMID 16864573 DOI: 10.1074/Jbc.M605764200  0.344
2006 Taitelbaum-Swead R, Brownstein Z, Muchnik C, Kishon-Rabin L, Kronenberg J, Megirov L, Frydman M, Hildesheimer M, Avraham KB. Connexin-associated deafness and speech perception outcome of cochlear implantation. Archives of Otolaryngology--Head & Neck Surgery. 132: 495-500. PMID 16702564 DOI: 10.1001/Archotol.132.5.495  0.329
2006 Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB. Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Archives of Otolaryngology--Head & Neck Surgery. 132: 416-24. PMID 16618911 DOI: 10.1001/Archotol.132.4.416  0.383
2006 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. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Human Genomics. 2: 203-11. PMID 16460646 DOI: 10.1186/1479-7364-2-4-203  0.482
2006 Fiolka K, Hertzano R, Vassen L, Zeng H, Hermesh O, Avraham KB, Dührsen U, Möröy T. Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development. Embo Reports. 7: 326-33. PMID 16397623 DOI: 10.1038/Sj.Embor.7400618  0.346
2006 Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. American Journal of Human Genetics. 78: 144-52. PMID 16385458 DOI: 10.1086/499495  0.457
2006 Brownstein Z, Avraham KB. Future trends and potential for treatment of sensorineural hearing loss Seminars in Hearing. 27: 193-204. DOI: 10.1055/S-2006-947286  0.382
2005 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, ... ... Avraham KB, et al. GJB2 mutations and degree of hearing loss: a multicenter study. American Journal of Human Genetics. 77: 945-57. PMID 16380907 DOI: 10.1086/497996  0.466
2005 Sabag AD, Dagan O, Avraham KB. Connexins in hearing loss: a comprehensive overview. Journal of Basic and Clinical Physiology and Pharmacology. 16: 101-16. PMID 16285463 DOI: 10.1515/Jbcpp.2005.16.2-3.101  0.531
2005 Atar O, Avraham KB. Therapeutics of hearing loss: expectations vs reality. Drug Discovery Today. 10: 1323-30. PMID 16214677 DOI: 10.1016/S1359-6446(05)03618-4  0.487
2005 del Castillo FJ, Rodríguez-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, ... ... Avraham KB, et al. 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. Journal of Medical Genetics. 42: 588-94. PMID 15994881 DOI: 10.1136/Jmg.2004.028324  0.51
2004 Clough RL, Sud R, Davis-Silberman N, Hertzano R, Avraham KB, Holley M, Dawson SJ. Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity. Biochemical and Biophysical Research Communications. 324: 372-81. PMID 15465029 DOI: 10.1016/J.Bbrc.2004.09.074  0.383
2004 Rhodes CR, Hertzano R, Fuchs H, Bell RE, de Angelis MH, Steel KP, Avraham KB. A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 686-97. PMID 15389316 DOI: 10.1007/S00335-004-2344-X  0.51
2004 Seiler C, Ben-David O, Sidi S, Hendrich O, Rusch A, Burnside B, Avraham KB, Nicolson T. Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Developmental Biology. 272: 328-38. PMID 15282151 DOI: 10.1016/J.Ydbio.2004.05.004  0.447
2004 Hertzano R, Montcouquiol M, Rashi-Elkeles S, Elkon R, Yücel R, Frankel WN, Rechavi G, Möröy T, Friedman TB, Kelley MW, Avraham KB. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Human Molecular Genetics. 13: 2143-53. PMID 15254021 DOI: 10.1093/Hmg/Ddh218  0.495
2004 Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 424-32. PMID 15181535 DOI: 10.1007/S00335-004-2334-Z  0.442
2004 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. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric Research. 55: 995-1000. PMID 15028842 DOI: 10.1203/01.Pdr.0000125258.58267.56  0.477
2003 Weiss S, Gottfried I, Mayrose I, Khare SL, Xiang M, Dawson SJ, Avraham KB. The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Molecular and Cellular Biology. 23: 7957-64. PMID 14585957 DOI: 10.1128/Mcb.23.22.7957-7964.2003  0.442
2003 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, ... ... Avraham KB, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. American Journal of Human Genetics. 73: 1452-8. PMID 14571368 DOI: 10.1086/380205  0.468
2003 Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. Journal of Medical Genetics. 40: 767-72. PMID 14569126 DOI: 10.1136/Jmg.40.10.767  0.451
2003 Avraham KB, Raphael Y. Prospects for gene therapy in hearing loss. Journal of Basic and Clinical Physiology and Pharmacology. 14: 77-83. PMID 14558724 DOI: 10.1515/Jbcpp.2003.14.2.77  0.412
