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Items: 1 to 20 of 22

1.

Structures of usher syndrome 1 proteins and their complexes.

Pan L, Zhang M.

Physiology (Bethesda). 2012 Feb;27(1):25-42. doi: 10.1152/physiol.00037.2011. Review.

2.

Distinct energy metabolism of auditory and vestibular sensory epithelia revealed by quantitative mass spectrometry using MS2 intensity.

Spinelli KJ, Klimek JE, Wilmarth PA, Shin JB, Choi D, David LL, Gillespie PG.

Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):E268-77. doi: 10.1073/pnas.1115866109. Epub 2012 Jan 17.

3.

Current understanding of usher syndrome type II.

Yang J, Wang L, Song H, Sokolov M.

Front Biosci (Landmark Ed). 2012 Jan 1;17:1165-83.

4.

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.

5.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

6.

Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8.

Manor U, Disanza A, Grati M, Andrade L, Lin H, Di Fiore PP, Scita G, Kachar B.

Curr Biol. 2011 Jan 25;21(2):167-72. doi: 10.1016/j.cub.2010.12.046. Epub 2011 Jan 13.

7.

The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice.

Shin JB, Longo-Guess CM, Gagnon LH, Saylor KW, Dumont RA, Spinelli KJ, Pagana JM, Wilmarth PA, David LL, Gillespie PG, Johnson KR.

J Neurosci. 2010 Jul 21;30(29):9683-94. doi: 10.1523/JNEUROSCI.1541-10.2010.

8.

Review series: The cell biology of hearing.

Schwander M, Kachar B, Müller U.

J Cell Biol. 2010 Jul 12;190(1):9-20. doi: 10.1083/jcb.201001138. Review.

9.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ.

J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.

10.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB.

Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.

11.

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T.

Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20.

PMID:
19028668
12.

Quantitative colocalization analysis of confocal fluorescence microscopy images.

Zinchuk V, Zinchuk O.

Curr Protoc Cell Biol. 2008 Jun;Chapter 4:Unit 4.19. doi: 10.1002/0471143030.cb0419s39.

PMID:
18551422
13.

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.

Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B.

Nature. 2007 Sep 6;449(7158):87-91.

PMID:
17805295
14.

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.

Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C.

J Neurosci. 2007 Jun 13;27(24):6478-88.

15.

A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression.

Schneider ME, Dosé AC, Salles FT, Chang W, Erickson FL, Burnside B, Kachar B.

J Neurosci. 2006 Oct 4;26(40):10243-52.

16.

Molecular determinants for differential membrane trafficking of PMCA1 and PMCA2 in mammalian hair cells.

Grati M, Aggarwal N, Strehler EE, Wenthold RJ.

J Cell Sci. 2006 Jul 15;119(Pt 14):2995-3007. Epub 2006 Jun 27.

17.

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ, Richardson GP.

J Neurosci. 2006 Jun 14;26(24):6543-53.

18.

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H.

Hum Mol Genet. 2006 Mar 1;15(5):751-65. Epub 2006 Jan 24.

PMID:
16434480
19.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C.

Hum Mol Genet. 2005 Dec 15;14(24):3921-32. Epub 2005 Nov 21.

PMID:
16301217
20.

An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal.

Rzadzinska AK, Schneider ME, Davies C, Riordan GP, Kachar B.

J Cell Biol. 2004 Mar 15;164(6):887-97.

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