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Items: 1 to 20 of 27

1.

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T.

Eur Arch Otorhinolaryngol. 2017 Oct;274(10):3619-3625. doi: 10.1007/s00405-017-4699-0. Epub 2017 Aug 18.

2.

Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.

Mauriac SA, Hien YE, Bird JE, Carvalho SD, Peyroutou R, Lee SC, Moreau MM, Blanc JM, Geyser A, Medina C, Thoumine O, Beer-Hammer S, Friedman TB, Rüttiger L, Forge A, Nürnberg B, Sans N, Montcouquiol M.

Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907.

3.

Disruption of SorCS2 reveals differences in the regulation of stereociliary bundle formation between hair cell types in the inner ear.

Forge A, Taylor RR, Dawson SJ, Lovett M, Jagger DJ.

PLoS Genet. 2017 Mar 27;13(3):e1006692. doi: 10.1371/journal.pgen.1006692. eCollection 2017 Mar.

4.

Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV.

György B, Sage C, Indzhykulian AA, Scheffer DI, Brisson AR, Tan S, Wu X, Volak A, Mu D, Tamvakologos PI, Li Y, Fitzpatrick Z, Ericsson M, Breakefield XO, Corey DP, Maguire CA.

Mol Ther. 2017 Feb 1;25(2):379-391. doi: 10.1016/j.ymthe.2016.12.010. Epub 2017 Jan 9.

PMID:
28082074
5.

MyTH4-FERM myosins in the assembly and maintenance of actin-based protrusions.

Weck ML, Grega-Larson NE, Tyska MJ.

Curr Opin Cell Biol. 2017 Feb;44:68-78. doi: 10.1016/j.ceb.2016.10.002. Epub 2016 Nov 9. Review.

PMID:
27836411
7.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB.

Hum Mutat. 2016 Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21.

8.

The Stereociliary Paracrystal Is a Dynamic Cytoskeletal Scaffold In Vivo.

Hwang P, Chou SW, Chen Z, McDermott BM Jr.

Cell Rep. 2015 Nov 17;13(7):1287-1294. doi: 10.1016/j.celrep.2015.10.003. Epub 2015 Nov 5.

9.

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing.

Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE.

Elife. 2015 Aug 24;4. doi: 10.7554/eLife.08627.

10.

Where hearing starts: the development of the mammalian cochlea.

Basch ML, Brown RM 2nd, Jen HI, Groves AK.

J Anat. 2016 Feb;228(2):233-54. doi: 10.1111/joa.12314. Epub 2015 Jun 5. Review.

11.

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S.

PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar.

12.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.

PLoS One. 2014 Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. eCollection 2014.

13.

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Tabatabaiefar M, Alasti F, Zohour MM, Shariati L, Farrokhi E, Farhud D, Camp G, Noori-Daloii M, Chaleshtori MH.

Iran J Public Health. 2011;40(2):34-48. Epub 2011 Jun 30.

14.

Competition and compensation: dissecting the biophysical and functional differences between the class 3 myosin paralogs, myosins 3a and 3b.

Manor U, Grati M, Yengo CM, Kachar B, Gov NS.

Bioarchitecture. 2012 Sep-Oct;2(5):171-4. doi: 10.4161/bioa.21733. Epub 2012 Sep 1.

15.

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D, Tekin M.

Front Biosci (Landmark Ed). 2012 Jun 1;17:2213-36. Review.

16.

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.

Bashir R, Fatima A, Naz S.

Eur J Med Genet. 2012 Feb;55(2):99-102. doi: 10.1016/j.ejmg.2011.12.003. Epub 2011 Dec 30.

17.

Actin in hair cells and hearing loss.

Drummond MC, Belyantseva IA, Friderici KH, Friedman TB.

Hear Res. 2012 Jun;288(1-2):89-99. doi: 10.1016/j.heares.2011.12.003. Epub 2011 Dec 13. Review.

18.

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ.

J Clin Invest. 2011 Dec;121(12):4796-809. doi: 10.1172/JCI60405. Epub 2011 Nov 21.

19.

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.

Grati M, Kachar B.

Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11476-81. doi: 10.1073/pnas.1104161108. Epub 2011 Jun 27.

20.

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM.

Hum Mol Genet. 2009 Jun 1;18(11):1909-23. doi: 10.1093/hmg/ddp112. Epub 2009 Mar 11.

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