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Items: 1 to 20 of 49

1.

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM.

J Hum Genet. 2011 Dec;56(12):866-8. doi: 10.1038/jhg.2011.110. Epub 2011 Sep 22.

2.

Key functions for gap junctions in skin and hearing.

Scott CA, Kelsell DP.

Biochem J. 2011 Sep 1;438(2):245-54. doi: 10.1042/BJ20110278. Review.

PMID:
21834795
3.

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G.

Am J Med Genet A. 2011 Aug;155A(8):2021-3. doi: 10.1002/ajmg.a.34096. Epub 2011 Jul 7. No abstract available.

PMID:
21739586
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.

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.

Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear RJ, Pepermans E, Michalski N, Perfettini I, Alegria-Prévot O, Chardenoux S, Do Cruzeiro M, Hardelin JP, Richardson GP, Avan P, Weil D, Petit C.

Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5825-30. doi: 10.1073/pnas.1017114108. Epub 2011 Mar 21.

6.

Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells.

Goodyear RJ, Forge A, Legan PK, Richardson GP.

J Comp Neurol. 2010 Nov 1;518(21):4288-97. doi: 10.1002/cne.22456.

7.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

8.

The RET Protooncogene.

Traugott AL, Moley JF.

Cancer Treat Res. 2010;153:303-19. doi: 10.1007/978-1-4419-0857-5_17. Review. No abstract available.

PMID:
19957232
9.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4.

10.

Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D.

Lagziel A, Overlack N, Bernstein SL, Morell RJ, Wolfrum U, Friedman TB.

Mol Vis. 2009 Sep 12;15:1843-57.

11.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H.

Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26.

12.

A catechol-O-methyltransferase that is essential for auditory function in mice and humans.

Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B.

Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14609-14. doi: 10.1073/pnas.0807219105. Epub 2008 Sep 15.

13.

Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.

Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Mégarbané A.

Eur J Hum Genet. 2009 Jan;17(1):122-4. doi: 10.1038/ejhg.2008.155. Epub 2008 Sep 10.

14.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB.

Hum Genet. 2008 Oct;124(3):215-23. doi: 10.1007/s00439-008-0543-3. Epub 2008 Aug 22.

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.

SANS (USH1G) expression in developing and mature mammalian retina.

Overlack N, Maerker T, Latz M, Nagel-Wolfrum K, Wolfrum U.

Vision Res. 2008 Feb;48(3):400-12. Epub 2007 Oct 17.

17.

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U.

Hum Mol Genet. 2008 Jan 1;17(1):71-86. Epub 2007 Sep 28.

PMID:
17906286
18.

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
19.

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
20.

Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.

Peters LM, Belyantseva IA, Lagziel A, Battey JF, Friedman TB, Morell RJ.

Genomics. 2007 Feb;89(2):197-206. Epub 2006 Oct 17.

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