2003 Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Human Molecular Genetics. 12: 2797-805. PMID 12966030 DOI: 10.1093/Hmg/Ddg308  0.482
2003 Avraham KB. Mouse models for deafness: lessons for the human inner ear and hearing loss. Ear and Hearing. 24: 332-41. PMID 12923424 DOI: 10.1097/01.Aud.0000079840.96472.Db  0.504
2003 RamShankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, Avraham KB, Anand A. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. Journal of Medical Genetics. 40: e68. PMID 12746422 DOI: 10.1136/Jmg.40.5.E68  0.428
2003 Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. American Journal of Human Genetics. 72: 1571-7. PMID 12736868 DOI: 10.1086/375654  0.513
2003 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. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. The New England Journal of Medicine. 348: 1664-70. PMID 12711741 DOI: 10.1056/Nejmoa021502  0.36
2002 Goldfarb A, Avraham KB. Genetics of deafness: recent advances and clinical implications. Journal of Basic and Clinical Physiology and Pharmacology. 13: 75-88. PMID 16411422 DOI: 10.1515/Jbcpp.2002.13.2.75  0.417
2002 Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends in Molecular Medicine. 8: 447-51. PMID 12223317 DOI: 10.1016/S1471-4914(02)02388-2  0.402
2002 Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, et al. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. European Journal of Human Genetics : Ejhg. 10: 339-50. PMID 12080385 DOI: 10.1038/Sj.Ejhg.5200831  0.439
2002 Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB. From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proceedings of the National Academy of Sciences of the United States of America. 99: 7518-23. PMID 12032315 DOI: 10.1073/Pnas.102091699  0.436
2002 Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Human Molecular Genetics. 11: 1311-6. PMID 12019212 DOI: 10.1093/Hmg/11.11.1311  0.423
2002 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. 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. Proceedings of the National Academy of Sciences of the United States of America. 99: 6240-5. PMID 11972037 DOI: 10.1073/Pnas.082515999  0.387
2002 Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Human Genetics. 110: 284-9. PMID 11935342 DOI: 10.1007/S00439-001-0674-2  0.478
2002 Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nature Genetics. 30: 257-8. PMID 11850623 DOI: 10.1038/Ng848  0.53
2001 Avraham KB. Inherited connexin mutations associated with hearing loss. Cell Communication & Adhesion. 8: 419-24. PMID 12064629 DOI: 10.3109/15419060109080764  0.51
2001 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. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American Journal of Human Genetics. 69: 635-40. PMID 11468689 DOI: 10.1086/323156  0.492
2001 López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Human Molecular Genetics. 10: 947-52. PMID 11309368 DOI: 10.1093/Hmg/10.9.947  0.384
2001 Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. The Notch ligand Jagged1 is required for inner ear sensory development. Proceedings of the National Academy of Sciences of the United States of America. 98: 3873-8. PMID 11259677 DOI: 10.1073/Pnas.071496998  0.396
2001 Avraham KB. Positional-candidate cloning of genes from mouse mutants. Methods in Molecular Biology (Clifton, N.J.). 158: 369-79. PMID 11236668 DOI: 10.1385/1-59259-220-1:369  0.356
2001 Avraham KB. Modifying with mitochondria. Nature Genetics. 27: 136-7. PMID 11175774 DOI: 10.1038/84743  0.381
2000 Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene. 261: 269-75. PMID 11167014 DOI: 10.1016/S0378-1119(00)00535-7  0.444
2000 Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. Journal of Basic and Clinical Physiology and Pharmacology. 11: 181-91. PMID 11041382 DOI: 10.1515/Jbcpp.2000.11.3.181  0.529
2000 Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Human Genetics. 106: 50-7. PMID 10982182 DOI: 10.1007/S004399900214  0.501
2000 Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, ... ... Avraham K, et al. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nature Genetics. 25: 444-7. PMID 10932192 DOI: 10.1038/78146  0.351
2000 Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB. Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. Archives of Otolaryngology--Head & Neck Surgery. 126: 633-7. PMID 10807331 DOI: 10.1001/Archotol.126.5.633  0.473
