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Items: 1 to 20 of 124

1.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC.

Am J Hum Genet. 2010 Feb 12;86(2):148-60. doi: 10.1016/j.ajhg.2010.01.016. Epub 2010 Feb 4.

2.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H.

Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4.

3.

Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus.

Odeh H, Hagiwara N, Skynner M, Mitchem KL, Beyer LA, Allen ND, Brilliant MH, Lebart MC, Dolan DF, Raphael Y, Kohrman DC.

Audiol Neurootol. 2004 Sep-Oct;9(5):303-14. Epub 2004 Sep 3.

PMID:
15347914
4.

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.

Mitchem KL, Hibbard E, Beyer LA, Bosom K, Dootz GA, Dolan DF, Johnson KR, Raphael Y, Kohrman DC.

Hum Mol Genet. 2002 Aug 1;11(16):1887-98.

PMID:
12140191
5.

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S.

Hum Mutat. 2007 May;28(5):417-23.

PMID:
17226784
6.

Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

Johnson KR, Longo-Guess CM, Gagnon LH.

PLoS One. 2012;7(4):e36074. doi: 10.1371/journal.pone.0036074. Epub 2012 Apr 27.

7.

Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.

Mori K, Miyanohara I, Moteki H, Nishio SY, Kurono Y, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:129S-34S. doi: 10.1177/0003489415575061. Epub 2015 Mar 23.

PMID:
25802247
8.

The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function.

Gagnon LH, Longo-Guess CM, Berryman M, Shin JB, Saylor KW, Yu H, Gillespie PG, Johnson KR.

J Neurosci. 2006 Oct 4;26(40):10188-98.

9.

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice.

Beyer LA, Odeh H, Probst FJ, Lambert EH, Dolan DF, Camper SA, Kohrman DC, Raphael Y.

J Neurocytol. 2000 Apr;29(4):227-40.

10.

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.

Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA.

Genomics. 2001 Jun 1;74(2):228-33.

PMID:
11386759
11.

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 Jan;78(1):144-52. Epub 2005 Nov 21.

12.

A short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing function.

Francis SP, Krey JF, Krystofiak ES, Cui R, Nanda S, Xu W, Kachar B, Barr-Gillespie PG, Shin JB.

J Neurosci. 2015 Feb 4;35(5):1999-2014. doi: 10.1523/JNEUROSCI.3449-14.2015.

13.

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U.

Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017.

14.

The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development.

Mogensen MM, Rzadzinska A, Steel KP.

Cell Motil Cytoskeleton. 2007 Jul;64(7):496-508.

15.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.

Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677.

PMID:
18181211
16.

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C.

Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7.

PMID:
22678063
17.

A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.

Watson CJ, Tempel BL.

Hear Res. 2013 Oct;304:41-8. doi: 10.1016/j.heares.2013.06.003. Epub 2013 Jun 18.

18.

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S.

J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3.

19.

The circling mutant Pcdh15roda is a new mouse model for hearing loss.

Torres AA, Rzadzinska AK, Ribeiro AF, Silva DA, Guénet JL, Massironi SM, Godard AL.

Mutat Res. 2013 Nov-Dec;751-752:29-35. doi: 10.1016/j.mrfmmm.2013.09.002. Epub 2013 Sep 14.

PMID:
24044941
20.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PMID:
10973247

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