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Items: 1 to 50 of 147

1.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

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, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
2.

Genetics of hearing loss in the Arab population of Northern Israel.

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.

Eur J Hum Genet. 2018 Aug 23. doi: 10.1038/s41431-018-0218-z. [Epub ahead of print]

PMID:
30139988
4.

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

Schlüter T, Berger C, Rosengauer E, Fieth P, Krohs C, Ushakov K, Steel KP, Avraham KB, Hartmann AK, Felmy F, Nothwang HG.

Hum Mol Genet. 2018 Mar 1;27(5):860-874. doi: 10.1093/hmg/ddy007.

PMID:
29325119
5.

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 Aug 17;7(1):8637. doi: 10.1038/s41598-017-08320-3.

6.

Single cell analysis of the inner ear sensory organs.

Yizhar-Barnea O, Avraham KB.

Int J Dev Biol. 2017;61(3-4-5):205-213. doi: 10.1387/ijdb.160453ka. Review.

7.

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 Apr 18;18(1):305. doi: 10.1186/s12864-017-3683-9.

8.

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. 2017 May;65:69-79. doi: 10.1016/j.semcdb.2016.11.002. Epub 2016 Nov 9. Review.

9.

What's hot about otoferlin.

Avraham KB.

EMBO J. 2016 Dec 1;35(23):2502-2504. Epub 2016 Nov 7. No abstract available.

10.

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 Jul 1;594(13):3667-81. doi: 10.1113/JP272220. Epub 2016 May 27.

11.

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 Mar-Apr;37(2):162-8. doi: 10.1016/j.amjoto.2015.12.004. Epub 2015 Dec 9.

PMID:
26954875
12.

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 Feb;27(1-2):29-46. doi: 10.1007/s00335-015-9614-7. Epub 2015 Dec 11.

13.

Genetics of Hearing Loss: Syndromic.

Koffler T, Ushakov K, Avraham KB.

Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. Epub 2015 Oct 9. Review.

14.

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 Nov 1;395(1):62-72. doi: 10.1016/j.ydbio.2014.08.029. Epub 2014 Sep 10.

15.

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

Banai K, Avraham KB.

J Basic Clin Physiol Pharmacol. 2014 Sep;25(3):267-8. doi: 10.1515/jbcpp-2014-0077. No abstract available.

PMID:
25205708
16.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

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

J Basic Clin Physiol Pharmacol. 2014 Sep;25(3):289-92. doi: 10.1515/jbcpp-2014-0053.

17.

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 Jan 1;276:76-83. doi: 10.1016/j.bbr.2014.06.046. Epub 2014 Jun 29.

PMID:
24983660
18.

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 Jun 18;15:484. doi: 10.1186/1471-2164-15-484.

19.

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 Aug;25(7-8):304-16. doi: 10.1007/s00335-014-9515-1. Epub 2014 Apr 24.

20.

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 Jun 15;23(12):3138-46. doi: 10.1093/hmg/ddu023. Epub 2014 Jan 26.

21.

MicroRNAs in sensorineural diseases of the ear.

Ushakov K, Rudnicki A, Avraham KB.

Front Mol Neurosci. 2013 Dec 23;6:52. doi: 10.3389/fnmol.2013.00052. Review.

22.

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 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.

23.

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 Mar;309:124-35. doi: 10.1016/j.heares.2013.11.009. Epub 2013 Dec 12.

24.

Rescue from hearing loss in Usher's syndrome.

Avraham KB.

N Engl J Med. 2013 Oct 31;369(18):1758-60. doi: 10.1056/NEJMcibr1311048. No abstract available.

PMID:
24171523
25.

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 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9.

26.

Advances in genetic diagnostics for hereditary hearing loss.

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

J Basic Clin Physiol Pharmacol. 2013;24(3):165-70. doi: 10.1515/jbcpp-2013-0063. Review.

PMID:
24006325
27.

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

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

J Clin Invest. 2013 Sep;123(9):3712-5. doi: 10.1172/JCI69651. Epub 2013 Aug 27.

28.

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

Avraham KB.

J Basic Clin Physiol Pharmacol. 2013;24(3):163-4. doi: 10.1515/jbcpp-2013-0108. No abstract available.

PMID:
23959661
29.

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

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.

J Biol Chem. 2013 Sep 6;288(36):25865-79. doi: 10.1074/jbc.M113.490508. Epub 2013 Jul 26.

30.

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 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8.

31.

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 Feb;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25.

32.

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;7(11):e49503. doi: 10.1371/journal.pone.0049503. Epub 2012 Nov 12.

33.

Genomic advances for gene discovery in hereditary hearing loss.

Avraham KB, Kanaan M.

J Basic Clin Physiol Pharmacol. 2012 Sep 7;23(3):93-7. doi: 10.1515/jbcpp-2012-0033. Review.

PMID:
22962211
34.

microRNAs: the art of silencing in the ear.

Rudnicki A, Avraham KB.

EMBO Mol Med. 2012 Sep;4(9):849-59. doi: 10.1002/emmm.201100922. Epub 2012 Jun 29. Review.

35.

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

Brownstein Z, Bhonker Y, Avraham KB.

Genome Biol. 2012 May 29;13(5):245. doi: 10.1186/gb-2012-13-5-245. Review.

36.

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

Dror AA, Brownstein Z, Avraham KB.

Cell Physiol Biochem. 2011;28(3):535-44. doi: 10.1159/000335163. Epub 2011 Nov 18. Review.

37.

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;28(3):477-84. doi: 10.1159/000335109. Epub 2011 Nov 18.

38.

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 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89.

39.

Hereditary hearing loss: from human mutation to mechanism.

Lenz DR, Avraham KB.

Hear Res. 2011 Nov;281(1-2):3-10. doi: 10.1016/j.heares.2011.05.021. Epub 2011 Jun 6. Review.

PMID:
21664957
40.

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 Apr 5;6(4):e18195. doi: 10.1371/journal.pone.0018195.

41.

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

Raviv D, Dror AA, Avraham KB.

Ann N Y Acad Sci. 2010 Dec;1214:168-79. doi: 10.1111/j.1749-6632.2010.05868.x. Review.

42.

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 Apr;22(3-4):170-7. doi: 10.1007/s00335-010-9310-6. Epub 2010 Dec 17.

PMID:
21165622
43.

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 Jan;39(Database issue):D793-9. doi: 10.1093/nar/gkq1167. Epub 2010 Nov 19.

44.

Hearing impairment: a panoply of genes and functions.

Dror AA, Avraham KB.

Neuron. 2010 Oct 21;68(2):293-308. doi: 10.1016/j.neuron.2010.10.011. Review.

45.

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

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

Nat Genet. 2010 Aug;42(8):641-5. doi: 10.1038/ng0810-641.

PMID:
20664644
46.

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 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17.

47.

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 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.

48.

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 Jul;38(Web Server issue):W523-8. doi: 10.1093/nar/gkq528. Epub 2010 Jun 11. Erratum in: Nucleic Acids Res. 2010 Nov 1;38(21):7869.

49.

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 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14.

PMID:
20472657
50.

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, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB.

J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4.

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