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Items: 1 to 20 of 76

1.

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D.

Eur J Hum Genet. 2002 Jun;10(6):339-50.

2.

Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea.

Aarnisalo AA, Pietola L, Joensuu J, Isosomppi J, Aarnisalo P, Dinculescu A, Lewin AS, Flannery J, Hauswirth WW, Sankila EM, Jero J.

Hear Res. 2007 Aug;230(1-2):9-16.

PMID:
17493778
3.

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM.

Clin Genet. 2004 Dec;66(6):525-9.

PMID:
15521980
4.

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.

PMID:
17171570
5.

Characterisation of DRASIC in the mouse inner ear.

Hildebrand MS, de Silva MG, Klockars T, Rose E, Price M, Smith RJ, McGuirt WT, Christopoulos H, Petit C, Dahl HH.

Hear Res. 2004 Apr;190(1-2):149-60.

PMID:
15051137
6.

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ.

Mol Vis. 2007 Aug 30;13:1539-47.

PMID:
17893653
7.

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.

PMID:
16301217
8.

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
9.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505.

PMID:
18281613
10.

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.

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13.

Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.

Gopal SR, Chen DH, Chou SW, Zang J, Neuhauss SC, Stepanyan R, McDermott BM Jr, Alagramam KN.

J Neurosci. 2015 Jul 15;35(28):10188-201. doi: 10.1523/JNEUROSCI.1096-15.2015.

14.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524.

PMID:
18273898
15.

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H.

Am J Hum Genet. 2004 Apr;74(4):738-44.

16.

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ.

Nat Genet. 2002 Mar;30(3):277-84.

PMID:
11850618
18.

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

Phillips JB, Västinsalo H, Wegner J, Clément A, Sankila EM, Westerfield M.

Gene Expr Patterns. 2013 Dec;13(8):473-81. doi: 10.1016/j.gep.2013.09.001.

19.

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM.

Eur J Hum Genet. 2002 Aug;10(8):449-56.

20.

The molecular genetics of Usher syndrome.

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER.

Clin Genet. 2003 Jun;63(6):431-44. Review.

PMID:
12786748

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