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Results: 1 to 20 of 98

Similar articles for PubMed (Select 23023331)

1.

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM.

Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.

2.

Usher proteins in inner ear structure and function.

Ahmed ZM, Frolenkov GI, Riazuddin S.

Physiol Genomics. 2013 Nov 1;45(21):987-9. doi: 10.1152/physiolgenomics.00135.2013. Epub 2013 Sep 10.

3.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570
4.
5.

Usher protein functions in hair cells and photoreceptors.

Cosgrove D, Zallocchi M.

Int J Biochem Cell Biol. 2014 Jan;46:80-9. doi: 10.1016/j.biocel.2013.11.001. Epub 2013 Nov 12. Review.

6.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
7.

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
8.

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Müller U.

Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5252-7. doi: 10.1073/pnas.0900691106. Epub 2009 Mar 6.

9.

Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.

Ciuman RR.

J Laryngol Otol. 2011 Oct;125(10):991-1003. doi: 10.1017/S0022215111001459. Epub 2011 Jul 21. Review.

PMID:
21774850
10.

Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.

Wang L, Zou J, Shen Z, Song E, Yang J.

Hum Mol Genet. 2012 Feb 1;21(3):692-710. doi: 10.1093/hmg/ddr503. Epub 2011 Nov 2.

11.

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
12.

[Molecular mechanisms underlying function of hair bundle: study on genetic deafness in mouse models].

Liang LZ, Zheng BJ, Zheng J, Fang F, Wu Y, Guan MX.

Sheng Li Xue Bao. 2012 Aug 25;64(4):481-8. Review. Chinese.

13.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H.

J Mol Med (Berl). 2005 Dec;83(12):1025-32. Epub 2005 Nov 8.

PMID:
16283141
14.

Usher syndrome: hearing loss with vision loss.

Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC.

Adv Otorhinolaryngol. 2011;70:56-65. doi: 10.1159/000322473. Epub 2011 Feb 24. Review.

PMID:
21358186
15.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.

J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.

PMID:
21940737
16.

Searching for evidence of DFNB2.

Astuto LM, Kelley PM, Askew JW, Weston MD, Smith RJ, Alswaid AF, Al-Rakaf M, Kimberling WJ.

Am J Med Genet. 2002 May 15;109(4):291-7.

PMID:
11992483
17.

The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.

Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN.

J Neurosci. 2012 Jul 11;32(28):9485-98. doi: 10.1523/JNEUROSCI.0311-12.2012.

18.

Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.

Häger M, Bigotti MG, Meszaros R, Carmignac V, Holmberg J, Allamand V, Akerlund M, Kalamajski S, Brancaccio A, Mayer U, Durbeej M.

J Biol Chem. 2008 Sep 5;283(36):24760-9. doi: 10.1074/jbc.M801166200. Epub 2008 Jul 7.

19.

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.

Nat Genet. 2001 Jan;27(1):108-12.

PMID:
11138009
20.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.

Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

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