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Results: 1 to 20 of 117

1.

Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.

Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ.

J Clin Invest. 2011 Nov;121(11):4516-25. doi: 10.1172/JCI59353. Epub 2011 Oct 3.

PMID:
21965328
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.

Li X, Sanneman JD, Harbidge DG, Zhou F, Ito T, Nelson R, Picard N, Chambrey R, Eladari D, Miesner T, Griffith AJ, Marcus DC, Wangemann P.

PLoS Genet. 2013;9(7):e1003641. doi: 10.1371/journal.pgen.1003641. Epub 2013 Jul 11.

PMID:
23874234
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.

Griffith AJ, Wangemann P.

Hear Res. 2011 Nov;281(1-2):11-7. doi: 10.1016/j.heares.2011.05.009. Epub 2011 Jun 6. Review.

PMID:
21669267
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P.

J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.

PMID:
21961810
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.

Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.

PMID:
19426954
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, Sanneman JD, Harbidge DG, Billings S, Marcus DC.

Am J Physiol Renal Physiol. 2007 May;292(5):F1345-53. Epub 2007 Feb 13.

PMID:
17299139
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Hereditary hearing loss with thyroid abnormalities.

Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ.

Adv Otorhinolaryngol. 2011;70:43-9. doi: 10.1159/000322469. Epub 2011 Feb 24. Review.

PMID:
21358184
[PubMed - indexed for MEDLINE]
8.

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PMID:
23185506
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.

Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J.

Arch Otolaryngol Head Neck Surg. 2007 Feb;133(2):162-8. Erratum in: Arch Otolaryngol Head Neck Surg. 2007 Jun;133(6):607.

PMID:
17309986
[PubMed - indexed for MEDLINE]
10.

Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.

Ito T, Li X, Kurima K, Choi BY, Wangemann P, Griffith AJ.

Neurobiol Dis. 2014 Jun;66:53-65. doi: 10.1016/j.nbd.2014.02.002. Epub 2014 Feb 19.

PMID:
24561068
[PubMed - indexed for MEDLINE]
11.

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Pourová R, Janousek P, Jurovcík M, Dvoráková M, Malíková M, Rasková D, Bendová O, Leonardi E, Murgia A, Kabelka Z, Astl J, Seeman P.

Ann Hum Genet. 2010 Jul;74(4):299-307. doi: 10.1111/j.1469-1809.2010.00581.x.

PMID:
20597900
[PubMed - indexed for MEDLINE]
12.

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S, Nofziger C, Tamma G, Bernardinelli E, Vanoni S, Nowak C, Grabmayer E, Kössler S, Stephan S, Patsch W, Paulmichl M.

Cell Physiol Biochem. 2011;28(3):451-66. doi: 10.1159/000335107. Epub 2011 Nov 18. Review.

PMID:
22116358
[PubMed - indexed for MEDLINE]
13.

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.

Laryngoscope. 2014 Apr;124(4):E134-40. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PMID:
24105851
[PubMed - indexed for MEDLINE]
14.

Mouse models for pendrin-associated loss of cochlear and vestibular function.

Wangemann P.

Cell Physiol Biochem. 2013;32(7):157-65. doi: 10.1159/000356635. Epub 2013 Dec 18. Review.

PMID:
24429822
[PubMed - indexed for MEDLINE]
15.

The role of pendrin in the development of the murine inner ear.

Wangemann P.

Cell Physiol Biochem. 2011;28(3):527-34. doi: 10.1159/000335113. Epub 2011 Nov 18. Review.

PMID:
22116367
[PubMed - indexed for MEDLINE]
16.

Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.

Li X, Zhou F, Marcus DC, Wangemann P.

PLoS One. 2013 May 31;8(5):e65977. doi: 10.1371/journal.pone.0065977. Print 2013.

PMID:
23741519
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

Pera A, Dossena S, Rodighiero S, Gandía M, Bottà G, Meyer G, Moreno F, Nofziger C, Hernández-Chico C, Paulmichl M.

Proc Natl Acad Sci U S A. 2008 Nov 25;105(47):18608-13. doi: 10.1073/pnas.0805831105. Epub 2008 Nov 18.

PMID:
19017801
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Sgk1 sensitive pendrin expression in murine platelets.

Pelzl L, Fakhri H, Umbach AT, Gawaz M, Paulmichl M, Lang F.

Cell Physiol Biochem. 2013;32(7):210-20. doi: 10.1159/000356640. Epub 2013 Dec 18.

PMID:
24429827
[PubMed - indexed for MEDLINE]
19.

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Reyes S, Wang G, Ouyang X, Han B, Du LL, Yuan HJ, Yan D, Dai P, Liu XZ.

Otolaryngol Head Neck Surg. 2009 Oct;141(4):502-8. doi: 10.1016/j.otohns.2009.07.004.

PMID:
19786220
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Chen DY, Chen XW, Jin X, Zuo J, Wei CG, Cao KL, Fang FD.

Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4. Chinese.

PMID:
18167283
[PubMed - indexed for MEDLINE]

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