1999 Kiernan AE, Zalzman M, Fuchs H, Hrabe de Angelis M, Balling R, Steel KP, Avraham KB. Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival. Journal of Neurocytology. 28: 969-85. PMID 10900098 DOI: 10.1023/A:1007090626294  0.482
1999 Friedman TB, Sellers JR, Avraham KB. Unconventional myosins and the genetics of hearing loss. American Journal of Medical Genetics. 89: 147-57. PMID 10704189 DOI: 10.1002/(Sici)1096-8628(19990924)89:3<147::Aid-Ajmg5>3.0.Co;2-6  0.555
1999 Ben-David O, Avraham KB. The genetics of hearing loss. Journal of Basic and Clinical Physiology and Pharmacology. 10: 163-71. PMID 10529903 DOI: 10.1515/Jbcpp.1999.10.3.163  0.41
1999 Self T, Sobe T, Copeland NG, Jenkins NA, Avraham KB, Steel KP. Role of myosin VI in the differentiation of cochlear hair cells. Developmental Biology. 214: 331-41. PMID 10525338 DOI: 10.1006/Dbio.1999.9424  0.387
1999 Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, Bonné-Tamir B, Shohat M. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. American Journal of Medical Genetics. 86: 499-500. PMID 10508996 DOI: 10.1002/(Sici)1096-8628(19991029)86:5<499::Aid-Ajmg19>3.0.Co;2-O  0.388
1998 Avraham KB. Hear come more genes! Nature Medicine. 4: 1238-9. PMID 9809541 DOI: 10.1038/3215  0.446
1998 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, et al. Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally. Immunity. 9: 267-76. PMID 9729047 DOI: 10.1016/S1074-7613(00)80609-3  0.309
1998 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. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science (New York, N.Y.). 279: 1950-4. PMID 9506947 DOI: 10.1126/Science.279.5358.1950  0.441
1997 Avraham KB. Deafness. Sounds from the cochlea. Nature. 390: 559-60. PMID 9403680 DOI: 10.1038/37489  0.5
1997 Avraham KB, Hasson T, Sobe T, Balsara B, Testa JR, Skvorak AB, Morton CC, Copeland NG, Jenkins NA. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. Human Molecular Genetics. 6: 1225-31. PMID 9259267 DOI: 10.1093/Hmg/6.8.1225  0.455
1996 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. Mapping of unconventional myosins in mouse and human. Genomics. 36: 431-9. PMID 8884266 DOI: 10.1006/Geno.1996.0488  0.308
1996 Pecker I, Avraham KB, Gilbert DJ, Savitsky K, Rotman G, Harnik R, Fukao T, Schröck E, Hirotsune S, Tagle DA, Collins FS, Wynshaw-Boris A, Ried T, Copeland NG, Jenkins NA, et al. Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Genomics. 35: 39-45. PMID 8661102 DOI: 10.1006/Geno.1996.0320  0.337
1995 Avraham KB, Levanon D, Negreanu V, Bernstein Y, Groner Y, Copeland NG, Jenkins NA. Mapping of the mouse homolog of the human runt domain gene, AML2, to the distal region of mouse chromosome 4. Genomics. 25: 603-5. PMID 7790005 DOI: 10.1016/0888-7543(95)80073-U  0.305
1995 Avraham KB, Fletcher C, Overdier DG, Clevidence DE, Lai E, Costa RH, Jenkins NA, Copeland NG. Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors. Genomics. 25: 388-93. PMID 7789972 DOI: 10.1016/0888-7543(95)80038-N  0.363
1995 Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nature Genetics. 11: 369-75. PMID 7493015 DOI: 10.1038/Ng1295-369  0.492
1994 Groner Y, Elroy-Stein O, Avraham KB, Schickler M, Knobler H, Minc-Golomb D, Bar-Peled O, Yarom R, Rotshenker S. Cell damage by excess CuZnSOD and Down's syndrome. Biomedicine & Pharmacotherapy = Biomã©Decine & Pharmacothã©Rapie. 48: 231-40. PMID 7999984 DOI: 10.1016/0753-3322(94)90138-4  0.406
1992 Avraham KB, Prezioso VR, Chen WS, Lai E, Sladek FM, Zhong W, Darnell JE, Jenkins NA, Copeland NG. Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4. Genomics. 13: 264-8. PMID 1612587 DOI: 10.1016/0888-7543(92)90241-J  0.319
1991 Avraham KB, Sugarman H, Rotshenker S, Groner Y. Down's syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice. Journal of Neurocytology. 20: 208-15. PMID 1828079 DOI: 10.1007/Bf01186993  0.331
1988 Avraham KB, Schickler M, Sapoznikov D, Yarom R, Groner Y. Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase. Cell. 54: 823-9. PMID 2970304 DOI: 10.1016/S0092-8674(88)91153-1  0.318
1987 Epstein CJ, Avraham KB, Lovett M, Smith S, Elroy-Stein O, Rotman G, Bry C, Groner Y. Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome. Proceedings of the National Academy of Sciences of the United States of America. 84: 8044-8. PMID 2960971 DOI: 10.1073/Pnas.84.22.8044  0.32
Show low-probability matches.